Variant report

Variant	rs7811509
Chromosome Location	chr7:140179500-140179501
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:292)
CpG islands
(count:61)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:292 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF263	chr7:140178332-140179749	HEK293-T-REx	kidney:	n/a	chr7:140178619-140178628 chr7:140178884-140178893
2	NRF1	chr7:140177648-140179920	SK-N-SH	brain:	n/a	chr7:140179270-140179279 chr7:140179326-140179337
3	TBL1XR1	chr7:140178977-140179623	GM12878	blood:	n/a	n/a
4	MTA3	chr7:140178900-140179742	GM12878	blood:	n/a	n/a
5	POLR2A	chr7:140178127-140179866	K562	blood:	n/a	n/a
6	POU2F2	chr7:140178884-140179546	GM12878	blood:	n/a	n/a
7	MAX	chr7:140178326-140179587	K562	blood:	n/a	n/a
8	MAX	chr7:140178085-140179663	K562	blood:	n/a	n/a
9	PML	chr7:140178063-140179760	K562	blood:	n/a	n/a
10	POLR2A	chr7:140178194-140179637	GM19099	blood:	n/a	n/a
11	GABPA	chr7:140178724-140179685	A549	lung:	n/a	chr7:140179270-140179279
12	CCNT2	chr7:140178253-140179681	K562	blood:	n/a	chr7:140178308-140178317 chr7:140179392-140179401 chr7:140179235-140179244
13	CREB1	chr7:140178874-140179552	A549	lung:	n/a	n/a
14	POLR2A	chr7:140178930-140179695	SK-N-MC	brain:	n/a	n/a
15	POLR2A	chr7:140178199-140179688	Hela-S3	cervix:	n/a	n/a
16	HEY1	chr7:140178439-140179672	K562	blood:	n/a	chr7:140178797-140178812
17	POLR2A	chr7:140178912-140179614	U87	brain:	n/a	n/a
18	ZNF143	chr7:140178784-140179713	K562	blood:	n/a	chr7:140179204-140179222
19	HNF4A	chr7:140179219-140179653	HepG2	liver:	n/a	n/a
20	POLR2A	chr7:140178089-140179657	GM18505	blood:	n/a	n/a
21	TAF1	chr7:140178139-140179613	H1-hESC	embryonic stem cell:	n/a	n/a
22	MAX	chr7:140179069-140179559	A549	lung:	n/a	n/a
23	POLR2A	chr7:140178917-140179639	U87	brain:	n/a	n/a
24	NFYA	chr7:140179118-140179634	K562	blood:	n/a	chr7:140179354-140179372
25	GABPA	chr7:140178160-140179530	K562	blood:	n/a	chr7:140179270-140179279
26	TBP	chr7:140178295-140179674	H1-hESC	embryonic stem cell:	n/a	n/a
27	IRF1	chr7:140178730-140179777	K562	blood:	n/a	chr7:140178843-140178857 chr7:140179391-140179405
28	ELK1	chr7:140178966-140179528	Hela-S3	cervix:	n/a	n/a
29	JUND	chr7:140179068-140179536	H1-hESC	embryonic stem cell:	n/a	chr7:140179437-140179451
30	POLR2A	chr7:140178242-140179682	K562	blood:	n/a	n/a
31	NFYA	chr7:140179194-140179581	Hela-S3	cervix:	n/a	chr7:140179354-140179372
32	MAX	chr7:140178447-140179695	A549	lung:	n/a	n/a
33	POLR2A	chr7:140178346-140179616	GM15510	blood:	n/a	n/a
34	GATA2	chr7:140179122-140179921	SH-SY5Y	brain:	n/a	n/a
35	SP1	chr7:140179132-140179608	GM12878	blood:	n/a	chr7:140179388-140179402 chr7:140179234-140179245 chr7:140179391-140179403 chr7:140179392-140179401 chr7:140179393-140179402 chr7:140179231-140179245 chr7:140179392-140179402 chr7:140179391-140179403 chr7:140179393-140179402 chr7:140179390-140179397 chr7:140179235-140179244 chr7:140179392-140179402
36	CREB1	chr7:140178800-140179686	GM12878	blood:	n/a	n/a
37	POLR2A	chr7:140178903-140179604	HepG2	liver:	n/a	n/a
38	MAX	chr7:140178443-140179596	ECC-1	luminal epithelium:	n/a	n/a
39	POLR2A	chr7:140178234-140179646	GM18526	blood:	n/a	n/a
40	CHD2	chr7:140178182-140179755	K562	blood:	n/a	n/a
41	MYBL2	chr7:140178921-140179719	HepG2	liver:	n/a	n/a
42	POLR2A	chr7:140178496-140179690	HepG2	liver:	n/a	n/a
43	E2F6	chr7:140179177-140179503	H1-hESC	embryonic stem cell:	n/a	n/a
44	POLR2A	chr7:140178531-140179814	PBDE	blood:	n/a	n/a
45	ZC3H11A	chr7:140179036-140179765	K562	blood:	n/a	n/a
46	HEY1	chr7:140178869-140179707	HepG2	liver:	n/a	n/a
47	SIN3A	chr7:140178063-140179685	H1-hESC	embryonic stem cell:	n/a	chr7:140178849-140178860 chr7:140178737-140178750
48	EGR1	chr7:140178844-140179570	MCF-7	breast:	n/a	chr7:140178847-140178857
49	POLR2A	chr7:140178936-140179590	H1-hESC	embryonic stem cell:	n/a	n/a
50	SMARCB1	chr7:140178328-140179575	Hela-S3	cervix:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:140179466-140179516	GM06990	blood:	n/a
