Variant report

Variant	rs372879576
Chromosome Location	chr6:30852007-30852008
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:98)
CpG islands
(count:0)
Chromatin interactive
region (count:31)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:98 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SIN3A	chr6:30851614-30854616	H1-hESC	embryonic stem cell:	n/a	chr6:30854237-30854248
2	FOXA1	chr6:30851672-30852028	T-47D	breast:	n/a	n/a
3	HA-E2F1	chr6:30851756-30852642	Hela-S3	cervix:	n/a	chr6:30851905-30851915
4	CEBPD	chr6:30851505-30852112	HepG2	liver:	n/a	n/a
5	ZBTB7A	chr6:30851220-30852908	ECC-1	luminal epithelium:	n/a	n/a
6	MYC	chr6:30851991-30852342	MCF-7	breast:	n/a	n/a
7	TAF1	chr6:30851583-30852485	H1-neurons	neurons:	n/a	n/a
8	POLR2A	chr6:30851932-30852424	GM12878	blood:	n/a	n/a
9	POLR2A	chr6:30849612-30852127	H1-hESC	embryonic stem cell:	n/a	n/a
10	MYC	chr6:30851190-30852409	A549	lung:	n/a	n/a
11	EP300	chr6:30851643-30852237	T-47D	breast:	n/a	chr6:30852108-30852124
12	MAX	chr6:30851497-30852432	MCF-7	breast:	n/a	n/a
13	UBTF	chr6:30851769-30852491	K562	blood:	n/a	n/a
14	MAX	chr6:30851833-30852291	K562	blood:	n/a	n/a
15	ZBTB7A	chr6:30851397-30852663	K562	blood:	n/a	n/a
16	MYC	chr6:30851671-30852365	K562	blood:	n/a	n/a
17	E2F6	chr6:30851866-30852419	K562	blood:	n/a	chr6:30851905-30851915
18	POLR2A	chr6:30850520-30854067	MCF-7	breast:	n/a	n/a
19	POLR2A	chr6:30851895-30852385	GM12878	blood:	n/a	n/a
20	TAF1	chr6:30851782-30852346	K562	blood:	n/a	n/a
21	MXI1	chr6:30851462-30854889	IMR90	lung:	n/a	chr6:30854399-30854414 chr6:30852833-30852842
22	POLR2A	chr6:30850369-30853408	MCF-7	breast:	n/a	n/a
23	EGR1	chr6:30851714-30852219	ECC-1	luminal epithelium:	n/a	chr6:30851952-30851966 chr6:30851937-30851951
24	MAX	chr6:30851690-30852444	ECC-1	luminal epithelium:	n/a	n/a
25	HDAC2	chr6:30851527-30852388	MCF-7	breast:	n/a	n/a
26	POLR2A	chr6:30851519-30853108	A549	lung:	n/a	n/a
27	ZEB1	chr6:30850520-30852290	GM12878	blood:	n/a	chr6:30851704-30851711 chr6:30850657-30850664
28	SIN3AK20	chr6:30851552-30852034	H1-hESC	embryonic stem cell:	n/a	n/a
29	EGR1	chr6:30851780-30852082	GM12878	blood:	n/a	chr6:30851952-30851966 chr6:30851937-30851951
30	EGR1	chr6:30851672-30852815	K562	blood:	n/a	chr6:30852743-30852757 chr6:30852666-30852680 chr6:30851952-30851966 chr6:30851937-30851951 chr6:30852665-30852678
31	ZBTB7A	chr6:30851639-30852330	K562	blood:	n/a	n/a
32	POLR2A	chr6:30851691-30852477	K562	blood:	n/a	n/a
33	TAF1	chr6:30851593-30852985	ECC-1	luminal epithelium:	n/a	n/a
34	POLR2A	chr6:30851817-30852352	GM15510	blood:	n/a	n/a
35	SIN3AK20	chr6:30851906-30852457	K562	blood:	n/a	n/a
36	HMGN3	chr6:30851650-30852893	K562	blood:	n/a	n/a
37	EBF1	chr6:30850301-30852317	GM12878	blood:	n/a	chr6:30850749-30850760 chr6:30850782-30850793 chr6:30850783-30850792 chr6:30850781-30850794
38	MAX	chr6:30851712-30852247	K562	blood:	n/a	n/a
39	MAZ	chr6:30851713-30853069	Hela-S3	cervix:	n/a	n/a
40	EP300	chr6:30851609-30852396	T-47D	breast:	n/a	chr6:30852108-30852124
41	POLR2A	chr6:30848255-30854769	H1-neurons	neurons:	n/a	n/a
42	TCF12	chr6:30851505-30852886	ECC-1	luminal epithelium:	n/a	n/a
43	UBTF	chr6:30851451-30853194	K562	blood:	n/a	n/a
44	POLR2A	chr6:30851488-30852468	HepG2	liver:	n/a	n/a
45	E2F6	chr6:30851866-30852137	K562	blood:	n/a	chr6:30851905-30851915
46	POLR2A	chr6:30851796-30852383	A549	lung:	n/a	n/a
47	SPI1	chr6:30851097-30852102	GM12878	blood:	n/a	n/a
48	MYC	chr6:30851832-30852371	K562	blood:	n/a	n/a
49	EGR1	chr6:30851780-30852124	GM12878	blood:	n/a	chr6:30851952-30851966 chr6:30851937-30851951
50	TFAP2C	chr6:30851413-30852212	Hela-S3	cervix:	n/a	n/a

