Variant report

Variant	rs7780698
Chromosome Location	chr7:86835731-86835732
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	GATA3	chr7:86835363-86836243	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr7:86835662-86836369	SK-N-SH	brain:	n/a	n/a
3	WRNIP1	chr7:86835600-86835749	GM12878	blood:	n/a	n/a
4	GATA2	chr7:86835647-86836078	HUVEC	blood vessel:	n/a	chr7:86835853-86835867
5	POLR2A	chr7:86835445-86836011	SK-N-MC	brain:	n/a	n/a
6	FOSL2	chr7:86835652-86836192	SK-N-SH	brain:	n/a	n/a
7	POLR2A	chr7:86835498-86835896	GM12878	blood:	n/a	n/a
8	POLR2A	chr7:86835293-86835868	GM12892	blood:	n/a	n/a
9	POLR2A	chr7:86835675-86836541	HepG2	liver:	n/a	n/a
10	POLR2A	chr7:86835475-86836002	GM12891	blood:	n/a	n/a
11	JUND	chr7:86835551-86836477	SK-N-SH	brain:	n/a	n/a
12	POLR2A	chr7:86835594-86835783	SK-N-SH	brain:	n/a	n/a
13	GATA3	chr7:86835490-86836215	SK-N-SH	brain:	n/a	n/a
14	SETDB1	chr7:86833818-86836465	K562	blood:	n/a	chr7:86835729-86835753
15	POLR2A	chr7:86835433-86836685	GM12892	blood:	n/a	n/a
16	POLR2A	chr7:86835522-86835781	ECC-1	luminal epithelium:	n/a	n/a
17	POLR2A	chr7:86835175-86835733	GM12878	blood:	n/a	n/a
18	FOS	chr7:86835720-86836098	HUVEC	blood vessel:	n/a	chr7:86835913-86835924
19	TCF12	chr7:86835518-86836198	SK-N-SH	brain:	n/a	n/a
20	POLR2A	chr7:86835553-86835859	H1-neurons	neurons:	n/a	n/a
21	POLR2A	chr7:86835336-86836527	GM12892	blood:	n/a	n/a
22	EP300	chr7:86835676-86835997	SK-N-SH_RA	brain:	n/a	n/a
23	POLR2A	chr7:86835452-86835801	GM12892	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:86835662..86838020-chr7:86838846..86841244,3	K562	blood:
2	chr7:86567664..86570566-chr7:86835025..86837514,2	K562	blood:

Variant related genes	Relation type
TMEM243	TF binding region

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10085726	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10228392	1.00[CEU][hapmap];0.91[CHB][hapmap];0.96[JPT][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10231010	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10238917	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10244350	0.90[CEU][hapmap]
rs1024457	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs10257953	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10273853	0.90[CEU][hapmap]
rs10952896	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs1859124	0.80[CEU][hapmap]
rs2057984	1.00[CEU][hapmap];0.95[CHB][hapmap];0.83[JPT][hapmap];0.94[EUR][1000 genomes]
rs2074757	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2108271	1.00[CEU][hapmap];0.91[CHB][hapmap];0.96[JPT][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2108272	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2190424	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2286268	1.00[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2373387	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs2373388	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs3747807	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3789251	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3789252	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4140847	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4400318	0.96[EUR][1000 genomes]
rs4639442	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4727146	0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4728686	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4728689	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs6465093	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs6465101	0.96[EUR][1000 genomes]
rs6952384	0.96[EUR][1000 genomes]
rs6959152	0.81[CEU][hapmap]
rs6968640	0.91[CEU][hapmap]
rs6975202	0.96[EUR][1000 genomes]
rs757961	1.00[CEU][hapmap];0.95[CHB][hapmap];0.96[JPT][hapmap];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs765968	0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7810647	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs886787	1.00[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025277	chr7:86299224-87206007	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv538999	chr7:86299224-87206007	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
3	nsv532147	chr7:86299225-87121975	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
4	nsv1016761	chr7:86758544-86914152	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
5	nsv888676	chr7:86781423-86858824	Active TSS Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
6	nsv1026193	chr7:86790391-86856448	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
7	nsv539003	chr7:86790391-86856448	Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Active TSS 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	14 gene(s)	inside rSNPs	diseases
8	nsv888677	chr7:86802025-87781111	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
9	nsv464622	chr7:86832603-87541248	Weak transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
10	nsv607725	chr7:86832603-87541248	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
11	nsv511977	chr7:86834623-86837232	Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Enhancers	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:86821000-86847400	Weak transcription	Stomach Mucosa	stomach
2	chr7:86822200-86841800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr7:86825000-86840000	Weak transcription	Ovary	ovary
4	chr7:86825600-86847400	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr7:86825800-86843600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr7:86826800-86846000	Weak transcription	Fetal Kidney	kidney
7	chr7:86826800-86848200	Weak transcription	Left Ventricle	heart
8	chr7:86828400-86848200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr7:86829000-86837600	Weak transcription	Fetal Heart	heart
10	chr7:86829800-86848000	Weak transcription	Right Ventricle	heart
11	chr7:86830000-86839800	Weak transcription	HSMMtube	muscle
12	chr7:86831000-86847200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr7:86831400-86836600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr7:86831600-86838400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr7:86831800-86838800	ZNF genes & repeats	GM12878-XiMat	blood
16	chr7:86832000-86838000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
17	chr7:86832000-86843400	Weak transcription	NHLF	lung
18	chr7:86832200-86836000	Weak transcription	NH-A	brain
19	chr7:86832200-86840600	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr7:86832200-86843200	Weak transcription	Osteobl	bone
21	chr7:86832200-86846000	Weak transcription	HSMM	muscle
22	chr7:86832400-86836400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr7:86832400-86841000	Weak transcription	Small Intestine	intestine
24	chr7:86832400-86845600	Weak transcription	Pancreas	Pancrea
25	chr7:86832400-86847200	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr7:86833000-86836200	ZNF genes & repeats	Primary B cells from peripheral blood	blood
27	chr7:86833000-86836400	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
28	chr7:86833000-86836600	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
29	chr7:86833200-86835800	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
30	chr7:86833200-86836400	ZNF genes & repeats	Duodenum Mucosa	Duodenum
31	chr7:86833200-86836600	ZNF genes & repeats	ES-UCSF4 Cell Line	embryonic stem cell
32	chr7:86833400-86835800	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
33	chr7:86833400-86836000	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr7:86833400-86837200	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
35	chr7:86833600-86836000	ZNF genes & repeats	Fetal Intestine Large	intestine
36	chr7:86833600-86836600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr7:86833800-86836200	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
38	chr7:86833800-86836400	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr7:86833800-86836400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr7:86833800-86836400	ZNF genes & repeats	Thymus	Thymus
41	chr7:86833800-86841200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr7:86834000-86835800	ZNF genes & repeats	Primary T helper memory cells from peripheral blood 1	blood
43	chr7:86834000-86836000	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
44	chr7:86834000-86836000	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
45	chr7:86834000-86836000	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
46	chr7:86834000-86836000	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
47	chr7:86834000-86836600	ZNF genes & repeats	HepG2	liver
48	chr7:86834000-86837200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
49	chr7:86834000-86837200	ZNF genes & repeats	Dnd41	blood
50	chr7:86834000-86838400	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin

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