Variant report

Variant	rs115862581
Chromosome Location	chr6:30851360-30851361
allele	C/T
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	ZBTB7A	chr6:30851220-30852908	ECC-1	luminal epithelium:	n/a	n/a
2	POLR2A	chr6:30849612-30852127	H1-hESC	embryonic stem cell:	n/a	n/a
3	RUNX3	chr6:30850795-30851733	GM12878	blood:	n/a	n/a
4	MYC	chr6:30851190-30852409	A549	lung:	n/a	n/a
5	POLR2A	chr6:30850520-30854067	MCF-7	breast:	n/a	n/a
6	POLR2A	chr6:30850369-30853408	MCF-7	breast:	n/a	n/a
7	MTA3	chr6:30850609-30851992	GM12878	blood:	n/a	n/a
8	BRCA1	chr6:30851313-30851634	GM12878	blood:	n/a	n/a
9	ZEB1	chr6:30850520-30852290	GM12878	blood:	n/a	chr6:30851704-30851711 chr6:30850657-30850664
10	ZNF263	chr6:30851140-30851875	HEK293-T-REx	kidney:	n/a	chr6:30851324-30851345
11	EBF1	chr6:30850301-30852317	GM12878	blood:	n/a	chr6:30850749-30850760 chr6:30850782-30850793 chr6:30850783-30850792 chr6:30850781-30850794
12	TAF1	chr6:30850847-30851383	GM12878	blood:	n/a	n/a
13	POLR2A	chr6:30850918-30851405	GM12878	blood:	n/a	n/a
14	ZNF143	chr6:30851123-30851399	GM12878	blood:	n/a	n/a
15	POLR2A	chr6:30848255-30854769	H1-neurons	neurons:	n/a	n/a
16	POLR2A	chr6:30850866-30851946	GM12878	blood:	n/a	n/a
17	SPI1	chr6:30851097-30852102	GM12878	blood:	n/a	n/a
18	MAX	chr6:30850276-30851375	MCF-7	breast:	n/a	n/a
19	SIN3A	chr6:30848439-30851375	H1-hESC	embryonic stem cell:	n/a	chr6:30850626-30850634 chr6:30848762-30848775 chr6:30848769-30848782 chr6:30849877-30849886 chr6:30850627-30850636
20	MAX	chr6:30850812-30852250	GM12878	blood:	n/a	n/a
21	PAX5	chr6:30850891-30851464	GM12892	blood:	n/a	chr6:30851056-30851074
22	MAZ	chr6:30851340-30851382	K562	blood:	n/a	n/a
23	REST	chr6:30848004-30855226	H1-neurons	neurons:	n/a	chr6:30850005-30850018 chr6:30849842-30849855 chr6:30848363-30848383 chr6:30848363-30848383 chr6:30848771-30848781 chr6:30850231-30850245 chr6:30849152-30849172 chr6:30848363-30848383 chr6:30854903-30854911 chr6:30848769-30848782 chr6:30848762-30848775 chr6:30848256-30848264
24	MAZ	chr6:30851256-30854874	IMR90	lung:	n/a	chr6:30854028-30854037 chr6:30854029-30854038 chr6:30854405-30854414 chr6:30853729-30853739 chr6:30853369-30853379
25	TCF12	chr6:30850778-30851379	ECC-1	luminal epithelium:	n/a	n/a
26	MAX	chr6:30850728-30851427	ECC-1	luminal epithelium:	n/a	n/a
27	ZBTB7A	chr6:30850427-30852220	ECC-1	luminal epithelium:	n/a	n/a
28	NFIC	chr6:30850753-30851779	GM12878	blood:	n/a	n/a
29	MAZ	chr6:30850992-30852870	GM12878	blood:	n/a	n/a
30	TBL1XR1	chr6:30850853-30851543	GM12878	blood:	n/a	n/a
31	SIN3AK20	chr6:30850284-30854390	MCF-7	breast:	n/a	n/a
32	POLR2A	chr6:30850434-30852268	HCT-116	colon:	n/a	n/a
33	RUNX3	chr6:30850862-30851624	GM12878	blood:	n/a	n/a
34	POLR2A	chr6:30850833-30851477	A549	lung:	n/a	n/a
35	RCOR1	chr6:30851107-30852391	K562	blood:	n/a	n/a
36	POLR2A	chr6:30850826-30851392	GM12878	blood:	n/a	n/a
37	POLR2A	chr6:30850999-30851402	H1-hESC	embryonic stem cell:	n/a	n/a
38	STAT5A	chr6:30850972-30852022	GM12878	blood:	n/a	n/a
39	POLR2A	chr6:30850600-30851906	Raji	blood:	n/a	n/a
40	PAX5	chr6:30850769-30851447	GM12878	blood:	n/a	chr6:30851056-30851074
41	TEAD4	chr6:30850790-30852182	K562	blood:	n/a	n/a
42	TBP	chr6:30851008-30851389	GM12878	blood:	n/a	n/a
43	POLR2A	chr6:30851258-30853260	K562	blood:	n/a	n/a
44	POLR2A	chr6:30850510-30853141	MCF-7	breast:	n/a	n/a
45	POLR2A	chr6:30850427-30851439	HCT-116	colon:	n/a	n/a
46	ELF1	chr6:30850443-30852479	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:24536865..24538833-chr6:30851271..30852816,2	MCF-7	breast:
2	chr6:30850840..30855328-chr6:30877838..30882665,10	MCF-7	breast:
3	chr6:30456342..30459390-chr6:30850533..30854331,4	MCF-7	breast:
4	chr6:30582584..30584188-chr6:30850937..30852766,2	K562	blood:
5	chr6:30847750..30854588-chr6:30880214..30885422,8	K562	blood:
6	chr6:30847234..30851507-chr6:30857768..30862295,8	K562	blood:
7	chr6:30850869..30853262-chr6:30889505..30891289,2	MCF-7	breast:
8	chr6:30748758..30751430-chr6:30850690..30852588,5	MCF-7	breast:
9	chr6:30850512..30853465-chr6:30873614..30877587,4	K562	blood:
10	chr6:30798389..30801828-chr6:30850243..30854490,5	MCF-7	breast:
11	chr6:30849765..30853673-chr6:30873635..30876591,7	MCF-7	breast:
12	chr6:30717879..30721732-chr6:30850020..30854415,6	MCF-7	breast:
13	chr6:30850549..30855941-chr6:30880357..30883667,13	MCF-7	breast:
14	chr6:30687338..30691474-chr6:30850428..30854318,11	MCF-7	breast:
15	chr6:30670303..30672566-chr6:30849321..30851988,2	MCF-7	breast:
16	chr6:30538401..30540196-chr6:30850753..30853451,2	MCF-7	breast:
17	chr6:30582976..30585649-chr6:30850283..30854979,5	MCF-7	breast:
18	chr12:120727928..120730827-chr6:30850671..30852390,2	MCF-7	breast:
19	chr6:30851061..30852670-chr6:30885316..30887287,2	MCF-7	breast:
20	chr6:30705171..30717521-chr6:30843972..30856100,74	MCF-7	breast:
21	chr6:30814424..30817937-chr6:30849019..30852528,4	MCF-7	breast:
22	chr6:30704403..30722478-chr6:30842859..30858629,100	MCF-7	breast:
23	chr6:30848838..30854096-chr6:30874501..30878794,8	MCF-7	breast:
24	chr6:30849687..30852078-chr6:30875212..30877587,2	K562	blood:
25	chr6:30652677..30655941-chr6:30850357..30852153,3	MCF-7	breast:
26	chr6:30581806..30587588-chr6:30850201..30854112,13	MCF-7	breast:
27	chr6:30830444..30833119-chr6:30851282..30854552,3	MCF-7	breast:
28	chr6:30780598..30803497-chr6:30842531..30855110,80	MCF-7	breast:
29	chr6:30850897..30852602-chr6:31080609..31083224,2	MCF-7	breast:
30	chr6:30849184..30852666-chr6:30852715..30854490,5	K562	blood:
31	chr6:30685105..30690458-chr6:30847596..30854595,13	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-GTF2H4-5	chr6:30851178-30851664	NONHSAT108692

Variant related genes	Relation type
DDR1	TF binding region
ENSG00000204592	Chromatin interaction
ENSG00000202538	Chromatin interaction
ENSG00000214894	Chromatin interaction
ENSG00000264731	Chromatin interaction
ENSG00000204540	Chromatin interaction
ENSG00000228022	Chromatin interaction
ENSG00000264594	Chromatin interaction
ENSG00000137411	Chromatin interaction
ENSG00000213780	Chromatin interaction
ENSG00000237923	Chromatin interaction
ENSG00000196230	Chromatin interaction
ENSG00000204569	Chromatin interaction
ENSG00000204574	Chromatin interaction
ENSG00000137331	Chromatin interaction
ENSG00000137312	Chromatin interaction
ENSG00000222894	Chromatin interaction
ENSG00000272273	Chromatin interaction
ENSG00000263608	Chromatin interaction
ENSG00000202241	Chromatin interaction
ENSG00000137337	Chromatin interaction
ENSG00000204580	Chromatin interaction
ENSG00000228791	Chromatin interaction
ENSG00000224328	Chromatin interaction
ENSG00000146112	Chromatin interaction
ENSG00000204568	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3519970	chr6:30382942-31378788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
2	esv3519971	chr6:30382942-31378788	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' 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	1030 gene(s)	inside rSNPs	diseases
3	nsv601481	chr6:30422632-31284253	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1012 gene(s)	inside rSNPs	diseases
4	nsv1015372	chr6:30704734-31582152	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
5	nsv538173	chr6:30704734-31582152	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
6	nsv884109	chr6:30824532-30872203	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
7	nsv884110	chr6:30845563-30856463	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
8	nsv884111	chr6:30845563-30864279	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
9	nsv884112	chr6:30845563-30866618	Flanking Active TSS Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
10	nsv601482	chr6:30846830-30854090	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
11	nsv884113	chr6:30846830-30857542	Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
12	nsv884114	chr6:30846830-30867830	Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers 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	28 gene(s)	inside rSNPs	diseases
13	nsv884115	chr6:30847710-30858991	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
14	nsv884116	chr6:30848253-30864279	Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
15	nsv884117	chr6:30849124-30862423	Flanking Active TSS Active TSS Strong transcription Genic enhancers Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
