Variant report

Variant	rs2041764
Chromosome Location	chr2:40570886-40570887
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	chr2:40569259..40571407-chr2:40573018..40575519,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10208527	0.90[CHB][hapmap]
rs12465380	0.90[CHB][hapmap]
rs12611602	0.82[CHB][hapmap]
rs12611608	0.90[CHB][hapmap]
rs12712691	0.82[CHB][hapmap]
rs2192774	0.80[CHB][hapmap]
rs6742210	0.90[CHB][hapmap]
rs7561383	0.96[CEU][hapmap];0.90[CHB][hapmap];0.88[MKK][hapmap];0.86[TSI][hapmap];0.87[EUR][1000 genomes]
rs7577478	0.85[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529606	chr2:40206280-40896881	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv873911	chr2:40423454-41161464	ZNF genes & repeats Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv34071	chr2:40435231-40578229	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1010508	chr2:40526981-40590777	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv535655	chr2:40526981-40590777	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	esv2757794	chr2:40547947-40733776	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	esv2759044	chr2:40547947-40733776	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	esv2536757	chr2:40569628-40571240	Enhancers Weak transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2041764	SOS1	cis	parietal	SCAN

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:40543200-40578800	Weak transcription	Primary monocytes fromperipheralblood	blood
2	chr2:40552800-40590600	Weak transcription	Fetal Kidney	kidney
3	chr2:40560000-40571400	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr2:40560200-40579000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr2:40561200-40572800	Weak transcription	Left Ventricle	heart
6	chr2:40566200-40575600	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr2:40567200-40572400	Enhancers	Fetal Heart	heart
8	chr2:40568200-40571800	Weak transcription	Right Ventricle	heart
9	chr2:40568600-40571200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr2:40568600-40575800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr2:40568800-40571000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr2:40568800-40571000	Weak transcription	Colon Smooth Muscle	Colon
13	chr2:40568800-40571000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr2:40568800-40571000	Weak transcription	NH-A	brain
15	chr2:40568800-40573200	Weak transcription	Dnd41	blood
16	chr2:40569400-40571400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr2:40569800-40571400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr2:40569800-40573600	Enhancers	Osteobl	bone
19	chr2:40570200-40575600	Enhancers	Muscle Satellite Cultured Cells	--
20	chr2:40570400-40574600	Enhancers	Rectal Smooth Muscle	rectum
21	chr2:40570400-40576800	Enhancers	NHDF-Ad	bronchial
22	chr2:40570600-40571800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr2:40570600-40572200	Enhancers	HSMM	muscle
24	chr2:40570600-40572400	Enhancers	HSMMtube	muscle
25	chr2:40570600-40574200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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