Variant report

Variant	rs11238297
Chromosome Location	chr7:50788945-50788946
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:50787237..50792773-chr7:50859512..50862102,5	K562	blood:
2	chr7:50785108..50787997-chr7:50788315..50791487,3	K562	blood:

Variant related genes	Relation type
ENSG00000106070	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1019000	0.83[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1024531	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10265504	1.00[ASN][1000 genomes]
rs11763072	0.82[ASN][1000 genomes]
rs11763778	0.82[ASN][1000 genomes]
rs11765762	0.82[ASN][1000 genomes]
rs12668316	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs13311390	0.82[ASN][1000 genomes]
rs2058014	0.82[ASN][1000 genomes]
rs2074777	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2108349	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2190502	0.82[ASN][1000 genomes]
rs2214963	0.82[ASN][1000 genomes]
rs2299153	0.82[ASN][1000 genomes]
rs2329489	0.82[ASN][1000 genomes]
rs3801000	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4521715	0.82[ASN][1000 genomes]
rs4947806	0.82[ASN][1000 genomes]
rs6943153	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6967612	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7780348	0.95[AFR][1000 genomes]
rs7793570	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7809623	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7809775	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs933360	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016665	chr7:50452552-51404524	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1031138	chr7:50651793-50814881	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50742600-50792000	Weak transcription	Primary T cells from cord blood	blood
2	chr7:50763400-50806800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr7:50772000-50791600	Weak transcription	K562	blood
4	chr7:50773000-50789200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr7:50773000-50807400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr7:50774800-50789200	Weak transcription	NHLF	lung
7	chr7:50777600-50792600	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr7:50778400-50789000	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr7:50780600-50795000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr7:50780600-50807600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr7:50780800-50801400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr7:50781000-50794800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr7:50781200-50789200	Weak transcription	Colonic Mucosa	Colon
14	chr7:50781200-50791200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr7:50781200-50795600	Weak transcription	NHDF-Ad	bronchial
16	chr7:50781200-50797600	Weak transcription	HSMMtube	muscle
17	chr7:50781200-50798200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr7:50781400-50789400	Weak transcription	Ovary	ovary
19	chr7:50781800-50789000	Weak transcription	Esophagus	oesophagus
20	chr7:50781800-50789400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr7:50783000-50789400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr7:50783000-50792000	Weak transcription	HSMM	muscle
23	chr7:50783200-50791000	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr7:50783400-50789000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr7:50783400-50789400	Weak transcription	Placenta	Placenta
26	chr7:50783600-50790200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr7:50783800-50790600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr7:50783800-50798200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr7:50783800-50798400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr7:50784000-50789400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr7:50784000-50789600	Weak transcription	Aorta	Aorta
32	chr7:50784000-50799400	Weak transcription	Hela-S3	cervix
33	chr7:50784600-50789000	Weak transcription	Fetal Muscle Trunk	muscle
34	chr7:50784600-50789200	Weak transcription	Fetal Muscle Leg	muscle
35	chr7:50784600-50791000	Enhancers	Primary hematopoietic stem cells short term culture	blood
36	chr7:50785400-50789600	Enhancers	Brain Anterior Caudate	brain
37	chr7:50785800-50789200	Weak transcription	Adipose Nuclei	Adipose
38	chr7:50785800-50790400	Enhancers	Fetal Lung	lung
39	chr7:50786000-50790400	Enhancers	HUVEC	blood vessel
40	chr7:50786200-50789800	Enhancers	Colon Smooth Muscle	Colon
41	chr7:50786600-50789000	Weak transcription	Right Ventricle	heart
42	chr7:50786600-50789400	Enhancers	A549	lung
43	chr7:50786600-50790600	Enhancers	Liver	Liver
44	chr7:50786800-50789200	Weak transcription	Right Atrium	heart
45	chr7:50786800-50789600	Weak transcription	Primary hematopoietic stem cells	blood
46	chr7:50786800-50790600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr7:50786800-50795400	Weak transcription	Fetal Kidney	kidney
48	chr7:50787000-50789000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr7:50787000-50789000	Weak transcription	Brain Substantia Nigra	brain
50	chr7:50787000-50789200	Weak transcription	Brain Angular Gyrus	brain

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