Variant report

Variant	rs10231951
Chromosome Location	chr7:17838817-17838818
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:17837121..17839651-chr7:17841866..17844504,2	K562	blood:

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10228026	1.00[AMR][1000 genomes]
rs10228344	1.00[AMR][1000 genomes]
rs10229223	1.00[AMR][1000 genomes]
rs10229298	1.00[AMR][1000 genomes]
rs10230274	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10230644	1.00[AMR][1000 genomes]
rs10231226	1.00[AMR][1000 genomes]
rs10232014	1.00[AMR][1000 genomes]
rs10232030	1.00[AMR][1000 genomes]
rs10234457	1.00[AMR][1000 genomes]
rs10237285	1.00[AMR][1000 genomes]
rs10238514	1.00[AMR][1000 genomes]
rs10242619	1.00[AMR][1000 genomes]
rs10242951	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10244018	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10247149	0.91[AFR][1000 genomes]
rs10252592	1.00[AMR][1000 genomes]
rs10255868	0.95[AFR][1000 genomes]
rs10259891	0.98[AFR][1000 genomes]
rs10268362	1.00[AMR][1000 genomes]
rs10270181	1.00[AMR][1000 genomes]
rs10270757	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10274155	1.00[AMR][1000 genomes]
rs10274669	1.00[AMR][1000 genomes]
rs10274868	1.00[AMR][1000 genomes]
rs10278523	1.00[AMR][1000 genomes]
rs10280913	1.00[AMR][1000 genomes]
rs10282571	1.00[AMR][1000 genomes]
rs11975603	1.00[AMR][1000 genomes]
rs11976744	0.88[AFR][1000 genomes]
rs11978117	1.00[AMR][1000 genomes]
rs17138308	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17138311	1.00[AMR][1000 genomes]
rs17138437	1.00[AMR][1000 genomes]
rs17138450	1.00[AMR][1000 genomes]
rs28476778	1.00[AMR][1000 genomes]
rs28566938	1.00[AMR][1000 genomes]
rs28663676	1.00[AMR][1000 genomes]
rs28862893	1.00[AMR][1000 genomes]
rs59568611	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60138005	1.00[AMR][1000 genomes]
rs73308132	0.93[AFR][1000 genomes]
rs73308167	1.00[AMR][1000 genomes]
rs73308173	1.00[AMR][1000 genomes]
rs73308184	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73310107	1.00[AMR][1000 genomes]
rs73310176	1.00[AMR][1000 genomes]
rs73310185	1.00[AMR][1000 genomes]
rs73310190	1.00[AMR][1000 genomes]
rs73312112	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869352	chr7:17237983-17932878	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv1021524	chr7:17251148-17963307	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1021289	chr7:17254117-17873816	Weak transcription ZNF genes & repeats Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv538754	chr7:17254117-17873816	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv534309	chr7:17254118-17932878	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv533938	chr7:17254118-18040301	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	nsv887804	chr7:17571140-17885468	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv1024398	chr7:17630148-18545073	Strong transcription Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
9	nsv538764	chr7:17630148-18545073	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
10	esv1802979	chr7:17816528-17908546	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:17812400-17846200	Weak transcription	Fetal Stomach	stomach
2	chr7:17812400-17852200	Weak transcription	Esophagus	oesophagus
3	chr7:17812600-17887600	Weak transcription	Gastric	stomach
4	chr7:17813600-17879200	Weak transcription	HSMMtube	muscle
5	chr7:17817400-17887600	Weak transcription	Pancreas	Pancrea
6	chr7:17821800-17847000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr7:17822000-17846200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr7:17822000-17852600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr7:17822200-17845600	Weak transcription	NHLF	lung
10	chr7:17823000-17846200	Weak transcription	Fetal Intestine Small	intestine
11	chr7:17823200-17854400	Weak transcription	Lung	lung
12	chr7:17823600-17887600	Weak transcription	Brain Cingulate Gyrus	brain
13	chr7:17824000-17841000	Weak transcription	NHEK	skin
14	chr7:17824800-17861800	Weak transcription	Fetal Heart	heart
15	chr7:17825800-17887600	Weak transcription	Colonic Mucosa	Colon
16	chr7:17826000-17847000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr7:17826400-17846400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr7:17826400-17852400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr7:17826400-17853200	Weak transcription	Aorta	Aorta
20	chr7:17826400-17864000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr7:17827400-17877600	Weak transcription	Small Intestine	intestine
22	chr7:17828600-17844000	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr7:17828800-17847800	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr7:17829600-17843800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr7:17831000-17843400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr7:17831600-17842200	Weak transcription	A549	lung
27	chr7:17831800-17840600	Weak transcription	HepG2	liver
28	chr7:17832000-17843400	Strong transcription	Primary neutrophils fromperipheralblood	blood
29	chr7:17832000-17846400	Weak transcription	K562	blood
30	chr7:17832000-17849000	Weak transcription	Fetal Brain Female	brain
31	chr7:17832000-17862600	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr7:17832000-17880600	Weak transcription	GM12878-XiMat	blood
33	chr7:17832200-17846200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr7:17832400-17846200	Weak transcription	Spleen	Spleen
35	chr7:17832400-17846400	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr7:17832600-17846200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr7:17832800-17843400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr7:17833000-17843400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr7:17833000-17843600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr7:17833200-17839000	Strong transcription	Adipose Nuclei	Adipose
41	chr7:17833200-17842000	Strong transcription	Liver	Liver
42	chr7:17833200-17843400	Strong transcription	Primary T helper cells PMA-I stimulated	--
43	chr7:17833200-17843600	Strong transcription	Primary T helper cells fromperipheralblood	blood
44	chr7:17833400-17843600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr7:17833400-17845600	Weak transcription	Brain Angular Gyrus	brain
46	chr7:17834000-17840000	Weak transcription	NHDF-Ad	bronchial
47	chr7:17834000-17846200	Weak transcription	Thymus	Thymus
48	chr7:17834000-17852400	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr7:17834000-17853000	Weak transcription	Hela-S3	cervix
50	chr7:17834000-17887800	Weak transcription	Right Ventricle	heart

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