Variant report

Variant	rs573528093
Chromosome Location	chr7:27136654-27136655
allele	G/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	TAF1	chr7:27135460-27136905	ECC-1	luminal epithelium:	n/a	n/a
2	MAX	chr7:27135986-27136663	MCF-7	breast:	n/a	n/a
3	CTCF	chr7:27136580-27136730	GM12869	blood:	n/a	n/a
4	YY1	chr7:27136483-27136957	A549	lung:	n/a	n/a
5	SMARCC1	chr7:27135803-27137009	Hela-S3	cervix:	n/a	n/a
6	SPI1	chr7:27136630-27136900	GM12878	blood:	n/a	n/a
7	POLR2A	chr7:27135411-27136813	GM15510	blood:	n/a	n/a
8	POLR2A	chr7:27136532-27136787	A549	lung:	n/a	n/a
9	SUZ12	chr7:27136010-27137160	H1-hESC	embryonic stem cell:	n/a	n/a
10	CTBP2	chr7:27135700-27136871	H1-hESC	embryonic stem cell:	n/a	n/a
11	CHD2	chr7:27136548-27136945	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr7:27135368-27137088	GM18505	blood:	n/a	n/a
13	MYC	chr7:27136320-27137084	NB4	blood:	n/a	chr7:27136716-27136725 chr7:27136879-27136889
14	POLR2A	chr7:27136415-27136898	HCT-116	colon:	n/a	n/a
15	HA-E2F1	chr7:27135668-27136894	MCF-7	breast:	n/a	chr7:27136608-27136617 chr7:27136038-27136050
16	TCF12	chr7:27134818-27137091	A549	lung:	n/a	n/a
17	MAX	chr7:27135323-27137154	ECC-1	luminal epithelium:	n/a	chr7:27136716-27136725 chr7:27136879-27136889 chr7:27135675-27135684
18	POLR2A	chr7:27135373-27136916	ProgFib	skin:	n/a	n/a
19	POLR2A	chr7:27135355-27136783	MCF-7	breast:	n/a	n/a
20	POLR2A	chr7:27135416-27137465	MCF10A-Er-Src	breast:	n/a	n/a
21	POLR2A	chr7:27135019-27136995	MCF-7	breast:	n/a	n/a
22	POLR2A	chr7:27135394-27136819	GM19099	blood:	n/a	n/a
23	RCOR1	chr7:27136461-27136870	Hela-S3	cervix:	n/a	n/a
24	SIN3AK20	chr7:27136449-27137356	PANC-1	pancreas:	n/a	n/a
25	CREB1	chr7:27136435-27136742	A549	lung:	n/a	n/a
26	RAD21	chr7:27136627-27136667	Hela-S3	cervix:	n/a	n/a
27	HDAC2	chr7:27136485-27136829	HepG2	liver:	n/a	n/a
28	POLR2A	chr7:27135452-27136936	Gliobla	brain:	n/a	n/a
29	MYC	chr7:27136581-27136750	MCF-7	breast:	n/a	chr7:27136716-27136725
30	MAZ	chr7:27135452-27136930	Hela-S3	cervix:	n/a	chr7:27136716-27136725 chr7:27136879-27136889 chr7:27135675-27135684
31	POLR2A	chr7:27136432-27136893	U87	brain:	n/a	n/a
32	POLR2A	chr7:27135203-27137275	PANC-1	pancreas:	n/a	n/a
33	POLR2A	chr7:27135166-27139184	PANC-1	pancreas:	n/a	n/a
34	SIN3AK20	chr7:27135361-27136763	MCF-7	breast:	n/a	n/a
35	ZNF143	chr7:27136317-27136866	Hela-S3	cervix:	n/a	chr7:27136562-27136580 chr7:27136649-27136659 chr7:27136656-27136666
36	HA-E2F1	chr7:27135684-27136784	Hela-S3	cervix:	n/a	chr7:27136608-27136617 chr7:27136038-27136050
37	POLR2A	chr7:27135616-27136932	Hela-S3	cervix:	n/a	n/a
38	YY1	chr7:27136503-27136732	HCT-116	colon:	n/a	n/a
39	SMARCB1	chr7:27135150-27137019	Hela-S3	cervix:	n/a	n/a
40	MAX	chr7:27135426-27137038	Hela-S3	cervix:	n/a	chr7:27136716-27136725 chr7:27136879-27136889 chr7:27135675-27135684
41	POLR2A	chr7:27135236-27137056	GM19193	blood:	n/a	n/a
42	POLR2A	chr7:27135418-27137051	U87	brain:	n/a	n/a
43	MAX	chr7:27134969-27137180	NB4	blood:	n/a	chr7:27136716-27136725 chr7:27136879-27136889 chr7:27135675-27135684
44	SIN3A	chr7:27136614-27137076	GM12878	blood:	n/a	n/a
45	SIN3AK20	chr7:27134769-27137021	PANC-1	pancreas:	n/a	n/a
46	CTCF	chr7:27136632-27136734	GM13976	blood:	n/a	n/a
47	POLR2A	chr7:27135394-27139167	MCF10A-Er-Src	breast:	n/a	n/a
48	MAX	chr7:27135205-27136938	A549	lung:	n/a	chr7:27136716-27136725 chr7:27136879-27136889 chr7:27135675-27135684
49	POLR2A	chr7:27135359-27137007	HUVEC	blood vessel:	n/a	n/a
50	ZNF143	chr7:27136480-27136847	GM12878	blood:	n/a	chr7:27136562-27136580 chr7:27136649-27136659 chr7:27136656-27136666

