Variant report

Variant	rs740601
Chromosome Location	chr22:19950763-19950764
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYBL2	chr22:19949699-19951016	HepG2	liver:	n/a	n/a
2	POLR2A	chr22:19950734-19950883	ProgFib	skin:	n/a	n/a
3	TCF7L2	chr22:19950490-19950838	MCF-7	breast:	n/a	n/a
4	CHD2	chr22:19950513-19950853	HepG2	liver:	n/a	n/a
5	MAFF	chr22:19950539-19950856	HepG2	liver:	n/a	n/a
6	POLR2A	chr22:19950650-19950895	U87	brain:	n/a	n/a
7	SP1	chr22:19949783-19951136	HCT-116	colon:	n/a	chr22:19950028-19950037 chr22:19950026-19950038 chr22:19950026-19950038 chr22:19950027-19950036 chr22:19950027-19950041 chr22:19949984-19949991 chr22:19950653-19950664
8	FOSL2	chr22:19949763-19951268	HepG2	liver:	n/a	chr22:19950712-19950722 chr22:19950656-19950665 chr22:19950713-19950721 chr22:19950710-19950721 chr22:19949992-19950003
9	POLR2A	chr22:19946340-19952882	K562	blood:	n/a	n/a
10	POLR2A	chr22:19949688-19950860	SK-N-MC	brain:	n/a	n/a
11	POLR2A	chr22:19947800-19952931	K562	blood:	n/a	n/a
12	POLR2A	chr22:19949674-19951197	SK-N-SH	brain:	n/a	n/a
13	MAX	chr22:19949666-19951511	MCF-7	breast:	n/a	n/a
14	EGR1	chr22:19950330-19951125	HCT-116	colon:	n/a	chr22:19950751-19950758
15	USF1	chr22:19949850-19950952	ECC-1	luminal epithelium:	n/a	n/a
16	POLR2A	chr22:19949301-19951239	K562	blood:	n/a	n/a
17	SIN3AK20	chr22:19949595-19951222	MCF-7	breast:	n/a	n/a
18	JUND	chr22:19950320-19951074	MCF-7	breast:	n/a	chr22:19950712-19950722 chr22:19950711-19950722 chr22:19950656-19950665 chr22:19950713-19950721
19	MAX	chr22:19949860-19951022	MCF-7	breast:	n/a	n/a
20	TEAD4	chr22:19949743-19951315	ECC-1	luminal epithelium:	n/a	n/a
21	MAX	chr22:19950527-19950889	HepG2	liver:	n/a	n/a
22	STAT3	chr22:19950594-19950786	MCF10A-Er-Src	breast:	n/a	n/a
23	POLR2A	chr22:19948316-19952792	HL-60	blood:	n/a	n/a
24	POLR2A	chr22:19950517-19951950	HUVEC	blood vessel:	n/a	n/a
25	POLR2A	chr22:19950443-19951399	HL-60	blood:	n/a	n/a
26	FOSL2	chr22:19950416-19951063	MCF-7	breast:	n/a	chr22:19950712-19950722 chr22:19950656-19950665 chr22:19950713-19950721 chr22:19950710-19950721
27	FOS	chr22:19950562-19950850	MCF10A-Er-Src	breast:	n/a	chr22:19950712-19950722 chr22:19950656-19950665 chr22:19950713-19950721
28	MAX	chr22:19949781-19950946	ECC-1	luminal epithelium:	n/a	n/a
29	POLR2A	chr22:19949824-19951910	MCF-7	breast:	n/a	n/a
30	POLR2A	chr22:19949507-19950994	K562	blood:	n/a	n/a
31	MAZ	chr22:19950550-19950902	HepG2	liver:	n/a	n/a
32	POLR2A	chr22:19950697-19952060	GM12878	blood:	n/a	n/a
33	POLR2A	chr22:19949819-19951274	HepG2	liver:	n/a	n/a
34	MAFK	chr22:19950555-19950868	HepG2	liver:	n/a	n/a
35	NFIC	chr22:19950525-19950858	HepG2	liver:	n/a	n/a
36	MYC	chr22:19950610-19950815	MCF10A-Er-Src	breast:	n/a	n/a
37	SP1	chr22:19950419-19951006	HepG2	liver:	n/a	chr22:19950653-19950664
38	RAD21	chr22:19949616-19950976	ECC-1	luminal epithelium:	n/a	chr22:19950432-19950442 chr22:19949863-19949873 chr22:19949858-19949877 chr22:19949952-19949971 chr22:19949862-19949871 chr22:19949861-19949874
39	HNF4G	chr22:19950425-19950928	HepG2	liver:	n/a	chr22:19950508-19950520 chr22:19950595-19950607
40	MYBL2	chr22:19950390-19951033	HepG2	liver:	n/a	n/a
41	ZBTB7A	chr22:19950645-19950839	HepG2	liver:	n/a	n/a
42	POLR2A	chr22:19950426-19950781	H1-neurons	neurons:	n/a	n/a
43	CEBPB	chr22:19950469-19950991	MCF-7	breast:	n/a	n/a
44	FOSL2	chr22:19950395-19951024	HepG2	liver:	n/a	chr22:19950712-19950722 chr22:19950656-19950665 chr22:19950713-19950721 chr22:19950710-19950721
45	GABPA	chr22:19950459-19951000	MCF-7	breast:	n/a	n/a
46	POLR2A	chr22:19950490-19950895	U87	brain:	n/a	n/a
47	JUND	chr22:19950560-19950893	HepG2	liver:	n/a	chr22:19950712-19950722 chr22:19950711-19950722 chr22:19950656-19950665 chr22:19950713-19950721
48	TAF1	chr22:19950438-19950950	HepG2	liver:	n/a	n/a
49	POLR2A	chr22:19950387-19950973	HUVEC	blood vessel:	n/a	n/a
50	SP1	chr22:19949614-19951198	HCT-116	colon:	n/a	chr22:19950028-19950037 chr22:19950026-19950038 chr22:19950026-19950038 chr22:19950027-19950036 chr22:19950027-19950041 chr22:19949984-19949991 chr22:19950653-19950664

