Variant report

Variant	rs73399394
Chromosome Location	chr6:26322624-26322625
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:172)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:172 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SP1	chr6:26322133-26322688	A549	lung:	n/a	n/a
2	MAZ	chr6:26322225-26323447	Hela-S3	cervix:	n/a	n/a
3	CHD2	chr6:26322390-26322633	Hela-S3	cervix:	n/a	n/a
4	TBL1XR1	chr6:26322261-26323598	K562	blood:	n/a	n/a
5	TEAD4	chr6:26322193-26323759	HepG2	liver:	n/a	n/a
6	POLR2A	chr6:26322401-26322657	A549	lung:	n/a	n/a
7	POLR2A	chr6:26321994-26322703	PANC-1	pancreas:	n/a	n/a
8	ZC3H11A	chr6:26322243-26322651	K562	blood:	n/a	n/a
9	MAX	chr6:26322345-26323519	A549	lung:	n/a	n/a
10	ETS1	chr6:26322248-26322647	A549	lung:	n/a	n/a
11	CTCF	chr6:26322237-26322702	IMR90	lung:	n/a	n/a
12	CTCF	chr6:26322500-26322650	A549	lung:	n/a	n/a
13	TRIM28	chr6:26322053-26323670	K562	blood:	n/a	n/a
14	HEY1	chr6:26322038-26322774	K562	blood:	n/a	n/a
15	PML	chr6:26322072-26323530	GM12878	blood:	n/a	n/a
16	TBL1XR1	chr6:26322293-26323565	K562	blood:	n/a	n/a
17	TCF12	chr6:26322075-26323530	A549	lung:	n/a	n/a
18	MAX	chr6:26322341-26322794	SK-N-SH	brain:	n/a	n/a
19	CTCF	chr6:26322262-26322645	A549	lung:	n/a	n/a
20	SP1	chr6:26322042-26322626	GM12878	blood:	n/a	n/a
21	NR2F2	chr6:26321928-26323880	K562	blood:	n/a	n/a
22	MAX	chr6:26322471-26323294	HepG2	liver:	n/a	n/a
23	ZNF143	chr6:26322228-26322653	GM12878	blood:	n/a	chr6:26322580-26322590
24	POLR2A	chr6:26322328-26322644	K562	blood:	n/a	n/a
25	YY1	chr6:26322305-26322934	HepG2	liver:	n/a	n/a
26	YY1	chr6:26322226-26323113	GM12878	blood:	n/a	n/a
27	SIN3AK20	chr6:26322128-26323669	MCF-7	breast:	n/a	n/a
28	ELF1	chr6:26322302-26322855	GM12878	blood:	n/a	n/a
29	KAP1	chr6:26322237-26323816	U2OS	brain:	n/a	n/a
30	TCF12	chr6:26322305-26322647	GM12878	blood:	n/a	n/a
31	CTCF	chr6:26322125-26322627	A549	lung:	n/a	n/a
32	MAX	chr6:26322130-26323482	HCT-116	colon:	n/a	n/a
33	FOXM1	chr6:26322042-26322786	GM12878	blood:	n/a	n/a
34	YY1	chr6:26322050-26322924	K562	blood:	n/a	n/a
35	CTCF	chr6:26322267-26322653	MCF-7	breast:	n/a	n/a
36	FOSL2	chr6:26322015-26322673	HepG2	liver:	n/a	n/a
37	HCFC1	chr6:26322266-26323375	K562	blood:	n/a	n/a
38	POLR2A	chr6:26322422-26322771	MCF-7	breast:	n/a	n/a
39	ZNF143	chr6:26322241-26322683	H1-hESC	embryonic stem cell:	n/a	chr6:26322580-26322590
40	CTCF	chr6:26322292-26322655	Fibrobl	skin:	n/a	n/a
41	ZNF143	chr6:26322301-26322627	Hela-S3	cervix:	n/a	chr6:26322580-26322590
42	CTCF	chr6:26322288-26322697	HepG2	liver:	n/a	n/a
43	CTCF	chr6:26322157-26322760	K562	blood:	n/a	n/a
44	POLR2A	chr6:26322117-26322679	HCT-116	colon:	n/a	n/a
45	GTF3C2	chr6:26322085-26323587	Hela-S3	cervix:	n/a	n/a
46	POLR2A	chr6:26322184-26322721	HL-60	blood:	n/a	n/a
47	FOSL2	chr6:26322189-26322652	A549	lung:	n/a	n/a
48	MAX	chr6:26322532-26323488	K562	blood:	n/a	n/a
49	RCOR1	chr6:26322242-26323438	Hela-S3	cervix:	n/a	n/a
50	HMGN3	chr6:26322427-26322772	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr1:226250046..226250889-chr6:26322132..26323073,2	NB4	blood:
2	chr6:26273199..26275817-chr6:26322608..26324495,2	MCF-7	breast:
3	chr6:26321606..26324992-chr6:26518176..26520933,3	K562	blood:

