Variant report

Variant	rs10230127
Chromosome Location	chr7:111500936-111500937
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	chr7:111488939..111490712-chr7:111499530..111501378,2	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10085411	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10085418	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10236850	0.82[EUR][1000 genomes]
rs10249065	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10255299	0.87[EUR][1000 genomes]
rs10269918	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10277083	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs59559298	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6971767	0.85[EUR][1000 genomes]
rs9918593	0.89[ASN][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	nsv608196	chr7:111073710-111794368	Enhancers Strong transcription Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers 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	27 gene(s)	inside rSNPs	diseases
2	nsv608215	chr7:111183610-111533520	Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv1021527	chr7:111194596-111851619	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv539086	chr7:111194596-111851619	Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
5	nsv1028740	chr7:111227747-111679401	Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv1015267	chr7:111303294-111714771	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv539087	chr7:111303294-111714771	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv539088	chr7:111333899-111722341	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	nsv531435	chr7:111333900-111926292	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
10	nsv491934	chr7:111333900-111975504	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
11	nsv532335	chr7:111411990-112054905	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:111461800-111505200	Weak transcription	Aorta	Aorta
2	chr7:111477000-111527600	Weak transcription	A549	lung
3	chr7:111477200-111507000	Weak transcription	Psoas Muscle	Psoas
4	chr7:111481000-111554000	Weak transcription	Placenta	Placenta
5	chr7:111482400-111504400	Weak transcription	Osteobl	bone
6	chr7:111483000-111513000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr7:111484400-111514200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr7:111487000-111507000	Weak transcription	Colon Smooth Muscle	Colon
9	chr7:111487000-111513400	Weak transcription	Fetal Brain Male	brain
10	chr7:111487200-111506800	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr7:111487200-111537600	Weak transcription	HepG2	liver
12	chr7:111493200-111513400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr7:111493600-111505200	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr7:111493600-111512800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr7:111495400-111509600	Weak transcription	Hela-S3	cervix
16	chr7:111495400-111513800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr7:111495800-111510600	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr7:111495800-111512800	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr7:111495800-111512800	Weak transcription	Brain Angular Gyrus	brain
20	chr7:111495800-111514200	Weak transcription	Gastric	stomach
21	chr7:111495800-111519000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr7:111495800-111519200	Weak transcription	Fetal Intestine Small	intestine
23	chr7:111496000-111513000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr7:111496200-111513000	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr7:111496200-111513000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr7:111496200-111513400	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr7:111496600-111502000	Weak transcription	Fetal Heart	heart
28	chr7:111496600-111512800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr7:111496800-111513000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr7:111497800-111504200	Strong transcription	Liver	Liver
31	chr7:111497800-111512200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr7:111498200-111503800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr7:111498400-111501600	Weak transcription	NHDF-Ad	bronchial
34	chr7:111498400-111502400	Strong transcription	Fetal Lung	lung
35	chr7:111498600-111504400	Weak transcription	NHLF	lung
36	chr7:111498600-111514200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr7:111498800-111503600	Weak transcription	Spleen	Spleen
38	chr7:111499200-111501000	Strong transcription	Brain Germinal Matrix	brain
39	chr7:111499200-111501200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr7:111499400-111505400	Strong transcription	HUVEC	blood vessel
41	chr7:111499800-111503800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr7:111500000-111501000	Strong transcription	Cortex derived primary cultured neurospheres	brain
43	chr7:111500000-111501000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr7:111500000-111501000	Strong transcription	Fetal Brain Female	brain
45	chr7:111500000-111501000	Strong transcription	Ovary	ovary
46	chr7:111500000-111501200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr7:111500000-111501200	Strong transcription	Brain Cingulate Gyrus	brain
48	chr7:111500000-111501200	Strong transcription	Duodenum Smooth Muscle	Duodenum
49	chr7:111500000-111501200	Strong transcription	Fetal Muscle Trunk	muscle
50	chr7:111500000-111501400	Enhancers	Fetal Thymus	thymus

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links