No data

(count:31 , 50 per page) page: 1

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	chr17:56735048..56737037-chr6:30851531..30853489,2	MCF-7	breast:
4	chr6:30456342..30459390-chr6:30850533..30854331,4	MCF-7	breast:
5	chr6:30582584..30584188-chr6:30850937..30852766,2	K562	blood:
6	chr6:30847750..30854588-chr6:30880214..30885422,8	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	chr6:30538401..30540196-chr6:30850753..30853451,2	MCF-7	breast:
16	chr6:30582976..30585649-chr6:30850283..30854979,5	MCF-7	breast:
17	chr12:120727928..120730827-chr6:30850671..30852390,2	MCF-7	breast:
18	chr6:30851061..30852670-chr6:30885316..30887287,2	MCF-7	breast:
19	chr6:30705171..30717521-chr6:30843972..30856100,74	MCF-7	breast:
20	chr6:30814424..30817937-chr6:30849019..30852528,4	MCF-7	breast:
21	chr6:30689083..30692064-chr6:30851539..30853940,2	K562	blood:
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 data

Variant related genes	Relation type
DDR1	TF binding region
ENSG00000214894	Chromatin interaction
ENSG00000204540	Chromatin interaction
ENSG00000272273	Chromatin interaction
ENSG00000222894	Chromatin interaction
ENSG00000137337	Chromatin interaction
ENSG00000237923	Chromatin interaction
ENSG00000202241	Chromatin interaction
ENSG00000202077	Chromatin interaction
ENSG00000228791	Chromatin interaction
ENSG00000204592	Chromatin interaction
ENSG00000204580	Chromatin interaction
ENSG00000204574	Chromatin interaction
ENSG00000204569	Chromatin interaction
ENSG00000137411	Chromatin interaction
ENSG00000204568	Chromatin interaction
ENSG00000272540	Chromatin interaction
ENSG00000196230	Chromatin interaction
ENSG00000137331	Chromatin interaction
ENSG00000146112	Chromatin interaction
ENSG00000137312	Chromatin interaction
ENSG00000228022	Chromatin interaction
ENSG00000264731	Chromatin interaction
ENSG00000213780	Chromatin interaction
ENSG00000202538	Chromatin interaction
ENSG00000263608	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:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30849200-30852200	Enhancers	Fetal Heart	heart
2	chr6:30850000-30853000	Active TSS	H9 Cell Line	embryonic stem cell
3	chr6:30850200-30852200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr6:30850200-30852800	Active TSS	Gastric	stomach
5	chr6:30850400-30852600	Active TSS	Sigmoid Colon	Sigmoid Colon
6	chr6:30850400-30852800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr6:30850400-30853000	Active TSS	Breast Myoepithelial Primary Cells	Breast
8	chr6:30850400-30853200	Active TSS	Rectal Smooth Muscle	rectum
9	chr6:30850600-30852600	Active TSS	Pancreas	Pancrea
10	chr6:30850600-30852600	Weak transcription	NHDF-Ad	bronchial
11	chr6:30850600-30853000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr6:30850600-30853000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr6:30850600-30853200	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr6:30850600-30854600	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr6:30850800-30854200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr6:30850800-30854400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
17	chr6:30851000-30853000	Active TSS	Small Intestine	intestine
18	chr6:30851400-30852200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
19	chr6:30851400-30852600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr6:30851400-30852600	Active TSS	Duodenum Mucosa	Duodenum
21	chr6:30851400-30852600	Enhancers	Spleen	Spleen
22	chr6:30851400-30852800	Active TSS	HUES6 Cell Line	embryonic stem cell
23	chr6:30851400-30852800	Active TSS	iPS-15b Cell Line	embryonic stem cell
24	chr6:30851400-30852800	Active TSS	iPS-20b Cell Line	embryonic stem cell
25	chr6:30851400-30853000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr6:30851400-30853000	Active TSS	Esophagus	oesophagus
27	chr6:30851400-30853400	Active TSS	Fetal Kidney	kidney
28	chr6:30851400-30854400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr6:30851600-30852600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr6:30851600-30852800	Active TSS	HUES48 Cell Line	embryonic stem cell
31	chr6:30851600-30852800	Active TSS	iPS-18 Cell Line	embryonic stem cell
32	chr6:30851600-30852800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr6:30851600-30852800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr6:30851600-30852800	Active TSS	Stomach Mucosa	stomach
35	chr6:30851600-30853000	Active TSS	HUES64 Cell Line	embryonic stem cell
36	chr6:30851600-30853200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr6:30851600-30853200	Active TSS	A549	lung
38	chr6:30851800-30852200	Transcr. at gene 5' and 3'	Right Atrium	heart
39	chr6:30851800-30852200	Weak transcription	HUVEC	blood vessel
40	chr6:30851800-30852400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr6:30851800-30852400	Flanking Active TSS	Primary hematopoietic stem cells	blood
42	chr6:30851800-30852600	Active TSS	H1 Cell Line	embryonic stem cell
43	chr6:30851800-30852600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr6:30851800-30852600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr6:30851800-30852600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
46	chr6:30851800-30852600	Bivalent/Poised TSS	Primary neutrophils fromperipheralblood	blood
47	chr6:30851800-30852600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr6:30851800-30852600	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
49	chr6:30851800-30852600	Active TSS	Liver	Liver
50	chr6:30851800-30852600	Weak transcription	Brain Angular Gyrus	brain

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