Variant report

Variant	rs11231655
Chromosome Location	chr11:63719202-63719203
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	MAZ	chr11:63719167-63719754	GM12878	blood:	n/a	n/a
2	EBF1	chr11:63719114-63719688	GM12878	blood:	n/a	chr11:63719271-63719284 chr11:63719271-63719282 chr11:63719273-63719282
3	WRNIP1	chr11:63719201-63719845	GM12878	blood:	n/a	n/a
4	RUNX3	chr11:63719093-63720159	GM12878	blood:	n/a	n/a
5	EBF1	chr11:63719106-63719604	GM12878	blood:	n/a	chr11:63719271-63719284 chr11:63719271-63719282 chr11:63719273-63719282
6	EBF1	chr11:63719082-63719820	GM12878	blood:	n/a	chr11:63719271-63719284 chr11:63719271-63719282 chr11:63719273-63719282
7	CEBPB	chr11:63719201-63719807	GM12878	blood:	n/a	n/a
8	MTA3	chr11:63719064-63720483	GM12878	blood:	n/a	n/a
9	NFATC1	chr11:63719169-63720091	GM12878	blood:	n/a	n/a
10	POLR2A	chr11:63719113-63719213	K562	blood:	n/a	n/a
11	RUNX3	chr11:63719000-63720218	GM12878	blood:	n/a	n/a
12	NFIC	chr11:63719121-63720128	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
NAA40	TF binding region

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:60)

rs_ID	r²[population]
rs10897459	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10897464	0.82[EUR][1000 genomes]
rs10897465	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10897466	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs10897467	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10897469	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10897470	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11231643	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs11231646	0.89[EUR][1000 genomes]
rs11231653	0.83[EUR][1000 genomes]
rs11231662	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11231663	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11231664	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11231670	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11231671	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11600062	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11601228	0.80[EUR][1000 genomes]
rs11605797	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11607028	0.82[EUR][1000 genomes]
rs12417157	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12417507	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12418000	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12421757	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12786124	0.86[AMR][1000 genomes]
rs12793201	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12794404	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12797540	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12798491	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12800703	1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1386346	0.80[EUR][1000 genomes]
rs2129467	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs224173	0.90[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2318110	0.86[EUR][1000 genomes]
rs3019785	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs34134698	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34595065	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3740636	0.82[EUR][1000 genomes]
rs3740637	1.00[CHB][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3802940	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs479975	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs492357	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4980499	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4980500	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4980501	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4980509	0.87[EUR][1000 genomes]
rs4980512	0.82[EUR][1000 genomes]
rs4980517	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4980530	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs501278	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs504060	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs509701	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs579669	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs581355	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs67136175	0.84[EUR][1000 genomes]
rs7112348	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs728919	0.82[EUR][1000 genomes]
rs7926608	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7936614	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7950543	0.81[AFR][1000 genomes]
rs7951529	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051171	chr11:62987064-63835715	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
2	nsv468590	chr11:63639881-63783352	Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv555181	chr11:63639881-63783352	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv897629	chr11:63664882-63866959	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv897630	chr11:63664882-63924446	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
6	nsv897631	chr11:63664882-64129722	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	254 gene(s)	inside rSNPs	diseases
7	nsv897639	chr11:63691049-63844683	Bivalent Enhancer Active TSS Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Weak transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 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	chr11:63707200-63724200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr11:63707400-63719600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr11:63707400-63721400	Weak transcription	Small Intestine	intestine
4	chr11:63707600-63719400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr11:63707600-63720200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr11:63707800-63719600	Weak transcription	Lung	lung
7	chr11:63708200-63723400	Weak transcription	NH-A	brain
8	chr11:63709600-63719600	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr11:63713200-63719800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr11:63713200-63719800	Weak transcription	Aorta	Aorta
11	chr11:63713200-63725400	Weak transcription	Psoas Muscle	Psoas
12	chr11:63713200-63725800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr11:63713400-63719400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr11:63713400-63719600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr11:63713400-63719600	Weak transcription	Brain Cingulate Gyrus	brain
16	chr11:63713400-63719800	Weak transcription	Brain Substantia Nigra	brain
17	chr11:63713400-63721200	Weak transcription	Stomach Mucosa	stomach
18	chr11:63713400-63721600	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr11:63713400-63721600	Weak transcription	Ovary	ovary
20	chr11:63713400-63724200	Strong transcription	K562	blood
21	chr11:63713400-63725200	Strong transcription	Fetal Intestine Small	intestine
22	chr11:63713400-63725400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr11:63713400-63725800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr11:63713400-63726200	Strong transcription	Fetal Stomach	stomach
25	chr11:63713400-63726800	Weak transcription	Fetal Brain Male	brain
26	chr11:63713400-63733800	Weak transcription	Right Atrium	heart
27	chr11:63713600-63719600	Weak transcription	Colonic Mucosa	Colon
28	chr11:63713600-63719600	Strong transcription	Duodenum Mucosa	Duodenum
29	chr11:63713600-63719800	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr11:63713600-63719800	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr11:63713600-63719800	Weak transcription	HSMM	muscle
32	chr11:63713600-63723000	Weak transcription	Fetal Heart	heart
33	chr11:63713600-63724200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
34	chr11:63713600-63724200	Strong transcription	Cortex derived primary cultured neurospheres	brain
35	chr11:63713600-63724400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr11:63713600-63725200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr11:63713600-63726000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr11:63713800-63719400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr11:63713800-63724400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr11:63713800-63726000	Strong transcription	Fetal Muscle Leg	muscle
41	chr11:63714000-63726200	Strong transcription	Fetal Muscle Trunk	muscle
42	chr11:63714200-63719600	Weak transcription	Right Ventricle	heart
43	chr11:63714400-63719800	Weak transcription	Stomach Smooth Muscle	stomach
44	chr11:63714400-63720000	Weak transcription	NHDF-Ad	bronchial
45	chr11:63714600-63719400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr11:63714600-63719400	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr11:63714600-63719400	Weak transcription	HepG2	liver
48	chr11:63714600-63719400	Weak transcription	NHLF	lung
49	chr11:63714600-63719600	Weak transcription	Brain Angular Gyrus	brain
50	chr11:63714600-63719600	Weak transcription	Brain Anterior Caudate	brain

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