Variant report

Variant	rs4646312
Chromosome Location	chr22:19948337-19948338
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:13 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NR2F2	chr22:19946165-19948527	K562	blood:	n/a	n/a
2	POLR2A	chr22:19946340-19952882	K562	blood:	n/a	n/a
3	POLR2A	chr22:19947743-19948606	SK-N-MC	brain:	n/a	n/a
4	POLR2A	chr22:19947800-19952931	K562	blood:	n/a	n/a
5	POLR2A	chr22:19948316-19952792	HL-60	blood:	n/a	n/a
6	POLR2A	chr22:19946544-19948469	HepG2	liver:	n/a	n/a
7	POLR2A	chr22:19948094-19948339	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr22:19948303-19949016	MCF10A-Er-Src	breast:	n/a	n/a
9	POLR2A	chr22:19946265-19966895	K562	blood:	n/a	n/a
10	TEAD4	chr22:19946331-19948404	K562	blood:	n/a	n/a
11	POLR2A	chr22:19946155-19948470	HepG2	liver:	n/a	n/a
12	NR2F2	chr22:19947773-19948455	K562	blood:	n/a	n/a
13	POLR2A	chr22:19947924-19948683	HepG2	liver:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:19927931..19931941-chr22:19946773..19949738,4	MCF-7	breast:
2	chr22:19729981..19733006-chr22:19945267..19948458,3	MCF-7	breast:
3	chr22:19945421..19949076-chr22:20007140..20011295,5	MCF-7	breast:

No data

Variant related genes	Relation type
MIR4761	TF binding region
COMT	TF binding region
ENSG00000183597	Chromatin interaction
ENSG00000184470	Chromatin interaction
ENSG00000093010	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs165656	0.83[TSI][hapmap]
rs2239393	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.86[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3810595	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4646316	0.91[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs4646317	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4818	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6269	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs740601	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]
rs740603	0.82[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:32 , 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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4646312	TUBA8	cis	cerebellum	SCAN
rs4646312	COMT	cis	parietal	SCAN

Chromatin state (count:120 , 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	chr22:19935600-19950000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr22:19936000-19948400	Weak transcription	Primary B cells from peripheral blood	blood
6	chr22:19939400-19950600	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr22:19939600-19948400	Weak transcription	Monocytes-CD14+_RO01746	blood
8	chr22:19941400-19950200	Weak transcription	Brain Angular Gyrus	brain
9	chr22:19941400-19950200	Weak transcription	Brain Substantia Nigra	brain
10	chr22:19941600-19948400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr22:19941600-19949800	Weak transcription	Brain Cingulate Gyrus	brain
12	chr22:19943400-19949600	Weak transcription	Psoas Muscle	Psoas
13	chr22:19943400-19949800	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr22:19943400-19950200	Weak transcription	Brain Hippocampus Middle	brain
15	chr22:19943600-19950200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr22:19944800-19950200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr22:19945000-19958400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
18	chr22:19945400-19950000	Weak transcription	Primary T cells fromperipheralblood	blood
19	chr22:19945600-19949600	Weak transcription	HSMM	muscle
20	chr22:19946200-19950000	Enhancers	HMEC	breast
21	chr22:19946400-19948600	Enhancers	Gastric	stomach
22	chr22:19946400-19950200	Enhancers	Stomach Mucosa	stomach
23	chr22:19946400-19951800	Enhancers	Placenta Amnion	Placenta Amnion
24	chr22:19946400-19952400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr22:19946800-19950000	Enhancers	Liver	Liver
26	chr22:19946800-19951600	Weak transcription	Aorta	Aorta
27	chr22:19947000-19948400	Enhancers	Adipose Nuclei	Adipose
28	chr22:19947000-19948400	Weak transcription	NHLF	lung
29	chr22:19947000-19949600	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr22:19947000-19949600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr22:19947000-19949800	Weak transcription	Osteobl	bone
32	chr22:19947000-19950200	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr22:19947000-19950600	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr22:19947000-19951200	Weak transcription	HSMMtube	muscle
35	chr22:19947000-19951400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
36	chr22:19947200-19949800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr22:19947400-19948400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr22:19947400-19948400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr22:19947400-19948400	Enhancers	Colon Smooth Muscle	Colon
40	chr22:19947400-19948400	Enhancers	Fetal Heart	heart
41	chr22:19947400-19948400	Enhancers	Fetal Kidney	kidney
42	chr22:19947400-19948400	Enhancers	Fetal Muscle Leg	muscle
43	chr22:19947400-19948600	Enhancers	GM12878-XiMat	blood
44	chr22:19947400-19948600	Flanking Active TSS	HepG2	liver
45	chr22:19947400-19948800	Enhancers	Placenta	Placenta
46	chr22:19947400-19949200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr22:19947400-19949800	Weak transcription	Cortex derived primary cultured neurospheres	brain
48	chr22:19947400-19949800	Weak transcription	Brain Anterior Caudate	brain
49	chr22:19947400-19949800	Weak transcription	HUVEC	blood vessel
50	chr22:19947400-19949800	Weak transcription	NH-A	brain

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