Variant report

Variant	rs538406871
Chromosome Location	chr7:27137457-27137458
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	POLR2A	chr7:27137432-27137522	HUVEC	blood vessel:	n/a	n/a
2	FOS	chr7:27137216-27137512	MCF10A-Er-Src	breast:	n/a	chr7:27137388-27137398 chr7:27137493-27137505
3	FOS	chr7:27137259-27137581	MCF10A-Er-Src	breast:	n/a	chr7:27137388-27137398 chr7:27137493-27137505
4	POLR2A	chr7:27136826-27137551	H1-neurons	neurons:	n/a	n/a
5	POLR2A	chr7:27135416-27137465	MCF10A-Er-Src	breast:	n/a	n/a
6	E2F4	chr7:27137288-27137593	MCF10A-Er-Src	breast:	n/a	n/a
7	FOS	chr7:27137204-27137567	MCF10A-Er-Src	breast:	n/a	chr7:27137388-27137398 chr7:27137493-27137505
8	POLR2A	chr7:27135166-27139184	PANC-1	pancreas:	n/a	n/a
9	POLR2A	chr7:27136687-27137501	H1-neurons	neurons:	n/a	n/a
10	MYC	chr7:27137233-27137463	MCF10A-Er-Src	breast:	n/a	n/a
11	POLR2A	chr7:27135394-27139167	MCF10A-Er-Src	breast:	n/a	n/a
12	POLR2A	chr7:27137292-27139236	PANC-1	pancreas:	n/a	n/a
13	MXI1	chr7:27135167-27138001	IMR90	lung:	n/a	n/a
14	FOS	chr7:27137211-27137586	MCF10A-Er-Src	breast:	n/a	chr7:27137388-27137398 chr7:27137493-27137505
15	ZNF263	chr7:27135473-27138390	HEK293-T-REx	kidney:	n/a	chr7:27136937-27136946
16	POLR2A	chr7:27135386-27149832	IMR90	lung:	n/a	n/a
17	RAD21	chr7:27135269-27138922	IMR90	lung:	n/a	n/a
18	CHD1	chr7:27134717-27152399	IMR90	lung:	n/a	chr7:27141647-27141657

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:27136545..27139680-chr7:27140711..27142949,3	K562	blood:
2	7:27137201-27143270..7:27162022-27164727	H1-hESC	embryonic stem cell:	embryo
3	chr7:27136703..27139680-chr7:27141228..27142949,2	K562	blood:

Variant related genes	Relation type
HOXA1	TF binding region
HOTAIRM1	TF binding region
ENSG00000253552	Chromatin interaction
ENSG00000105996	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:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:27134400-27139000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr7:27134400-27139000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr7:27134400-27139000	Active TSS	HMEC	breast
4	chr7:27134600-27137600	Active TSS	Stomach Mucosa	stomach
5	chr7:27134800-27138800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr7:27134800-27139200	Bivalent/Poised TSS	NH-A	brain
7	chr7:27134800-27140200	Active TSS	Breast Myoepithelial Primary Cells	Breast
8	chr7:27135000-27139400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
9	chr7:27135200-27137600	Active TSS	Gastric	stomach
10	chr7:27135200-27138600	Active TSS	NHLF	lung
11	chr7:27135200-27139000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
12	chr7:27135200-27139200	Active TSS	Aorta	Aorta
13	chr7:27135200-27139200	Active TSS	Right Atrium	heart
14	chr7:27135400-27137600	Active TSS	Lung	lung
15	chr7:27135400-27139000	Active TSS	Esophagus	oesophagus
16	chr7:27135600-27137600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr7:27135800-27137600	Bivalent/Poised TSS	Placenta Amnion	Placenta Amnion
18	chr7:27136000-27137800	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
19	chr7:27136200-27137800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
20	chr7:27136200-27138400	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
21	chr7:27136200-27139200	Flanking Active TSS	Adipose Nuclei	Adipose
22	chr7:27136400-27138600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
23	chr7:27136600-27138600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr7:27136600-27138800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr7:27136800-27137600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr7:27136800-27137600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr7:27136800-27137600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
28	chr7:27136800-27137800	Flanking Active TSS	Colon Smooth Muscle	Colon
29	chr7:27136800-27137800	Flanking Active TSS	A549	lung
30	chr7:27136800-27137800	Flanking Active TSS	Hela-S3	cervix
31	chr7:27136800-27137800	Flanking Active TSS	NHDF-Ad	bronchial
32	chr7:27136800-27137800	Flanking Active TSS	Osteobl	bone
33	chr7:27136800-27138000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr7:27136800-27138000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr7:27136800-27138000	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
36	chr7:27136800-27138000	Flanking Active TSS	Fetal Stomach	stomach
37	chr7:27136800-27138000	Flanking Active TSS	Rectal Smooth Muscle	rectum
38	chr7:27136800-27138400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
39	chr7:27136800-27138600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
40	chr7:27136800-27138800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
41	chr7:27136800-27139000	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
42	chr7:27136800-27139400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
43	chr7:27137000-27137600	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
44	chr7:27137000-27137600	Enhancers	HepG2	liver
45	chr7:27137000-27137800	Bivalent Enhancer	Brain Substantia Nigra	brain
46	chr7:27137000-27138200	Bivalent Enhancer	Primary mononuclear cells fromperipheralblood	Blood
47	chr7:27137000-27138200	Flanking Active TSS	Colonic Mucosa	Colon
48	chr7:27137000-27138200	Enhancers	Spleen	Spleen
49	chr7:27137000-27138600	Enhancers	Primary T killer memory cells from peripheral blood	blood
50	chr7:27137000-27138600	Flanking Active TSS	Stomach Smooth Muscle	stomach

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