Variant report

Variant	rs373679395
Chromosome Location	chr6:58287239-58287240
allele	-/TAAC
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	POLR2A	chr6:58287155-58288262	PFSK-1	brain:	n/a	n/a
2	POLR2A	chr6:58287126-58287873	GM12878	blood:	n/a	n/a
3	PAX5	chr6:58287226-58287907	GM12878	blood:	n/a	n/a
4	POU2F2	chr6:58287233-58287971	GM12891	blood:	n/a	n/a
5	SIN3AK20	chr6:58287182-58287985	SK-N-SH	brain:	n/a	n/a
6	TAF1	chr6:58287136-58288023	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr6:58287188-58287877	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr6:58287208-58287899	H1-hESC	embryonic stem cell:	n/a	n/a
9	GABPA	chr6:58287147-58287997	Hela-S3	cervix:	n/a	n/a
10	TAF1	chr6:58287096-58287933	Hela-S3	cervix:	n/a	n/a
11	POU2F2	chr6:58287189-58288008	GM12878	blood:	n/a	n/a
12	POLR2A	chr6:58287134-58287908	GM12878	blood:	n/a	n/a
13	POLR2A	chr6:58287206-58287909	GM12891	blood:	n/a	n/a
14	POLR2A	chr6:58287236-58287240	HepG2	liver:	n/a	n/a
15	POLR2A	chr6:58287180-58287910	Hela-S3	cervix:	n/a	n/a
16	SIN3AK20	chr6:58287185-58287859	HepG2	liver:	n/a	n/a
17	POU2F2	chr6:58287208-58287934	GM12891	blood:	n/a	n/a
18	TAF1	chr6:58287116-58287831	Hela-S3	cervix:	n/a	n/a
19	POLR2A	chr6:58287213-58287948	MCF-7	breast:	n/a	n/a
20	POLR2A	chr6:58287137-58287935	GM12892	blood:	n/a	n/a
21	MXI1	chr6:58287112-58288128	SK-N-SH	brain:	n/a	n/a
22	PAX5	chr6:58287211-58287920	GM12878	blood:	n/a	chr6:58287213-58287222
23	IRF4	chr6:58287126-58288004	GM12878	blood:	n/a	n/a
24	HEY1	chr6:58287165-58288114	HepG2	liver:	n/a	chr6:58287539-58287554
25	POLR2A	chr6:58287136-58288052	H1-hESC	embryonic stem cell:	n/a	n/a
26	HEY1	chr6:58287232-58287915	K562	blood:	n/a	chr6:58287539-58287554
27	IRF4	chr6:58287131-58287451	GM12878	blood:	n/a	n/a
28	FOSL2	chr6:58287187-58287993	HepG2	liver:	n/a	n/a
29	POLR2A	chr6:58287153-58287894	GM12892	blood:	n/a	n/a
30	PAX5	chr6:58287115-58288064	GM12878	blood:	n/a	chr6:58287210-58287219 chr6:58287213-58287222
31	HCFC1	chr6:58287216-58287927	Hela-S3	cervix:	n/a	n/a
32	POLR2A	chr6:58287202-58287915	K562	blood:	n/a	n/a
33	POLR2A	chr6:58287215-58287986	GM12892	blood:	n/a	n/a
34	SIN3AK20	chr6:58287128-58287475	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:37379216..37379885-chr6:58287233..58287739,2	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000225096	TF binding region
ENSG00000082068	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:38 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv436517	chr6:57696174-58296165	Bivalent/Poised TSS Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	esv3332363	chr6:57709182-58454441	Weak transcription Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	esv3426791	chr6:57741382-58349943	Enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	esv3440047	chr6:57766598-58396144	Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	esv3372144	chr6:57908014-58519523	Strong transcription Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv435830	chr6:57912721-58515824	Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
7	esv3503622	chr6:57916040-58522258	Bivalent/Poised TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
8	esv3503623	chr6:57916040-58522258	Strong transcription Enhancers Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
9	esv3445656	chr6:57975137-58576488	Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
10	nsv821647	chr6:58067314-58678227	Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
11	nsv869817	chr6:58071721-58614002	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
12	nsv885965	chr6:58075480-58308955	Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
13	nsv523720	chr6:58075480-58770624	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS Strong transcription Enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
14	nsv1024377	chr6:58082084-58774716	Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
15	nsv428148	chr6:58137660-58406917	Weak transcription Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
16	nsv1020262	chr6:58140288-58774716	ZNF genes & repeats Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
17	esv2760987	chr6:58140300-58774716	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
18	nsv1029158	chr6:58142069-58759016	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
19	nsv1017058	chr6:58165571-58774716	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
20	nsv1026793	chr6:58181781-58422630	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
21	nsv538259	chr6:58182242-58656519	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
22	nsv1019643	chr6:58213416-58350871	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
23	nsv1029598	chr6:58213416-58358630	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
24	nsv1030059	chr6:58222882-58377586	Weak transcription Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