No.	Distal block	Cell Line	Cell type
1	chr22:19949124..19952670-chr22:20007168..20012246,7	MCF-7	breast:
2	chr22:19949253..19952166-chr22:20002856..20005634,4	MCF-7	breast:
3	chr22:19949168..19953639-chr22:20103294..20106027,5	MCF-7	breast:
4	chr22:19949111..19952325-chr22:20065927..20070108,7	MCF-7	breast:
5	chr22:19949698..19952305-chr22:20066573..20069050,2	MCF-7	breast:
6	chr22:19949091..19952379-chr22:20006726..20010380,7	MCF-7	breast:
7	chr22:19948794..19952521-chr22:20017014..20020703,6	MCF-7	breast:
8	chr22:19950336..19950868-chr22:20116504..20117409,2	K562	blood:
9	chr22:19949905..19952952-chr22:20101075..20104073,4	MCF-7	breast:
10	chr22:19949033..19951647-chr22:20098299..20100530,2	MCF-7	breast:
11	chr22:19949957..19952527-chr22:20104300..20107708,4	MCF-7	breast:
12	chr22:19925525..19930852-chr22:19949824..19952379,6	MCF-7	breast:
13	chr22:19950626..19952131-chr22:20093018..20094756,2	MCF-7	breast:

Variant related genes	Relation type
MIR4761	TF binding region
COMT	TF binding region
ENSG00000128191	Chromatin interaction
ENSG00000099899	Chromatin interaction
ENSG00000099904	Chromatin interaction
ENSG00000243762	Chromatin interaction
ENSG00000093010	Chromatin interaction
ENSG00000099901	Chromatin interaction
ENSG00000184470	Chromatin interaction
ENSG00000183597	Chromatin interaction
ENSG00000208023	Chromatin interaction
ENSG00000099889	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs2239393	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.91[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3810595	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4633	0.83[TSI][hapmap]
rs4646312	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.86[GIH][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4646316	0.91[CHD][hapmap];0.91[JPT][hapmap];0.87[ASN][1000 genomes]
rs4646317	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4680	0.81[TSI][hapmap]
rs4818	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6269	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs740603	0.82[CHB][hapmap]
rs9306234	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:36 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1792516	chr22:19578312-20314496	Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	195 gene(s)	inside rSNPs	diseases
2	nsv914279	chr22:19638044-19954458	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	56 gene(s)	inside rSNPs	diseases
3	esv1818018	chr22:19674772-20313261	Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	193 gene(s)	inside rSNPs	diseases
4	nsv828938	chr22:19678592-20311988	Strong transcription Genic enhancers Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	192 gene(s)	inside rSNPs	diseases
5	nsv828939	chr22:19683555-20311988	Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	192 gene(s)	inside rSNPs	diseases
6	nsv1064992	chr22:19691720-20246906	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	184 gene(s)	inside rSNPs	diseases
7	esv1826873	chr22:19726464-20313261	Transcr. at gene 5' and 3' Weak transcription Genic enhancers Active TSS ZNF genes & repeats Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	179 gene(s)	inside rSNPs	diseases
8	nsv588237	chr22:19749525-20306993	Weak transcription Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
9	nsv1065963	chr22:19779317-20027562	Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	137 gene(s)	inside rSNPs	diseases
10	nsv544580	chr22:19779317-20027562	Genic enhancers Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	137 gene(s)	inside rSNPs	diseases
11	nsv949462	chr22:19840196-20214783	Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	163 gene(s)	inside rSNPs	diseases
12	nsv1065367	chr22:19856610-20127323	Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	137 gene(s)	inside rSNPs	diseases
13	nsv469641	chr22:19879185-20055258	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
14	nsv482484	chr22:19879185-20055258	Weak transcription Active TSS Genic enhancers Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
15	nsv834131	chr22:19879186-20055258	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
16	nsv834132	chr22:19887966-20069970	Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	127 gene(s)	inside rSNPs	diseases
17	nsv914306	chr22:19900075-19983014	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
18	nsv588239	chr22:19907099-20309393	Strong transcription Active TSS Genic enhancers Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
19	nsv914307	chr22:19924021-19952132	Weak transcription Genic enhancers Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
20	nsv914308	chr22:19924021-19977647	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
21	nsv914309	chr22:19934051-19970502	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
22	nsv914310	chr22:19934051-20021938	Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
23	nsv914311	chr22:19934051-20029878	Bivalent Enhancer Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
24	nsv914312	chr22:19937638-19970502	Weak transcription Strong transcription Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
25	nsv914313	chr22:19937638-19983014	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
26	nsv914314	chr22:19937638-19987202	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
27	nsv914315	chr22:19937638-19989642	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
28	nsv914316	chr22:19937638-19990789	Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
29	nsv914317	chr22:19937638-20032327	Strong transcription Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
30	esv3584493	chr22:19941927-19978558	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
31	nsv1064496	chr22:19948337-19978558	Enhancers Flanking Active TSS Active TSS Genic enhancers Weak transcription Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
32	nsv1055752	chr22:19948337-20001022	Strong transcription Genic enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
33	nsv1063584	chr22:19948881-20232189	Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
34	nsv914318	chr22:19949013-19983014	Genic enhancers Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
35	nsv588240	chr22:19950263-19952561	Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Strong transcription Weak transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases
36	nsv517165	chr22:19950428-19987202	Flanking Active TSS Genic enhancers Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs740601	TUBA8	cis	cerebellum	SCAN
rs740601	COMT	cis	parietal	SCAN