2	chr7:140179466-140179516	BJ	skin:	n/a
3	chr7:140179466-140179516	HMEC	breast:	n/a
4	chr7:140179466-140179516	HCM	heart:	n/a
5	chr7:140179466-140179516	AG09319	gingival:	n/a
6	chr7:140179466-140179516	AG10803	skin:	n/a
7	chr7:140179466-140179516	HepG2	liver:	n/a
8	chr7:140179466-140179516	U87	brain:	n/a
9	chr7:140179466-140179516	GM12878	blood:	n/a
10	chr7:140179466-140179516	HPAEpiC	pulmonary alveolar:	n/a
11	chr7:140179466-140179516	AG04449	skin:	fetal
12	chr7:140179466-140179516	ovcar-3	ovarian:	n/a
13	chr7:140179466-140179516	SK-N-SH	brain:	n/a
14	chr7:140179466-140179516	HL-60	blood:	n/a
15	chr7:140179466-140179516	SAEC	small airway:	n/a
16	chr7:140179466-140179516	GM12892	blood:	n/a
17	chr7:140179466-140179516	H1-hESC	embryonic stem cell:	embryo
18	chr7:140179466-140179516	SKMC	muscle:	n/a
19	chr7:140179466-140179516	RPTEC	kidney:	n/a
20	chr7:140179466-140179516	HRPEpiC	eye:	n/a
21	chr7:140179466-140179516	GM12891	blood:	n/a
22	chr7:140179466-140179516	AG09309	skin:	n/a
23	chr7:140179466-140179516	SK-N-MC	brain:	n/a
24	chr7:140179466-140179516	AG04450	lung:	fetal
25	chr7:140179466-140179516	HEEpiC	esophagus:	n/a
26	chr7:140179466-140179516	Hela-S3	cervix:	n/a
27	chr7:140179466-140179516	PrEC	prostate:	n/a
28	chr7:140179466-140179516	ECC-1	luminal epithelium:	n/a
29	chr7:140179466-140179516	HCT-116	colon:	n/a
30	chr7:140179466-140179516	Caco-2	colon:	n/a
31	chr7:140179466-140179516	T-47D	breast:	n/a
32	chr7:140179466-140179516	NH-A	brain:	n/a
33	chr7:140179466-140179516	HCF	heart:	n/a
34	chr7:140179466-140179516	GM19239	blood:	n/a
35	chr7:140179466-140179516	LNCaP	prostate:	n/a
36	chr7:140179466-140179516	MCF10A-Er-Src	breast:	n/a
37	chr7:140179466-140179516	K562	blood:	n/a
38	chr7:140179466-140179516	CMK	blood:	n/a
39	chr7:140179466-140179516	HUVEC	blood vessel:	n/a
40	chr7:140179466-140179516	HAEpiC	amniotic membrane:	n/a
41	chr7:140179466-140179516	HRCEpiC	kidney:	n/a
42	chr7:140179466-140179516	A549	lung:	n/a
43	chr7:140179466-140179516	NHBE	bronchial:	n/a
44	chr7:140179466-140179516	HRE	kidney:	n/a
45	chr7:140179466-140179516	Jurkat	blood:	n/a
46	chr7:140179466-140179516	MCF-7	breast:	n/a
47	chr7:140179466-140179516	HIPEpiC	eye:	n/a
48	chr7:140179466-140179516	IMR90	lung:	fetal
49	chr7:140179466-140179516	PANC-1	pancreas:	n/a
50	chr7:140179466-140179516	ProgFib	skin:	n/a

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:140175625..140180151-chr7:140394567..140398370,5	MCF-7	breast:
2	chr7:140176812..140180644-chr7:140393947..140398398,4	K562	blood:
3	chr7:139874986..139876906-chr7:140177718..140179514,2	MCF-7	breast:
4	chr7:139760670..139762884-chr7:140178073..140180883,2	K562	blood:
5	chr7:140152800..140155716-chr7:140177894..140179850,2	MCF-7	breast:
6	chr7:140096834..140099391-chr7:140178947..140180902,2	K562	blood:
7	chr7:140177294..140179711-chr7:140373712..140375545,2	K562	blood:
8	chr15:78730329..78731193-chr7:140178773..140179661,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
MKRN1	TF binding region
MKRN1	CpG island
ENSG00000059378	Chromatin interaction
ENSG00000133606	Chromatin interaction
ENSG00000136381	Chromatin interaction
ENSG00000133597	Chromatin interaction
ENSG00000146966	Chromatin interaction
ENSG00000240889	Chromatin interaction
ENSG00000006459	Chromatin interaction
ENSG00000090266	Chromatin interaction
ENSG00000157800	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10224232	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10243392	1.00[MEX][hapmap]
rs10243409	1.00[MEX][hapmap]
rs10256074	1.00[MEX][hapmap]
rs10257086	0.97[AFR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10265395	0.93[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10269029	1.00[MEX][hapmap]
rs13246753	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2471297	1.00[MEX][hapmap]
rs28648799	0.98[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28756184	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34139784	0.88[EUR][1000 genomes]
