Variant report

Variant	rs4756191
Chromosome Location	chr11:35134802-35134803
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:35121360..35123846-chr11:35132606..35135309,2	K562	blood:
2	chr11:35129946..35132170-chr11:35133262..35135380,2	K562	blood:
3	chr11:35132300..35135003-chr11:35146023..35147940,2	MCF-7	breast:

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1425802	0.81[CEU][hapmap];0.91[CHB][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2039619	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2042679	0.94[CEU][hapmap];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2250466	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2553810	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2553812	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2553813	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2553817	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2732568	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2732572	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2732573	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2732578	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2732579	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2785174	0.89[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2785175	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2785176	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2785178	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2785180	0.81[GIH][hapmap];0.89[EUR][1000 genomes]
rs353561	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs353563	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs353565	0.90[CEU][hapmap];0.90[GIH][hapmap];0.86[MEX][hapmap];0.90[TSI][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs353566	0.90[CEU][hapmap]
rs353571	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs353573	0.90[CEU][hapmap];0.82[MEX][hapmap];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs353574	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs353577	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs353579	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs353580	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs398734	0.90[CEU][hapmap];0.82[MEX][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs497335	0.81[EUR][1000 genomes]
rs56299057	0.84[EUR][1000 genomes]
rs61881594	0.84[EUR][1000 genomes]
rs626524	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs866292	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045837	chr11:34893992-35395190	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv540999	chr11:35021936-35185471	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	esv2758263	chr11:35029933-35226784	Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	esv2759818	chr11:35029933-35238578	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv541000	chr11:35053717-35185471	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
6	nsv541001	chr11:35053717-35224624	Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
7	esv2757437	chr11:35067482-35238578	Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' 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 target site	27 gene(s)	inside rSNPs	diseases
8	esv2752912	chr11:35074167-35238578	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers 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	27 gene(s)	inside rSNPs	diseases
9	nsv508623	chr11:35094933-35203363	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
10	nsv541002	chr11:35101282-35224624	Weak transcription Flanking Active TSS Genic enhancers Enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
11	nsv541003	chr11:35122694-35261451	Genic enhancers Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
12	nsv541004	chr11:35122694-35297414	Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:35128400-35135800	Weak transcription	Rectal Smooth Muscle	rectum
2	chr11:35131000-35139400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr11:35131600-35135000	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr11:35132600-35139600	Enhancers	Fetal Stomach	stomach
5	chr11:35132800-35135800	Weak transcription	Colon Smooth Muscle	Colon
6	chr11:35133000-35138200	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr11:35133200-35136200	Weak transcription	Dnd41	blood
8	chr11:35133200-35138200	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr11:35133200-35138400	Weak transcription	Small Intestine	intestine
10	chr11:35133400-35137000	Weak transcription	A549	lung
11	chr11:35133400-35137200	Weak transcription	Fetal Muscle Trunk	muscle
12	chr11:35133400-35137800	Weak transcription	Duodenum Mucosa	Duodenum
13	chr11:35133400-35137800	Weak transcription	Left Ventricle	heart
14	chr11:35133400-35138200	Weak transcription	Right Ventricle	heart
15	chr11:35133400-35138400	Weak transcription	Colonic Mucosa	Colon
16	chr11:35133400-35144000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr11:35133600-35135600	Weak transcription	Primary B cells from cord blood	blood
18	chr11:35133600-35137200	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr11:35133600-35137200	Weak transcription	Placenta	Placenta
20	chr11:35133600-35137200	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr11:35133600-35137200	Weak transcription	NHLF	lung
22	chr11:35133600-35138000	Weak transcription	Right Atrium	heart
23	chr11:35133600-35138200	Weak transcription	Adipose Nuclei	Adipose
24	chr11:35133600-35142200	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr11:35133800-35136400	Weak transcription	Fetal Muscle Leg	muscle
26	chr11:35133800-35138200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr11:35133800-35138200	Weak transcription	NHDF-Ad	bronchial
28	chr11:35133800-35142600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr11:35134000-35135600	Weak transcription	Primary B cells from peripheral blood	blood
30	chr11:35134000-35135800	Weak transcription	GM12878-XiMat	blood
31	chr11:35134000-35136400	Weak transcription	Esophagus	oesophagus
32	chr11:35134000-35136800	Weak transcription	Fetal Thymus	thymus
33	chr11:35134000-35137000	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr11:35134000-35137000	Weak transcription	HSMMtube	muscle
35	chr11:35134000-35137200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr11:35134000-35137800	Weak transcription	Pancreas	Pancrea
37	chr11:35134000-35137800	Weak transcription	NH-A	brain
38	chr11:35134000-35138400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr11:35134000-35138400	Weak transcription	Spleen	Spleen
40	chr11:35134000-35142400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr11:35134000-35142600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr11:35134000-35142600	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr11:35134200-35136600	Weak transcription	Gastric	stomach
44	chr11:35134200-35136600	Weak transcription	HSMM	muscle
45	chr11:35134200-35137400	Weak transcription	Osteobl	bone
46	chr11:35134600-35135200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr11:35134600-35135200	Enhancers	NHEK	skin
48	chr11:35134600-35135800	Weak transcription	Stomach Smooth Muscle	stomach
49	chr11:35134600-35137800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr11:35134600-35138000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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