Variant report

Variant	rs11766743
Chromosome Location	chr7:128035895-128035896
allele	A/G
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	CTCF	chr7:128035860-128036010	GM12874	blood:	n/a	chr7:128035990-128036006 chr7:128035989-128036007
2	CTCF	chr7:128035880-128036030	K562	blood:	n/a	chr7:128035990-128036006 chr7:128035989-128036007 chr7:128035991-128036012
3	CTCF	chr7:128035880-128036030	HRPEpiC	eye:	n/a	chr7:128035990-128036006 chr7:128035989-128036007 chr7:128035991-128036012
4	CTCF	chr7:128035860-128036010	GM12872	blood:	n/a	chr7:128035990-128036006 chr7:128035989-128036007
5	RAD21	chr7:128035798-128036097	H1-hESC	embryonic stem cell:	n/a	chr7:128035990-128036009
6	CTCF	chr7:128035880-128036030	GM12867	blood:	n/a	chr7:128035990-128036006 chr7:128035989-128036007 chr7:128035991-128036012
7	CTCF	chr7:128035719-128036164	K562	blood:	n/a	chr7:128035990-128036006 chr7:128035989-128036007 chr7:128035991-128036012
8	CTCF	chr7:128035873-128036074	H1-hESC	embryonic stem cell:	n/a	chr7:128035990-128036006 chr7:128035989-128036007 chr7:128035991-128036012
9	CTCF	chr7:128035746-128036113	MCF-7	breast:	n/a	chr7:128035990-128036006 chr7:128035989-128036007 chr7:128035991-128036012
10	POLR2A	chr7:128033694-128035925	SK-N-MC	brain:	n/a	n/a
11	CTCF	chr7:128035860-128036010	AG09319	gingival:	n/a	chr7:128035990-128036006 chr7:128035989-128036007
12	CTCF	chr7:128035840-128035990	BJ	skin:	n/a	n/a
13	CTCF	chr7:128035834-128036146	K562	blood:	n/a	chr7:128035990-128036006 chr7:128035989-128036007 chr7:128035991-128036012
14	CTCF	chr7:128035889-128036034	SK-N-SH_RA	brain:	n/a	chr7:128035990-128036006 chr7:128035989-128036007 chr7:128035991-128036012
15	POLR2A	chr7:128035377-128035925	K562	blood:	n/a	n/a
16	CTCF	chr7:128035840-128035990	RPTEC	kidney:	n/a	n/a
17	CTCF	chr7:128035880-128036030	HMF	breast:	n/a	chr7:128035990-128036006 chr7:128035989-128036007 chr7:128035991-128036012
18	CTCF	chr7:128035860-128036010	HBMEC	blood vessel:	n/a	chr7:128035990-128036006 chr7:128035989-128036007
19	CTCF	chr7:128035880-128036030	NHEK	skin:	n/a	chr7:128035990-128036006 chr7:128035989-128036007 chr7:128035991-128036012
20	CTCF	chr7:128035880-128036030	HFF-Myc	foreskin:	n/a	chr7:128035990-128036006 chr7:128035989-128036007 chr7:128035991-128036012
21	CTCF	chr7:128035880-128036030	WERI-Rb-1	eye:	n/a	chr7:128035990-128036006 chr7:128035989-128036007 chr7:128035991-128036012
22	POLR2A	chr7:128035472-128036304	K562	blood:	n/a	n/a
23	POLR2A	chr7:128033718-128039206	K562	blood:	n/a	n/a
24	CTCF	chr7:128035880-128036030	GM12875	blood:	n/a	chr7:128035990-128036006 chr7:128035989-128036007 chr7:128035991-128036012
25	CTCF	chr7:128035880-128036030	SAEC	small airway:	n/a	chr7:128035990-128036006 chr7:128035989-128036007 chr7:128035991-128036012
26	CTCF	chr7:128035860-128036010	HCM	heart:	n/a	chr7:128035990-128036006 chr7:128035989-128036007
27	CTCF	chr7:128035760-128035910	HAc	cerebellar:	n/a	n/a
28	CTCF	chr7:128035880-128036030	Hela-S3	cervix:	n/a	chr7:128035990-128036006 chr7:128035989-128036007 chr7:128035991-128036012
29	CTCF	chr7:128035840-128035990	HPF	lung:	n/a	n/a
30	CTCF	chr7:128035880-128036030	BJ	skin:	n/a	chr7:128035990-128036006 chr7:128035989-128036007 chr7:128035991-128036012
31	CTCF	chr7:128035893-128036105	K562	blood:	n/a	chr7:128035990-128036006 chr7:128035989-128036007 chr7:128035991-128036012
32	CTCF	chr7:128035880-128036030	HRE	kidney:	n/a	chr7:128035990-128036006 chr7:128035989-128036007 chr7:128035991-128036012
33	CTCF	chr7:128035838-128036127	K562	blood:	n/a	chr7:128035990-128036006 chr7:128035989-128036007 chr7:128035991-128036012