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:26902705..26905667-chr7:27132555..27137263,6	MCF-7	breast:
2	chr7:27136545..27139680-chr7:27140711..27142949,3	K562	blood:
3	7:27130634-27137201..7:27230275-27238414	H1-hESC	embryonic stem cell:	embryo
4	7:27130634-27137201..7:27162022-27164727	H1-hESC	embryonic stem cell:	embryo
5	7:27082525-27089724..7:27130634-27137201	Hela-S3	cervix:

Variant related genes	Relation type
HOXA1	TF binding region
HOTAIRM1	TF binding region
ENSG00000105996	Chromatin interaction
ENSG00000253552	Chromatin interaction
ENSG00000005020	Chromatin interaction
ENSG00000213786	Chromatin interaction
ENSG00000106031	Chromatin interaction
ENSG00000253508	Chromatin interaction
ENSG00000243766	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:28 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025538	chr7:26482342-27376045	Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
2	nsv538805	chr7:26482342-27376045	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
3	nsv1018709	chr7:26990384-27216552	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	140 gene(s)	inside rSNPs	diseases
4	nsv538806	chr7:26990384-27216552	Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	140 gene(s)	inside rSNPs	diseases
5	nsv887856	chr7:27073731-27297791	Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	183 gene(s)	inside rSNPs	diseases
6	nsv824038	chr7:27119294-27284522	Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	183 gene(s)	inside rSNPs	diseases
7	nsv887857	chr7:27120689-27229549	Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
8	nsv824039	chr7:27121825-27294951	Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	183 gene(s)	inside rSNPs	diseases
9	nsv824040	chr7:27121870-27295010	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	183 gene(s)	inside rSNPs	diseases
10	nsv887858	chr7:27127231-27188659	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
11	nsv887860	chr7:27127231-27196069	Weak transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
12	nsv887859	chr7:27127231-27196113	Bivalent Enhancer Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
13	nsv887861	chr7:27127231-27206688	Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
14	nsv887862	chr7:27127231-27217359	Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	141 gene(s)	inside rSNPs	diseases
15	nsv887863	chr7:27127231-27243106	Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
16	nsv887864	chr7:27127231-27243962	Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
17	nsv887865	chr7:27127231-27247279	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
18	nsv887866	chr7:27127231-27248373	Bivalent/Poised TSS Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
19	nsv887867	chr7:27127231-27252246	Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
20	nsv824041	chr7:27128039-27294951	Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers 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 miRNA miRNA target site	183 gene(s)	inside rSNPs	diseases
21	nsv606463	chr7:27135314-27182245	Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
22	nsv887868	chr7:27135314-27202289	Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
23	nsv887869	chr7:27135314-27297791	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
24	nsv887870	chr7:27136308-27154737	Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
25	nsv887871	chr7:27136308-27179814	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
26	nsv887872	chr7:27136308-27181437	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