25	nsv603237	chr6:58231219-58780055	Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	71 gene(s)	inside rSNPs	diseases
26	nsv885966	chr6:58238236-58333290	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
27	nsv1024304	chr6:58249544-58377586	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
28	nsv969409	chr6:58266198-58398028	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
29	nsv1033219	chr6:58272436-58350871	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
30	nsv1032544	chr6:58272436-58357395	Strong transcription Flanking Active TSS Weak transcription Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
31	nsv1021741	chr6:58272436-58358630	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
32	nsv1019797	chr6:58272436-58377586	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
33	nsv1022863	chr6:58272436-58386729	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
34	nsv462956	chr6:58272623-58357694	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
35	nsv603238	chr6:58272623-58357694	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
36	nsv527797	chr6:58278898-58368631	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
37	nsv462957	chr6:58285920-58770624	Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
38	nsv603239	chr6:58285920-58770624	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:58286400-58288000	Active TSS	Primary hematopoietic stem cells short term culture	blood
2	chr6:58286400-58288200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr6:58286400-58288200	Active TSS	Duodenum Smooth Muscle	Duodenum
4	chr6:58286400-58288200	Active TSS	HepG2	liver
5	chr6:58286600-58287600	Active TSS	GM12878-XiMat	blood
6	chr6:58286600-58288000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr6:58286600-58288000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr6:58286600-58288000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr6:58286600-58288000	Active TSS	iPS-20b Cell Line	embryonic stem cell
10	chr6:58286600-58288000	Active TSS	Muscle Satellite Cultured Cells	--
11	chr6:58286600-58288000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr6:58286600-58288000	Active TSS	Brain Germinal Matrix	brain
13	chr6:58286600-58288000	Active TSS	Fetal Brain Female	brain
14	chr6:58286600-58288000	Active TSS	Fetal Lung	lung
15	chr6:58286600-58288000	Active TSS	HMEC	breast
16	chr6:58286600-58288000	Active TSS	NHDF-Ad	bronchial
17	chr6:58286600-58288200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr6:58286600-58288200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr6:58286600-58288200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr6:58286600-58288200	Active TSS	Breast Myoepithelial Primary Cells	Breast
21	chr6:58286600-58288200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr6:58286600-58288200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr6:58286600-58288200	Active TSS	Stomach Smooth Muscle	stomach
24	chr6:58286600-58288200	Active TSS	Osteobl	bone
25	chr6:58286800-58287800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr6:58286800-58287800	Active TSS	Primary hematopoietic stem cells	blood
27	chr6:58286800-58287800	Active TSS	Dnd41	blood
28	chr6:58286800-58288200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr6:58286800-58288200	Active TSS	Cortex derived primary cultured neurospheres	brain
30	chr6:58286800-58288200	Active TSS	Adipose Nuclei	Adipose
31	chr6:58287000-58287400	Active TSS	Fetal Brain Male	brain
32	chr6:58287000-58287600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr6:58287000-58287800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
34	chr6:58287000-58287800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr6:58287000-58287800	Active TSS	Primary T helper naive cells from peripheral blood	blood
36	chr6:58287000-58287800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr6:58287000-58287800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
38	chr6:58287000-58287800	Active TSS	Liver	Liver
39	chr6:58287000-58287800	Active TSS	Fetal Intestine Large	intestine
40	chr6:58287000-58287800	Active TSS	Monocytes-CD14+_RO01746	blood
41	chr6:58287000-58288000	Active TSS	HUES48 Cell Line	embryonic stem cell
42	chr6:58287000-58288000	Active TSS	HUES64 Cell Line	embryonic stem cell
43	chr6:58287000-58288000	Active TSS	iPS-15b Cell Line	embryonic stem cell
44	chr6:58287000-58288000	Active TSS	iPS-18 Cell Line	embryonic stem cell
45	chr6:58287000-58288000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr6:58287000-58288000	Active TSS	Brain Angular Gyrus	brain
47	chr6:58287000-58288000	Active TSS	Brain Anterior Caudate	brain
48	chr6:58287000-58288000	Active TSS	Colonic Mucosa	Colon
49	chr6:58287000-58288000	Active TSS	Fetal Intestine Small	intestine
50	chr6:58287000-58288000	Active TSS	Fetal Kidney	kidney

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