Variant report

Variant	rs6737596
Chromosome Location	chr2:231287336-231287337
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:231250470..231252017-chr2:231286033..231287832,2	K562	blood:
2	chr2:231286685..231287492-chr2:231475864..231476623,3	MCF-7	breast:
3	chr2:231280900..231283115-chr2:231286093..231288077,3	K562	blood:
4	chr2:231276390..231278062-chr2:231285132..231287454,2	K562	blood:
5	chr2:231280204..231284388-chr2:231286093..231293391,7	K562	blood:

Variant related genes	Relation type
ENSG00000067066	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10202501	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1074464	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10933337	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12694867	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12987948	0.96[CEU][hapmap];1.00[CHB][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12992427	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13006418	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13017690	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[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	esv18000	chr2:231072978-231467847	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:231281600-231294800	Weak transcription	Gastric	stomach
2	chr2:231281800-231293000	Weak transcription	Fetal Stomach	stomach
3	chr2:231282000-231293400	Weak transcription	Fetal Muscle Trunk	muscle
4	chr2:231282000-231294000	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr2:231282400-231288600	Weak transcription	Fetal Intestine Small	intestine
6	chr2:231282400-231292600	Weak transcription	A549	lung
7	chr2:231282600-231288600	Weak transcription	Fetal Intestine Large	intestine
8	chr2:231282600-231290000	Weak transcription	Placenta	Placenta
9	chr2:231283400-231288400	Weak transcription	HepG2	liver
10	chr2:231283600-231288600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr2:231283600-231288800	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr2:231283600-231293800	Weak transcription	Fetal Lung	lung
13	chr2:231283600-231294800	Weak transcription	HSMM	muscle
14	chr2:231283600-231309200	Weak transcription	Stomach Smooth Muscle	stomach
15	chr2:231283800-231288400	Weak transcription	K562	blood
16	chr2:231283800-231294600	Weak transcription	Fetal Heart	heart
17	chr2:231283800-231294800	Weak transcription	Esophagus	oesophagus
18	chr2:231284000-231287600	Genic enhancers	Primary monocytes fromperipheralblood	blood
19	chr2:231284200-231288400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr2:231284200-231288400	Weak transcription	Right Atrium	heart
21	chr2:231284200-231288400	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr2:231284200-231288600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr2:231284200-231288600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
24	chr2:231284200-231288600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr2:231284200-231288600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr2:231284200-231288600	Weak transcription	Ovary	ovary
27	chr2:231284200-231288600	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr2:231284200-231288600	Weak transcription	Right Ventricle	heart
29	chr2:231284200-231288800	Weak transcription	Psoas Muscle	Psoas
30	chr2:231284200-231290400	Genic enhancers	Primary B cells from peripheral blood	blood
31	chr2:231284200-231290400	Genic enhancers	Monocytes-CD14+_RO01746	blood
32	chr2:231284200-231290800	Weak transcription	Hela-S3	cervix
33	chr2:231284200-231292000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr2:231284200-231292200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr2:231284200-231292400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
36	chr2:231284200-231294800	Weak transcription	Lung	lung
37	chr2:231284200-231294800	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr2:231284200-231294800	Weak transcription	Thymus	Thymus
39	chr2:231284200-231301000	Weak transcription	Rectal Smooth Muscle	rectum
40	chr2:231284200-231304000	Weak transcription	NH-A	brain
41	chr2:231284400-231288400	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr2:231284400-231293000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr2:231284600-231287400	Enhancers	Primary T helper naive cells from peripheral blood	blood
44	chr2:231284600-231288400	Weak transcription	NHEK	skin
45	chr2:231284600-231288600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr2:231284600-231288600	Weak transcription	Duodenum Mucosa	Duodenum
47	chr2:231284600-231288600	Weak transcription	Spleen	Spleen
48	chr2:231284600-231306200	Weak transcription	HMEC	breast
49	chr2:231284800-231287400	Weak transcription	Stomach Mucosa	stomach
50	chr2:231285200-231287400	Enhancers	Brain Hippocampus Middle	brain

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