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:19931400-19954200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr22:19931400-19955200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr22:19931800-19956800	Weak transcription	Small Intestine	intestine
4	chr22:19945000-19958400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
5	chr22:19946400-19951800	Enhancers	Placenta Amnion	Placenta Amnion
6	chr22:19946400-19952400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr22:19946800-19951600	Weak transcription	Aorta	Aorta
8	chr22:19947000-19951200	Weak transcription	HSMMtube	muscle
9	chr22:19947000-19951400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
10	chr22:19947400-19950800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr22:19947400-19951000	Enhancers	Pancreas	Pancrea
12	chr22:19947600-19951600	Weak transcription	Fetal Brain Male	brain
13	chr22:19947800-19951400	Weak transcription	A549	lung
14	chr22:19947800-19956000	Weak transcription	Primary B cells from cord blood	blood
15	chr22:19948000-19950800	Genic enhancers	Fetal Muscle Trunk	muscle
16	chr22:19948000-19951400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr22:19948000-19954400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr22:19948200-19951200	Weak transcription	Primary hematopoietic stem cells	blood
19	chr22:19948200-19951600	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr22:19948200-19954200	Strong transcription	Spleen	Spleen
21	chr22:19948200-19957800	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr22:19948200-19958200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr22:19948200-19959000	Strong transcription	Dnd41	blood
24	chr22:19948400-19951600	Weak transcription	Fetal Kidney	kidney
25	chr22:19948400-19951600	Genic enhancers	Fetal Muscle Leg	muscle
26	chr22:19948400-19953400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr22:19948400-19957200	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr22:19948400-19967800	Weak transcription	Pancreatic Islets	Pancreatic Islet
29	chr22:19948600-19950800	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr22:19948800-19951200	Genic enhancers	Lung	lung
31	chr22:19948800-19957600	Weak transcription	Right Atrium	heart
32	chr22:19949000-19952800	Strong transcription	Fetal Brain Female	brain
33	chr22:19949200-19951400	Weak transcription	Primary T cells from cord blood	blood
34	chr22:19949400-19957800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr22:19949600-19950800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr22:19949600-19951000	Enhancers	Gastric	stomach
37	chr22:19949600-19951200	Weak transcription	Primary B cells from peripheral blood	blood
38	chr22:19949600-19951400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr22:19949600-19952000	Enhancers	H1 Cell Line	embryonic stem cell
40	chr22:19949600-19952200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr22:19949600-19954400	Genic enhancers	Brain Germinal Matrix	brain
42	chr22:19949600-19962000	Weak transcription	GM12878-XiMat	blood
43	chr22:19949800-19950800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr22:19949800-19950800	Enhancers	Primary T helper cells PMA-I stimulated	--
45	chr22:19949800-19950800	Enhancers	Brain Inferior Temporal Lobe	brain
46	chr22:19949800-19950800	Genic enhancers	Fetal Thymus	thymus
47	chr22:19949800-19951000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr22:19949800-19951000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr22:19949800-19951000	Enhancers	HUVEC	blood vessel
50	chr22:19949800-19951000	Enhancers	NHDF-Ad	bronchial

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links