Variant report

Variant	rs267758
Chromosome Location	chr5:36136675-36136676
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:36123951..36126776-chr5:36136546..36138211,2	K562	blood:
2	chr5:36135642..36138520-chr5:36141636..36143714,2	K562	blood:
3	chr5:36135884..36138308-chr5:36152472..36154972,2	K562	blood:
4	chr5:36136562..36138308-chr5:36151173..36153972,2	K562	blood:
5	chr5:36133329..36138485-chr5:36146484..36151861,7	K562	blood:

Variant related genes	Relation type
ENSG00000207756	Chromatin interaction
ENSG00000145604	Chromatin interaction
ENSG00000164187	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs12513526	0.82[CEU][hapmap]
rs12655763	0.85[CEU][hapmap];0.80[EUR][1000 genomes]
rs12658867	0.82[CEU][hapmap]
rs13156321	0.85[CEU][hapmap];0.82[EUR][1000 genomes]
rs13177876	0.85[CEU][hapmap];0.81[EUR][1000 genomes]
rs144694	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs145190	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs155550	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs155551	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17342682	0.82[CEU][hapmap]
rs17343598	0.82[CEU][hapmap];0.83[GIH][hapmap]
rs173611	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1827369	0.85[CEU][hapmap]
rs1827371	0.85[CEU][hapmap]
rs198353	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2012367	0.85[CEU][hapmap]
rs2455316	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs267754	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs267764	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs267766	0.81[CEU][hapmap];0.83[GIH][hapmap]
rs267787	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs267792	0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs33615	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3913488	0.80[EUR][1000 genomes]
rs40499	0.81[EUR][1000 genomes]
rs4415106	0.82[CEU][hapmap]
rs4869614	0.82[CEU][hapmap]
rs766064	0.85[CEU][hapmap];0.81[GIH][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv32711	chr5:36047797-36146166	Weak transcription Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv830262	chr5:36074311-36293872	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	63 gene(s)	inside rSNPs	diseases
3	nsv4795	chr5:36106115-36150407	Weak transcription ZNF genes & repeats Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:36100200-36139400	Weak transcription	Gastric	stomach
2	chr5:36101200-36150800	Weak transcription	Colonic Mucosa	Colon
3	chr5:36102600-36141400	Weak transcription	Hela-S3	cervix
4	chr5:36103600-36147200	Weak transcription	HUVEC	blood vessel
5	chr5:36104800-36139400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr5:36105600-36142400	Weak transcription	NH-A	brain
7	chr5:36106200-36139800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr5:36108200-36139000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr5:36108200-36139200	Weak transcription	Esophagus	oesophagus
10	chr5:36108200-36139400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr5:36108200-36139400	Weak transcription	Aorta	Aorta
12	chr5:36108400-36139800	Weak transcription	Brain Substantia Nigra	brain
13	chr5:36108400-36150600	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr5:36108600-36139800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr5:36108600-36142800	Weak transcription	Fetal Kidney	kidney
16	chr5:36109400-36140000	Weak transcription	NHLF	lung
17	chr5:36117400-36140000	Weak transcription	Small Intestine	intestine
18	chr5:36117400-36150200	Weak transcription	Colon Smooth Muscle	Colon
19	chr5:36118200-36139800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr5:36118600-36139200	Weak transcription	Left Ventricle	heart
21	chr5:36122400-36147800	Weak transcription	NHDF-Ad	bronchial
22	chr5:36122800-36140000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr5:36122800-36140000	Weak transcription	Osteobl	bone
24	chr5:36122800-36140200	Weak transcription	Placenta	Placenta
25	chr5:36126800-36150400	Weak transcription	Fetal Heart	heart
26	chr5:36127800-36139000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr5:36128000-36139200	Weak transcription	Spleen	Spleen
28	chr5:36128000-36140000	Weak transcription	HSMM	muscle
29	chr5:36128200-36139000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr5:36128200-36150800	Weak transcription	Psoas Muscle	Psoas
31	chr5:36128800-36139000	Weak transcription	Thymus	Thymus
32	chr5:36128800-36139200	Weak transcription	Lung	lung
33	chr5:36128800-36139200	Weak transcription	Ovary	ovary
34	chr5:36128800-36139600	Weak transcription	Rectal Smooth Muscle	rectum
35	chr5:36128800-36139800	Weak transcription	Pancreas	Pancrea
36	chr5:36129000-36139000	Weak transcription	Fetal Stomach	stomach
37	chr5:36129400-36139400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr5:36129400-36149200	Weak transcription	Fetal Brain Male	brain
39	chr5:36129600-36139000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr5:36129600-36139000	Weak transcription	Brain Germinal Matrix	brain
41	chr5:36129600-36139200	Weak transcription	Duodenum Mucosa	Duodenum
42	chr5:36129800-36139000	Weak transcription	Fetal Brain Female	brain
43	chr5:36129800-36139200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr5:36129800-36139200	Weak transcription	Fetal Muscle Trunk	muscle
45	chr5:36129800-36139400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr5:36129800-36139400	Weak transcription	Brain Anterior Caudate	brain
47	chr5:36129800-36139400	Weak transcription	Fetal Lung	lung
48	chr5:36129800-36139800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr5:36129800-36139800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr5:36129800-36146600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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