Variant report

Variant	rs1149622
Chromosome Location	chr11:76515259-76515260
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:76492689..76500449-chr11:76507700..76515545,17	K562	blood:
2	chr11:76493164..76499691-chr11:76510608..76517041,14	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TSKU-1	chr11:76511408-76515599	ENSG00000261578.1

Variant related genes	Relation type
ENSG00000182704	Chromatin interaction
ENSG00000255100	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10899287	0.87[CEU][hapmap];0.91[CHB][hapmap];0.95[CHD][hapmap];0.85[GIH][hapmap];0.91[JPT][hapmap];0.88[MEX][hapmap]
rs1149616	0.87[CHB][hapmap];0.93[CHD][hapmap];0.83[JPT][hapmap]
rs1149618	0.87[CHB][hapmap];0.91[CHD][hapmap];0.83[JPT][hapmap]
rs1664081	0.87[CEU][hapmap]
rs1687692	0.87[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.90[ASN][1000 genomes]
rs1687693	0.90[ASN][1000 genomes]
rs35044108	0.91[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897931	chr11:76489673-76540708	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1149622	PAK1	cis	parietal	SCAN

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:76509800-76515600	Enhancers	Stomach Mucosa	stomach
2	chr11:76509800-76515800	Enhancers	Pancreas	Pancrea
3	chr11:76510600-76520200	Enhancers	Adipose Nuclei	Adipose
4	chr11:76510800-76515600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr11:76510800-76516000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr11:76510800-76516000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr11:76510800-76516000	Weak transcription	NHEK	skin
8	chr11:76510800-76516200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr11:76510800-76516200	Weak transcription	Left Ventricle	heart
10	chr11:76510800-76516200	Weak transcription	Placenta Amnion	Placenta Amnion
11	chr11:76510800-76517600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr11:76510800-76518000	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr11:76510800-76518200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr11:76510800-76518200	Weak transcription	Right Ventricle	heart
15	chr11:76510800-76518200	Weak transcription	NH-A	brain
16	chr11:76510800-76521200	Weak transcription	Spleen	Spleen
17	chr11:76511000-76515400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr11:76511000-76516000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr11:76511000-76516000	Weak transcription	HMEC	breast
20	chr11:76511000-76518000	Weak transcription	Brain Substantia Nigra	brain
21	chr11:76511000-76521200	Weak transcription	HUVEC	blood vessel
22	chr11:76511000-76521400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr11:76511200-76518400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr11:76511800-76517400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr11:76511800-76518200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr11:76511800-76518400	Weak transcription	Colonic Mucosa	Colon
27	chr11:76511800-76521200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr11:76512400-76518200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr11:76512400-76518200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr11:76512800-76517000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr11:76512800-76518200	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr11:76512800-76518200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr11:76512800-76518600	Enhancers	A549	lung
34	chr11:76513000-76516200	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr11:76513000-76517200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr11:76513000-76517800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr11:76513000-76518000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr11:76513000-76518200	Weak transcription	Fetal Intestine Small	intestine
39	chr11:76513000-76518600	Weak transcription	Fetal Intestine Large	intestine
40	chr11:76513400-76516800	Enhancers	Primary T cells from cord blood	blood
41	chr11:76513600-76515400	Enhancers	Fetal Lung	lung
42	chr11:76513600-76518200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr11:76513600-76520200	Enhancers	Placenta	Placenta
44	chr11:76513800-76515400	Enhancers	NHDF-Ad	bronchial
45	chr11:76513800-76516800	Enhancers	Lung	lung
46	chr11:76513800-76518600	Enhancers	Fetal Thymus	thymus
47	chr11:76514000-76518200	Weak transcription	HUES64 Cell Line	embryonic stem cell
48	chr11:76514000-76518400	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr11:76514200-76515600	Enhancers	Thymus	Thymus
50	chr11:76514200-76516000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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