No data

Variant related genes	Relation type
HIST1H3PS1	TF binding region
ENSG00000199289	Chromatin interaction
ENSG00000163041	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs11751564	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11751567	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11754168	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11754384	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11754746	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11755795	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11756428	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11757214	0.80[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11757736	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11759682	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11962642	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2006005	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2006006	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34434694	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3823157	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs41266829	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41266831	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56768418	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs57145038	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs57530446	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs59225416	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs60122474	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60228626	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61082103	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61213538	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs61625476	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6901243	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6916643	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6938696	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73393491	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73393492	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73395313	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73395314	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73397320	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73397336	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73397339	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73397347	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73397364	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs73399366	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73401208	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs73401228	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73401231	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73401236	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs73401243	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7740838	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7761779	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7773163	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9688734	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029920	chr6:25638507-26585842	Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1215 gene(s)	inside rSNPs	diseases
2	nsv538162	chr6:25638507-26585842	Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1215 gene(s)	inside rSNPs	diseases
3	nsv1030351	chr6:25813178-26352046	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1189 gene(s)	inside rSNPs	diseases
4	nsv1023453	chr6:25853830-26528250	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers 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 target site	1201 gene(s)	inside rSNPs	diseases
5	nsv428137	chr6:25987413-26351920	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1181 gene(s)	inside rSNPs	diseases
6	nsv1015782	chr6:26026870-26323895	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	1114 gene(s)	inside rSNPs	diseases
7	nsv1018665	chr6:26026870-26352046	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	1116 gene(s)	inside rSNPs	diseases
8	nsv482729	chr6:26291011-26470898	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
9	nsv525347	chr6:26313348-26322985	Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
10	nsv969357	chr6:26321434-26323580	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv5230	chr6:26321593-26361531	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:26318600-26323400	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr6:26318800-26323200	Active TSS	H9 Cell Line	embryonic stem cell
3	chr6:26319000-26322800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
4	chr6:26319000-26323000	Active TSS	H1 Cell Line	embryonic stem cell
5	chr6:26319000-26323000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr6:26321200-26323000	Active TSS	HUVEC	blood vessel
7	chr6:26321200-26323800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr6:26321400-26322800	Active TSS	NHLF	lung
9	chr6:26321400-26323000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr6:26321400-26323000	Active TSS	HMEC	breast
11	chr6:26321400-26323200	Active TSS	HepG2	liver
12	chr6:26321400-26323400	Active TSS	GM12878-XiMat	blood
13	chr6:26321400-26323600	Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr6:26321600-26323000	Active TSS	Primary hematopoietic stem cells short term culture	blood
15	chr6:26321600-26323000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr6:26321600-26323000	Active TSS	NHDF-Ad	bronchial
17	chr6:26321600-26323000	Active TSS	NHEK	skin
18	chr6:26321600-26323200	Active TSS	iPS-15b Cell Line	embryonic stem cell
19	chr6:26321600-26323200	Active TSS	Hela-S3	cervix
20	chr6:26321600-26323200	Active TSS	K562	blood
21	chr6:26321600-26323400	Active TSS	HUES64 Cell Line	embryonic stem cell
22	chr6:26321600-26323600	Active TSS	HUES48 Cell Line	embryonic stem cell
23	chr6:26321600-26323600	Active TSS	iPS-20b Cell Line	embryonic stem cell
24	chr6:26321600-26323600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr6:26321600-26323800	Active TSS	A549	lung
26	chr6:26321800-26323000	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr6:26321800-26323000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr6:26321800-26323000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr6:26321800-26323000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr6:26321800-26323000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr6:26321800-26323000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr6:26321800-26323000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr6:26321800-26323000	Active TSS	Muscle Satellite Cultured Cells	--
34	chr6:26321800-26323000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr6:26321800-26323000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr6:26321800-26323000	Active TSS	Psoas Muscle	Psoas
37	chr6:26321800-26323000	Active TSS	Dnd41	blood
38	chr6:26321800-26323000	Active TSS	NH-A	brain
39	chr6:26321800-26323200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr6:26321800-26323400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr6:26321800-26323600	Active TSS	HSMM	muscle
42	chr6:26321800-26323800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr6:26322000-26322800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
44	chr6:26322000-26322800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr6:26322000-26322800	Bivalent/Poised TSS	Brain Dorsolateral Prefrontal Cortex	brain
46	chr6:26322000-26322800	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
47	chr6:26322000-26322800	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
48	chr6:26322000-26322800	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
49	chr6:26322000-26322800	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
50	chr6:26322000-26323000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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