Variant report

Variant	rs1432117
Chromosome Location	chr11:8988550-8988551
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:8703166..8704942-chr11:8987139..8989652,2	K562	blood:
2	chr11:8985678..8987470-chr11:8987575..8989239,2	K562	blood:

Variant related genes	Relation type
ENSG00000175348	Chromatin interaction
ENSG00000254860	Chromatin interaction
ENSG00000166441	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10400349	0.95[ASN][1000 genomes]
rs10743099	0.88[JPT][hapmap]
rs11042113	1.00[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs12574321	1.00[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12574447	0.84[ASN][1000 genomes]
rs1432118	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2116513	1.00[CHB][hapmap];0.91[CHD][hapmap];1.00[JPT][hapmap]
rs2163627	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2436176	1.00[YRI][hapmap]
rs2568022	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2568073	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2568076	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2568084	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2653572	1.00[ASW][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2653599	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs2653617	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap]
rs2742481	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2742490	0.81[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs2742492	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs2742506	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2742509	0.88[ASN][1000 genomes]
rs2742522	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs4910179	0.86[ASN][1000 genomes]
rs56947653	0.84[ASN][1000 genomes]
rs7108116	0.88[JPT][hapmap]
rs7125458	0.92[CHD][hapmap];0.86[JPT][hapmap]
rs891787	1.00[ASW][hapmap];0.88[YRI][hapmap]

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	esv2758256	chr11:8784813-9009573	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	esv2759803	chr11:8784813-9009573	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv435923	chr11:8839325-9000602	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv832062	chr11:8849295-9009472	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
5	esv3413845	chr11:8887279-9285127	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
6	nsv896984	chr11:8988550-9090408	Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8986800-8993600	Weak transcription	Aorta	Aorta
2	chr11:8986800-8994400	Weak transcription	Ovary	ovary
3	chr11:8986800-8995000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr11:8986800-8996600	Weak transcription	Spleen	Spleen
5	chr11:8987000-8988600	Enhancers	K562	blood
6	chr11:8987000-8988800	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr11:8987000-8988800	Enhancers	Brain Anterior Caudate	brain
8	chr11:8987000-8988800	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr11:8987000-8988800	Weak transcription	Fetal Stomach	stomach
10	chr11:8987000-8989000	Weak transcription	Placenta	Placenta
11	chr11:8987000-8989200	Weak transcription	Primary T cells from cord blood	blood
12	chr11:8987000-8989600	Enhancers	GM12878-XiMat	blood
13	chr11:8987000-8989800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr11:8987000-8990000	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr11:8987000-8990000	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr11:8987000-8990000	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr11:8987000-8990000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr11:8987000-8990000	Weak transcription	Adipose Nuclei	Adipose
19	chr11:8987000-8990800	Weak transcription	Rectal Smooth Muscle	rectum
20	chr11:8987000-8990800	Weak transcription	Thymus	Thymus
21	chr11:8987000-8991000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr11:8987000-8991200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr11:8987000-8991600	Weak transcription	Lung	lung
24	chr11:8987000-8992400	Weak transcription	Esophagus	oesophagus
25	chr11:8987000-8993600	Weak transcription	Left Ventricle	heart
26	chr11:8987000-8994200	Weak transcription	Psoas Muscle	Psoas
27	chr11:8987000-8994800	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr11:8987000-8995000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr11:8987000-9007200	Weak transcription	Brain Germinal Matrix	brain
30	chr11:8987000-9007200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr11:8987000-9010200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr11:8987000-9011000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
33	chr11:8987200-8988600	Weak transcription	Fetal Intestine Small	intestine
34	chr11:8987200-8988800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr11:8987200-8990200	Weak transcription	Duodenum Mucosa	Duodenum
36	chr11:8987200-8991400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr11:8987200-8993800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr11:8987400-8988800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr11:8987400-8988800	Weak transcription	Fetal Muscle Trunk	muscle
40	chr11:8987400-8992800	Weak transcription	Primary B cells from cord blood	blood
41	chr11:8987600-8988800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr11:8987600-8990400	Weak transcription	Fetal Intestine Large	intestine
43	chr11:8987600-8990400	Weak transcription	A549	lung
44	chr11:8987600-8992000	Weak transcription	Fetal Kidney	kidney
45	chr11:8987600-8992200	Weak transcription	Brain Hippocampus Middle	brain
46	chr11:8987600-8993400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr11:8987600-9005000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr11:8987600-9006400	Weak transcription	Colon Smooth Muscle	Colon
49	chr11:8987600-9010000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr11:8987600-9010000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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