27	nsv887873	chr7:27136308-27186495	Bivalent/Poised TSS Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
28	nsv887874	chr7:27136308-27196069	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27134000-27137000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr7:27134200-27137000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
3	chr7:27134400-27139000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr7:27134400-27139000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr7:27134400-27139000	Active TSS	HMEC	breast
6	chr7:27134600-27136800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
7	chr7:27134600-27136800	Active TSS	A549	lung
8	chr7:27134600-27137400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr7:27134600-27137400	Active TSS	HSMMtube	muscle
10	chr7:27134600-27137400	Active TSS	NHEK	skin
11	chr7:27134600-27137600	Active TSS	Stomach Mucosa	stomach
12	chr7:27134800-27136800	Active TSS	HSMM	muscle
13	chr7:27134800-27136800	Active TSS	NHDF-Ad	bronchial
14	chr7:27134800-27137200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr7:27134800-27138800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr7:27134800-27139200	Bivalent/Poised TSS	NH-A	brain
17	chr7:27134800-27140200	Active TSS	Breast Myoepithelial Primary Cells	Breast
18	chr7:27135000-27136800	Active TSS	Liver	Liver
19	chr7:27135000-27136800	Active TSS	Rectal Smooth Muscle	rectum
20	chr7:27135000-27136800	Active TSS	Sigmoid Colon	Sigmoid Colon
21	chr7:27135000-27139400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
22	chr7:27135200-27136800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr7:27135200-27136800	Active TSS	Muscle Satellite Cultured Cells	--
24	chr7:27135200-27136800	Active TSS	Colon Smooth Muscle	Colon
25	chr7:27135200-27136800	Active TSS	Fetal Kidney	kidney
26	chr7:27135200-27136800	Bivalent/Poised TSS	Fetal Muscle Leg	muscle
27	chr7:27135200-27136800	Active TSS	Psoas Muscle	Psoas
28	chr7:27135200-27136800	Active TSS	Rectal Mucosa Donor 31	rectum
29	chr7:27135200-27136800	Active TSS	Spleen	Spleen
30	chr7:27135200-27136800	Active TSS	Hela-S3	cervix
31	chr7:27135200-27136800	Active TSS	Osteobl	bone
32	chr7:27135200-27137000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
33	chr7:27135200-27137000	Flanking Active TSS	Primary hematopoietic stem cells	blood
34	chr7:27135200-27137400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr7:27135200-27137600	Active TSS	Gastric	stomach
36	chr7:27135200-27138600	Active TSS	NHLF	lung
37	chr7:27135200-27139000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
38	chr7:27135200-27139200	Active TSS	Aorta	Aorta
39	chr7:27135200-27139200	Active TSS	Right Atrium	heart
40	chr7:27135400-27136800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
41	chr7:27135400-27136800	Active TSS	Primary T killer memory cells from peripheral blood	blood
42	chr7:27135400-27136800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr7:27135400-27136800	Active TSS	Fetal Adrenal Gland	Adrenal Gland
44	chr7:27135400-27136800	Active TSS	Fetal Intestine Large	intestine
45	chr7:27135400-27136800	Active TSS	Fetal Stomach	stomach
46	chr7:27135400-27137000	Active TSS	HUVEC	blood vessel
47	chr7:27135400-27137200	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
48	chr7:27135400-27137600	Active TSS	Lung	lung
49	chr7:27135400-27139000	Active TSS	Esophagus	oesophagus
50	chr7:27135600-27136800	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell

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