Variant report

Variant	rs11161644
Chromosome Location	chr1:86092446-86092447
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:86042786..86044474-chr1:86092443..86094288,2	K562	blood:

Variant related genes	Relation type
ENSG00000153904	Chromatin interaction
ENSG00000272691	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11161640	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11161642	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11161652	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[ASN][1000 genomes]
rs11485287	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.83[ASN][1000 genomes]
rs12059858	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12067136	1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12072722	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12089357	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.86[ASN][1000 genomes]
rs12095129	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[ASN][1000 genomes]
rs12734475	0.87[EUR][1000 genomes]
rs60205048	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	esv3391173	chr1:86005637-86337469	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv1000290	chr1:86078495-86105379	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:86079200-86094400	Weak transcription	Pancreas	Pancrea
2	chr1:86083800-86095200	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr1:86083800-86103200	Weak transcription	Brain Cingulate Gyrus	brain
4	chr1:86084600-86092800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr1:86085800-86093200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr1:86087400-86094400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr1:86088200-86094400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr1:86088200-86101800	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr1:86088400-86094200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr1:86088400-86101400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr1:86088400-86102000	Weak transcription	Duodenum Mucosa	Duodenum
12	chr1:86088400-86103000	Weak transcription	Brain Hippocampus Middle	brain
13	chr1:86088600-86094400	Weak transcription	Fetal Intestine Large	intestine
14	chr1:86088600-86094400	Weak transcription	Left Ventricle	heart
15	chr1:86088600-86094800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr1:86088600-86094800	Weak transcription	Right Ventricle	heart
17	chr1:86088600-86101800	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr1:86088600-86103000	Weak transcription	NHEK	skin
19	chr1:86088800-86093000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr1:86088800-86093400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr1:86088800-86094200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr1:86088800-86094200	Weak transcription	Liver	Liver
23	chr1:86088800-86094400	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr1:86088800-86094400	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr1:86088800-86094400	Weak transcription	Fetal Muscle Leg	muscle
26	chr1:86088800-86094600	Weak transcription	Fetal Intestine Small	intestine
27	chr1:86088800-86094800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr1:86088800-86094800	Weak transcription	Esophagus	oesophagus
29	chr1:86088800-86101000	Weak transcription	Dnd41	blood
30	chr1:86088800-86101800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr1:86088800-86101800	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr1:86089200-86094200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr1:86089200-86094200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr1:86089400-86093000	Weak transcription	NHDF-Ad	bronchial
35	chr1:86089400-86093200	Weak transcription	NHLF	lung
36	chr1:86089400-86093600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr1:86089400-86094200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr1:86089400-86094400	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr1:86089400-86094400	Weak transcription	Placenta	Placenta
40	chr1:86089400-86094600	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr1:86089400-86094800	Weak transcription	Ovary	ovary
42	chr1:86089400-86102600	Weak transcription	GM12878-XiMat	blood
43	chr1:86089400-86103000	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr1:86089600-86093400	Weak transcription	NH-A	brain
45	chr1:86089600-86094000	Weak transcription	Fetal Stomach	stomach
46	chr1:86089600-86094400	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr1:86090000-86092800	Weak transcription	Primary hematopoietic stem cells	blood
48	chr1:86090000-86094800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr1:86090400-86092600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr1:86090400-86092800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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