Variant report

Variant	rs1123196
Chromosome Location	chr11:57828311-57828312
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	RCOR1	chr11:57828258-57830293	IMR90	lung:	n/a	n/a
2	CTCF	chr11:57828300-57828450	HCT-116	colon:	n/a	n/a

Variant related genes	Relation type
ENSG00000255146	TF binding region

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs1013447	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10750878	0.90[JPT][hapmap]
rs10750880	0.82[JPT][hapmap]
rs10792127	0.85[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs10792130	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10896696	0.80[CEU][hapmap];0.91[JPT][hapmap];0.82[EUR][1000 genomes]
rs11229236	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11229237	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1123306	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1123307	0.80[CEU][hapmap];0.91[JPT][hapmap];0.82[EUR][1000 genomes]
rs1374570	0.86[JPT][hapmap]
rs1545459	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1562863	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1868043	0.80[CEU][hapmap];0.91[JPT][hapmap]
rs2003375	0.80[CEU][hapmap];0.91[JPT][hapmap];0.82[EUR][1000 genomes]
rs2100110	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2167357	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2167358	0.80[CEU][hapmap];0.91[JPT][hapmap];0.82[EUR][1000 genomes]
rs2218598	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2441950	0.90[JPT][hapmap]
rs2441960	0.85[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs2441961	0.84[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs2441972	0.91[AFR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2441977	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2441979	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2443445	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2443449	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2443450	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2513705	0.85[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs2513713	0.85[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs2513726	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs2513727	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs2513728	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2513729	1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2513730	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2514181	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs2514186	0.83[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs2514187	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs2514191	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2514199	0.99[AFR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2514202	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2866830	0.95[CEU][hapmap];1.00[JPT][hapmap]
rs4939176	0.90[JPT][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7111942	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7118536	0.90[JPT][hapmap]
rs7119421	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs896300	1.00[CEU][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs921132	0.85[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs921133	0.84[CEU][hapmap];0.90[JPT][hapmap];0.80[YRI][hapmap]
rs921134	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs921135	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs971066	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs976429	0.80[CEU][hapmap];0.91[JPT][hapmap];0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs976430	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044030	chr11:57073395-58035564	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
2	nsv541047	chr11:57073395-58035564	Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
3	nsv1054205	chr11:57544264-58358509	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
4	nsv897589	chr11:57623815-58052357	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	nsv832165	chr11:57806024-58009076	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57823600-57828400	Enhancers	HepG2	liver
2	chr11:57824600-57830000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr11:57824600-57830600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr11:57824800-57830000	Enhancers	Placenta Amnion	Placenta Amnion
5	chr11:57824800-57830200	Enhancers	NHLF	lung
6	chr11:57825000-57830200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr11:57825000-57830600	Enhancers	HMEC	breast
8	chr11:57825200-57830600	Enhancers	NHEK	skin
9	chr11:57825400-57828800	Enhancers	Fetal Heart	heart
10	chr11:57825400-57830000	Enhancers	Muscle Satellite Cultured Cells	--
11	chr11:57825800-57828600	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr11:57825800-57829600	Enhancers	Fetal Intestine Large	intestine
13	chr11:57825800-57830000	Enhancers	HUES64 Cell Line	embryonic stem cell
14	chr11:57826000-57828600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr11:57826200-57829400	Enhancers	HSMM	muscle
16	chr11:57826400-57828400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr11:57826400-57829400	Weak transcription	NHDF-Ad	bronchial
18	chr11:57826400-57838000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr11:57826400-57845200	Weak transcription	Pancreas	Pancrea
20	chr11:57826600-57828400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr11:57826600-57828600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr11:57826600-57829000	Weak transcription	Osteobl	bone
23	chr11:57826600-57829200	Enhancers	HSMMtube	muscle
24	chr11:57826600-57830200	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr11:57826800-57828400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr11:57826800-57829200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr11:57827200-57829200	Enhancers	Placenta	Placenta
28	chr11:57827200-57829400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr11:57827200-57830000	Enhancers	H1 Cell Line	embryonic stem cell
30	chr11:57827200-57830200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr11:57827200-57830200	Enhancers	NH-A	brain
32	chr11:57827200-57830400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr11:57827200-57830600	Enhancers	H9 Cell Line	embryonic stem cell
34	chr11:57827400-57828600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr11:57827400-57829400	Enhancers	Fetal Intestine Small	intestine
36	chr11:57827400-57830000	Enhancers	HUES6 Cell Line	embryonic stem cell
37	chr11:57827600-57829000	Weak transcription	A549	lung
38	chr11:57827600-57829800	Weak transcription	Right Atrium	heart
39	chr11:57827600-57830000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
40	chr11:57827600-57830000	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr11:57827600-57830200	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr11:57827800-57828800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr11:57827800-57828800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr11:57828000-57828400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr11:57828200-57829400	Enhancers	Duodenum Mucosa	Duodenum

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