rs7811221	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv464734	chr7:140108096-140217670	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv608500	chr7:140108096-140217670	Genic enhancers Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	esv1803443	chr7:140146694-140263109	Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	12 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	chr7:140175600-140180000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr7:140176600-140179600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr7:140176600-140179600	Active TSS	iPS-15b Cell Line	embryonic stem cell
4	chr7:140176600-140180000	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr7:140176800-140179600	Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr7:140176800-140179600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr7:140177000-140179600	Active TSS	HUES48 Cell Line	embryonic stem cell
8	chr7:140177000-140179600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr7:140177000-140179600	Active TSS	Fetal Intestine Small	intestine
10	chr7:140177200-140180000	Active TSS	HUES64 Cell Line	embryonic stem cell
11	chr7:140177400-140179600	Active TSS	Fetal Intestine Large	intestine
12	chr7:140177400-140179600	Active TSS	HepG2	liver
13	chr7:140177400-140179800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr7:140177400-140179800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr7:140177400-140179800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr7:140177400-140179800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr7:140177400-140179800	Active TSS	Colonic Mucosa	Colon
18	chr7:140177400-140180000	Active TSS	H9 Cell Line	embryonic stem cell
19	chr7:140177600-140179600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
20	chr7:140177600-140179600	Active TSS	Duodenum Smooth Muscle	Duodenum
21	chr7:140177600-140179600	Active TSS	Fetal Kidney	kidney
22	chr7:140177600-140179600	Active TSS	Pancreas	Pancrea
23	chr7:140177600-140179600	Active TSS	Stomach Mucosa	stomach
24	chr7:140177600-140179800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr7:140177600-140179800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr7:140177600-140179800	Active TSS	Psoas Muscle	Psoas
27	chr7:140177600-140179800	Active TSS	HSMMtube	muscle
28	chr7:140177600-140180000	Active TSS	Thymus	Thymus
29	chr7:140177800-140179600	Active TSS	Primary T helper naive cells from peripheral blood	blood
30	chr7:140177800-140179600	Active TSS	Brain Angular Gyrus	brain
31	chr7:140177800-140179600	Active TSS	Brain Cingulate Gyrus	brain
32	chr7:140177800-140179600	Active TSS	Colon Smooth Muscle	Colon
33	chr7:140177800-140179600	Active TSS	Pancreatic Islets	Pancreatic Islet
34	chr7:140177800-140179600	Active TSS	Ovary	ovary
35	chr7:140177800-140179600	Active TSS	Rectal Mucosa Donor 31	rectum
36	chr7:140177800-140179600	Active TSS	NHDF-Ad	bronchial
37	chr7:140177800-140179800	Active TSS	Fetal Muscle Trunk	muscle
38	chr7:140177800-140179800	Active TSS	Placenta Amnion	Placenta Amnion
39	chr7:140177800-140180000	Active TSS	Breast Myoepithelial Primary Cells	Breast
40	chr7:140177800-140180200	Active TSS	Placenta	Placenta
41	chr7:140178000-140179600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr7:140178000-140179600	Active TSS	iPS-18 Cell Line	embryonic stem cell
43	chr7:140178000-140179600	Active TSS	Primary T cells from cord blood	blood
44	chr7:140178000-140179600	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
45	chr7:140178000-140179600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr7:140178000-140179600	Active TSS	Aorta	Aorta
47	chr7:140178000-140179600	Active TSS	Brain Inferior Temporal Lobe	brain
48	chr7:140178000-140179600	Active TSS	Duodenum Mucosa	Duodenum
49	chr7:140178000-140179600	Active TSS	Esophagus	oesophagus
50	chr7:140178000-140179600	Active TSS	Fetal Brain Female	brain

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