Variant report

Variant	rs638335
Chromosome Location	chr1:78527876-78527877
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:78468253..78471676-chr1:78525525..78529998,6	K562	blood:
2	chr1:78520206..78525011-chr1:78526646..78528908,4	K562	blood:
3	chr1:78484921..78487843-chr1:78526305..78528033,2	K562	blood:
4	chr1:78469696..78471554-chr1:78524530..78528737,5	K562	blood:

Variant related genes	Relation type
ENSG00000162616	Chromatin interaction
ENSG00000273338	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1001070	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1001103	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1001104	1.00[ASN][1000 genomes]
rs10437022	0.89[CHB][hapmap];0.85[JPT][hapmap]
rs11162400	0.89[CHB][hapmap];0.85[JPT][hapmap]
rs1166702	0.89[CHB][hapmap];0.85[JPT][hapmap]
rs11807240	0.89[CHB][hapmap];0.85[JPT][hapmap]
rs12405212	0.89[CHB][hapmap];0.85[JPT][hapmap]
rs12409561	0.89[CHB][hapmap]
rs1335481	0.89[CHB][hapmap];0.85[JPT][hapmap]
rs1555798	0.89[CHB][hapmap];0.85[JPT][hapmap]
rs17383213	0.89[CHB][hapmap];0.85[JPT][hapmap]
rs17387365	0.89[CHB][hapmap];0.85[JPT][hapmap]
rs1855704	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2274257	0.89[CHB][hapmap];0.85[JPT][hapmap]
rs2296453	0.89[CHB][hapmap];0.85[JPT][hapmap]
rs3767028	0.89[CHB][hapmap];0.85[JPT][hapmap]
rs4949828	0.89[CHB][hapmap];0.85[JPT][hapmap]
rs4949829	0.89[CHB][hapmap];0.85[JPT][hapmap]
rs5001389	1.00[ASN][1000 genomes]
rs504388	1.00[ASN][1000 genomes]
rs568497	0.98[ASN][1000 genomes]
rs628451	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6424660	0.85[ASN][1000 genomes]
rs6424664	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6424668	0.96[ASN][1000 genomes]
rs661038	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs662330	0.98[ASN][1000 genomes]
rs664818	1.00[ASN][1000 genomes]
rs6656888	0.89[CHB][hapmap];0.85[JPT][hapmap]
rs6677890	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs684579	1.00[ASN][1000 genomes]
rs750720	0.89[CHB][hapmap];0.85[JPT][hapmap]
rs7514007	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs9659938	0.89[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3434340	chr1:78153780-78607103	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
2	nsv1013008	chr1:78463173-78958701	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
3	nsv535012	chr1:78463173-78958701	Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
4	nsv870608	chr1:78520822-78594286	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:78515400-78534200	Weak transcription	HepG2	liver
2	chr1:78519000-78536000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr1:78521600-78534600	Weak transcription	Colonic Mucosa	Colon
4	chr1:78521800-78534600	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr1:78522200-78529800	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr1:78525400-78534400	Weak transcription	Pancreas	Pancrea
7	chr1:78525600-78534000	Weak transcription	Fetal Intestine Small	intestine
8	chr1:78526600-78528200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr1:78526600-78528200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr1:78526600-78528200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr1:78526600-78528200	Enhancers	HSMM	muscle
12	chr1:78526600-78528200	Enhancers	NHEK	skin
13	chr1:78526600-78528400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr1:78526600-78528400	Enhancers	Osteobl	bone
15	chr1:78526800-78528000	Enhancers	HMEC	breast
16	chr1:78526800-78528200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr1:78526800-78528200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr1:78526800-78528200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr1:78526800-78528200	Enhancers	HSMMtube	muscle
20	chr1:78526800-78528200	Enhancers	NHDF-Ad	bronchial
21	chr1:78526800-78528400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr1:78526800-78528600	Enhancers	Psoas Muscle	Psoas
23	chr1:78526800-78528600	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr1:78526800-78528600	Enhancers	Hela-S3	cervix
25	chr1:78527000-78528200	Enhancers	Fetal Muscle Leg	muscle
26	chr1:78527000-78528200	Enhancers	NH-A	brain
27	chr1:78527000-78528200	Enhancers	NHLF	lung
28	chr1:78527000-78528400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr1:78527400-78528000	Enhancers	Fetal Heart	heart
30	chr1:78527600-78528000	Enhancers	Stomach Mucosa	stomach
31	chr1:78527600-78528400	Enhancers	Skeletal Muscle Male	skeletal muscle
32	chr1:78527800-78528000	Weak transcription	Duodenum Mucosa	Duodenum
33	chr1:78527800-78528200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
34	chr1:78527800-78528200	Enhancers	Duodenum Smooth Muscle	Duodenum
35	chr1:78527800-78528200	Enhancers	HUVEC	blood vessel

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