16	nsv884118	chr6:30849822-30855907	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
17	nsv884119	chr6:30849822-30856692	Active TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
18	nsv884120	chr6:30849822-30864279	Genic enhancers Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
19	nsv884121	chr6:30850191-30856692	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
20	nsv884122	chr6:30850191-30858991	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
21	nsv884123	chr6:30850191-30865904	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
22	esv3420993	chr6:30850923-30853321	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30846000-30851400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr6:30846000-30851600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr6:30846000-30851600	Weak transcription	Liver	Liver
4	chr6:30846000-30851600	Weak transcription	HUVEC	blood vessel
5	chr6:30846200-30851400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr6:30848200-30851400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr6:30848200-30851600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
8	chr6:30848400-30851600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr6:30848600-30852000	Enhancers	NH-A	brain
10	chr6:30848800-30851600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
11	chr6:30848800-30851600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr6:30848800-30851800	Flanking Active TSS	Brain Germinal Matrix	brain
13	chr6:30849000-30851400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
14	chr6:30849000-30851400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
15	chr6:30849000-30851600	Enhancers	HSMM	muscle
16	chr6:30849200-30852000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
17	chr6:30849200-30852200	Enhancers	Fetal Heart	heart
18	chr6:30849400-30851400	Enhancers	Thymus	Thymus
19	chr6:30849400-30851600	Enhancers	Muscle Satellite Cultured Cells	--
20	chr6:30849400-30851800	Flanking Active TSS	H1 Cell Line	embryonic stem cell
21	chr6:30849400-30851800	Enhancers	NHLF	lung
22	chr6:30849600-30851400	Enhancers	Brain Substantia Nigra	brain
23	chr6:30849600-30851400	Enhancers	Colon Smooth Muscle	Colon
24	chr6:30849600-30851800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr6:30849800-30851600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr6:30849800-30851800	Enhancers	Fetal Brain Male	brain
27	chr6:30850000-30851400	Flanking Active TSS	NHEK	skin
28	chr6:30850000-30851600	Enhancers	Adipose Nuclei	Adipose
29	chr6:30850000-30851800	Enhancers	Brain Angular Gyrus	brain
30	chr6:30850000-30851800	Weak transcription	Osteobl	bone
31	chr6:30850000-30853000	Active TSS	H9 Cell Line	embryonic stem cell
32	chr6:30850200-30851400	Enhancers	Primary T cells fromperipheralblood	blood
33	chr6:30850200-30851400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr6:30850200-30851400	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr6:30850200-30851800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr6:30850200-30851800	Flanking Active TSS	Fetal Intestine Small	intestine
37	chr6:30850200-30852200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
38	chr6:30850200-30852800	Active TSS	Gastric	stomach
39	chr6:30850400-30851600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
40	chr6:30850400-30851600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr6:30850400-30851600	Enhancers	HSMMtube	muscle
42	chr6:30850400-30851800	Enhancers	Left Ventricle	heart
43	chr6:30850400-30851800	Genic enhancers	Right Atrium	heart
44	chr6:30850400-30852600	Active TSS	Sigmoid Colon	Sigmoid Colon
45	chr6:30850400-30852800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr6:30850400-30853000	Active TSS	Breast Myoepithelial Primary Cells	Breast
47	chr6:30850400-30853200	Active TSS	Rectal Smooth Muscle	rectum
48	chr6:30850600-30851400	Flanking Active TSS	Fetal Muscle Trunk	muscle
49	chr6:30850600-30851600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr6:30850600-30851600	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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