Variant report

Variant	rs73238088
Chromosome Location	chr7:127702283-127702284
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:127701353..127703236-chr7:127706938..127708859,2	K562	blood:
2	chr7:127224891..127226964-chr7:127700443..127702898,2	MCF-7	breast:
3	chr7:127694685..127697419-chr7:127701664..127704398,3	K562	blood:

Variant related genes	Relation type
ENSG00000179562	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10254438	1.00[ASN][1000 genomes]
rs10269842	1.00[ASN][1000 genomes]
rs10447853	1.00[ASN][1000 genomes]
rs10447854	1.00[ASN][1000 genomes]
rs10447855	1.00[ASN][1000 genomes]
rs10487502	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12154534	1.00[ASN][1000 genomes]
rs12155421	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12532894	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12533765	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12534062	1.00[ASN][1000 genomes]
rs12534918	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12537331	1.00[ASN][1000 genomes]
rs1362898	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17151639	0.89[EUR][1000 genomes]
rs17151653	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17151668	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs17151682	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17151707	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17151739	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17679136	1.00[ASN][1000 genomes]
rs17679208	1.00[ASN][1000 genomes]
rs17732242	1.00[ASN][1000 genomes]
rs17735893	1.00[ASN][1000 genomes]
rs17735958	1.00[ASN][1000 genomes]
rs28399051	1.00[ASN][1000 genomes]
rs28541365	1.00[ASN][1000 genomes]
rs28558944	1.00[ASN][1000 genomes]
rs28566925	1.00[ASN][1000 genomes]
rs28625157	1.00[ASN][1000 genomes]
rs28692983	1.00[ASN][1000 genomes]
rs56340588	1.00[ASN][1000 genomes]
rs58489175	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs62484024	1.00[ASN][1000 genomes]
rs62484025	1.00[ASN][1000 genomes]
rs62484026	1.00[ASN][1000 genomes]
rs62484029	1.00[ASN][1000 genomes]
rs62484030	1.00[ASN][1000 genomes]
rs62484031	1.00[ASN][1000 genomes]
rs62484032	1.00[ASN][1000 genomes]
rs62484033	1.00[ASN][1000 genomes]
rs6948605	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6953231	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6962635	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6965344	1.00[ASN][1000 genomes]
rs6975863	1.00[ASN][1000 genomes]
rs73226626	1.00[ASN][1000 genomes]
rs73232939	1.00[ASN][1000 genomes]
rs73232968	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73232972	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73238078	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73239704	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73239710	1.00[ASN][1000 genomes]
rs7805021	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]

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	nsv1022385	chr7:127246656-127971194	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv539120	chr7:127246656-127971194	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv1016143	chr7:127251359-127726762	Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127669400-127726600	Weak transcription	Hela-S3	cervix
2	chr7:127669600-127718200	Weak transcription	A549	lung
3	chr7:127673200-127712000	Weak transcription	Esophagus	oesophagus
4	chr7:127673800-127703400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr7:127673800-127715400	Weak transcription	Stomach Smooth Muscle	stomach
6	chr7:127681000-127716200	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr7:127681200-127718200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr7:127681600-127714600	Weak transcription	Duodenum Smooth Muscle	Duodenum
9	chr7:127683000-127708800	Weak transcription	Duodenum Mucosa	Duodenum
10	chr7:127685000-127710400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr7:127689400-127717000	Weak transcription	Primary hematopoietic stem cells	blood
12	chr7:127692800-127703200	Weak transcription	Pancreas	Pancrea
13	chr7:127692800-127714400	Weak transcription	Right Ventricle	heart
14	chr7:127692800-127724200	Weak transcription	Right Atrium	heart
15	chr7:127693200-127718400	Weak transcription	HMEC	breast
16	chr7:127693400-127703600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr7:127693400-127706400	Weak transcription	Brain Cingulate Gyrus	brain
18	chr7:127693400-127708800	Strong transcription	Fetal Intestine Small	intestine
19	chr7:127693400-127711600	Weak transcription	Adipose Nuclei	Adipose
20	chr7:127693400-127714200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr7:127693400-127716600	Weak transcription	Colonic Mucosa	Colon
22	chr7:127693400-127717200	Weak transcription	Small Intestine	intestine
23	chr7:127693600-127710200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr7:127694200-127707000	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr7:127694400-127706400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr7:127694400-127707400	Weak transcription	Placenta	Placenta
27	chr7:127694400-127713600	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr7:127694400-127716800	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr7:127694600-127703000	Weak transcription	Gastric	stomach
30	chr7:127694600-127707200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr7:127694600-127707400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr7:127694800-127717200	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr7:127695200-127718000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
34	chr7:127696400-127704400	Weak transcription	Spleen	Spleen
35	chr7:127696400-127706800	Weak transcription	Aorta	Aorta
36	chr7:127696800-127703200	Weak transcription	Liver	Liver
37	chr7:127696800-127703600	Weak transcription	K562	blood
38	chr7:127696800-127706600	Weak transcription	Fetal Intestine Large	intestine
39	chr7:127697200-127714800	Weak transcription	HUVEC	blood vessel
40	chr7:127697600-127707000	Strong transcription	GM12878-XiMat	blood
41	chr7:127698000-127702800	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr7:127698200-127703000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr7:127698200-127713600	Weak transcription	Osteobl	bone
44	chr7:127698400-127703000	Weak transcription	HSMM	muscle
45	chr7:127698400-127714600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr7:127698600-127703000	Weak transcription	NH-A	brain
47	chr7:127698600-127703600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr7:127698800-127705400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr7:127698800-127707600	Weak transcription	HSMMtube	muscle
50	chr7:127699400-127703000	Weak transcription	Lung	lung

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links