Variant report

Variant	rs6587915
Chromosome Location	chr1:61790742-61790743
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	chr1:61701605..61703264-chr1:61789061..61791484,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11207730	0.83[EUR][1000 genomes]
rs12022282	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12036069	0.85[EUR][1000 genomes]
rs12036079	0.85[EUR][1000 genomes]
rs2363875	0.86[ASN][1000 genomes]
rs2363876	0.86[ASN][1000 genomes]
rs2782541	0.90[EUR][1000 genomes]
rs2782544	0.94[EUR][1000 genomes]
rs2806438	0.82[EUR][1000 genomes]
rs2806439	0.82[ASN][1000 genomes]
rs2806440	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2806441	0.97[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4439379	0.86[ASN][1000 genomes]
rs61770523	0.87[EUR][1000 genomes]
rs766489	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv994970	chr1:61693951-62199657	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv1006142	chr1:61696142-62119763	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv534980	chr1:61696142-62119763	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv916868	chr1:61700430-62119762	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv1001052	chr1:61702011-62090670	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
6	nsv817402	chr1:61703965-62119762	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers 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	6 gene(s)	inside rSNPs	diseases
7	nsv1010797	chr1:61703966-62125970	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
8	nsv530494	chr1:61723918-62084045	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
9	nsv1000294	chr1:61746280-62350718	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
10	nsv1014023	chr1:61788310-61859074	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv534981	chr1:61788310-61859074	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:61744600-61798600	Weak transcription	Fetal Muscle Trunk	muscle
2	chr1:61778400-61792800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr1:61784800-61791400	Enhancers	Fetal Lung	lung
4	chr1:61784800-61799400	Weak transcription	Left Ventricle	heart
5	chr1:61784800-61800400	Weak transcription	Ovary	ovary
6	chr1:61784800-61802800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr1:61784800-61803200	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr1:61784800-61803600	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr1:61785000-61797200	Weak transcription	HUVEC	blood vessel
10	chr1:61785000-61802400	Weak transcription	Primary hematopoietic stem cells	blood
11	chr1:61785000-61802400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr1:61785600-61791200	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr1:61786000-61813600	Weak transcription	Duodenum Mucosa	Duodenum
14	chr1:61786200-61799000	Weak transcription	Fetal Intestine Large	intestine
15	chr1:61786400-61798600	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr1:61786600-61792400	Weak transcription	Right Atrium	heart
17	chr1:61786600-61799800	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr1:61786600-61800400	Weak transcription	Brain Anterior Caudate	brain
19	chr1:61786600-61800400	Weak transcription	Colon Smooth Muscle	Colon
20	chr1:61786600-61800400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr1:61787000-61790800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr1:61788400-61792200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr1:61788400-61800600	Weak transcription	Gastric	stomach
24	chr1:61788400-61802800	Weak transcription	Placenta	Placenta
25	chr1:61789600-61791000	Enhancers	Fetal Heart	heart
26	chr1:61790000-61791200	Enhancers	Fetal Intestine Small	intestine
27	chr1:61790000-61792200	Weak transcription	Psoas Muscle	Psoas
28	chr1:61790000-61792400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr1:61790000-61795600	Weak transcription	A549	lung
30	chr1:61790000-61799000	Weak transcription	Liver	Liver
31	chr1:61790000-61799000	Weak transcription	K562	blood
32	chr1:61790000-61799800	Weak transcription	Right Ventricle	heart
33	chr1:61790000-61803600	Weak transcription	Hela-S3	cervix
34	chr1:61790000-61805400	Weak transcription	Lung	lung
35	chr1:61790200-61791000	Weak transcription	Rectal Smooth Muscle	rectum
36	chr1:61790200-61792000	Enhancers	NHEK	skin
37	chr1:61790200-61800600	Weak transcription	Pancreas	Pancrea
38	chr1:61790400-61791000	Weak transcription	Fetal Stomach	stomach
39	chr1:61790400-61798000	Weak transcription	Fetal Muscle Leg	muscle
40	chr1:61790400-61798200	Weak transcription	Aorta	Aorta
41	chr1:61790600-61791200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr1:61790600-61792200	Weak transcription	HepG2	liver
43	chr1:61790600-61795400	Weak transcription	HMEC	breast

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