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:128021304..128021927-chr7:128035468..128035977,2	K562	blood:
2	chr7:127982337..127986134-chr7:128031866..128036135,4	MCF-7	breast:

Variant related genes	Relation type
IMPDH1	TF binding region
ENSG00000106344	Chromatin interaction
ENSG00000238750	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1048531	1.00[CEU][hapmap];0.97[GIH][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.87[AMR][1000 genomes]
rs10954185	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11763326	0.92[CEU][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11764599	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11766548	0.86[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs11769087	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11769168	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];0.96[TSI][hapmap];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11769333	1.00[CHB][hapmap];0.95[CHD][hapmap];0.86[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs11771063	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11771514	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12532613	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12540060	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12540762	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];0.96[TSI][hapmap];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12540808	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.96[TSI][hapmap]
rs1864232	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2288550	1.00[CEU][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2288554	0.87[AMR][1000 genomes]
rs35501542	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3793164	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55706726	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs57124454	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57715170	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58727049	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62481099	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62481100	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62481103	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62481115	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62481116	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62481123	0.90[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62481124	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs66511422	0.86[AFR][1000 genomes];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831124	chr7:127970345-128147910	Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
2	nsv889191	chr7:127973133-128073326	Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv608400	chr7:127978820-128048194	Weak transcription Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases
4	esv2493565	chr7:127985695-128053377	Weak transcription Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
5	esv3478325	chr7:127986726-128053483	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	esv3478326	chr7:127986726-128053483	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11766743	TMEM209	cis	parietal	SCAN

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:128002400-128044400	Weak transcription	Right Atrium	heart
2	chr7:128027800-128042800	Weak transcription	Fetal Brain Male	brain
3	chr7:128028000-128045200	Weak transcription	Small Intestine	intestine
4	chr7:128028200-128036800	Weak transcription	Skeletal Muscle Female	skeletal muscle
5	chr7:128028200-128036800	Weak transcription	Dnd41	blood
6	chr7:128028200-128037000	Weak transcription	Liver	Liver
7	chr7:128028400-128044600	Weak transcription	Fetal Heart	heart
8	chr7:128028800-128037200	Weak transcription	Primary B cells from cord blood	blood
9	chr7:128029200-128037400	Weak transcription	Fetal Kidney	kidney
10	chr7:128029400-128037000	Weak transcription	HSMM	muscle
11	chr7:128029400-128037000	Weak transcription	NH-A	brain
12	chr7:128029600-128044400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr7:128029800-128037200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr7:128030000-128036000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr7:128030000-128036200	Weak transcription	HepG2	liver
16	chr7:128030000-128043800	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr7:128030200-128037000	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr7:128030200-128037200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr7:128030200-128040000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr7:128030400-128036400	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr7:128030400-128037200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr7:128030400-128037400	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr7:128030400-128038400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
24	chr7:128031000-128043800	Strong transcription	Fetal Stomach	stomach
25	chr7:128031200-128037200	Weak transcription	Hela-S3	cervix
26	chr7:128031200-128038400	Strong transcription	Primary T cells from cord blood	blood
27	chr7:128031200-128039000	Strong transcription	Thymus	Thymus
28	chr7:128031200-128043200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr7:128031200-128043200	Strong transcription	A549	lung
30	chr7:128031200-128043600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr7:128031200-128043600	Strong transcription	Lung	lung
32	chr7:128031200-128044200	Strong transcription	Spleen	Spleen
33	chr7:128031400-128041800	Strong transcription	Muscle Satellite Cultured Cells	--
34	chr7:128031400-128043200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr7:128031400-128043200	Strong transcription	Gastric	stomach
36	chr7:128031400-128043600	Strong transcription	Primary neutrophils fromperipheralblood	blood
37	chr7:128031400-128044000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr7:128031400-128044200	Strong transcription	Fetal Muscle Leg	muscle
39	chr7:128031600-128038400	Strong transcription	Fetal Muscle Trunk	muscle
40	chr7:128031600-128038600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr7:128031600-128040800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr7:128031600-128041400	Strong transcription	Stomach Smooth Muscle	stomach
43	chr7:128031600-128041600	Strong transcription	Brain Germinal Matrix	brain
44	chr7:128031600-128041800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr7:128031600-128042000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr7:128031600-128042000	Strong transcription	Right Ventricle	heart
47	chr7:128031600-128042200	Strong transcription	Fetal Brain Female	brain
48	chr7:128031600-128043200	Strong transcription	Primary T helper cells fromperipheralblood	blood
49	chr7:128031600-128043800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr7:128031600-128043800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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