Variant report

Variant	rs10230692
Chromosome Location	chr7:139421180-139421181
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1015121	0.91[EUR][1000 genomes]
rs10224408	0.93[CEU][hapmap];0.91[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10254826	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10268753	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10278124	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1106768	0.88[EUR][1000 genomes]
rs12155449	0.85[CEU][hapmap];0.88[EUR][1000 genomes]
rs12374779	0.91[EUR][1000 genomes]
rs12374780	0.89[EUR][1000 genomes]
rs17177103	0.94[EUR][1000 genomes]
rs17177358	0.91[EUR][1000 genomes]
rs17177953	0.85[CEU][hapmap]
rs17262390	0.91[EUR][1000 genomes]
rs17262662	0.90[EUR][1000 genomes]
rs17262676	0.90[EUR][1000 genomes]
rs4074826	1.00[CEU][hapmap];0.92[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4074827	1.00[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56079671	0.81[EUR][1000 genomes]
rs56840127	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61054086	0.91[EUR][1000 genomes]
rs6967634	0.94[EUR][1000 genomes]
rs73158611	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73158613	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73158614	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73158616	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs740818	0.92[EUR][1000 genomes]
rs7787807	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7793114	0.94[EUR][1000 genomes]
rs7798740	0.89[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	nsv1020234	chr7:139377822-139661964	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1032711	chr7:139411404-139684043	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv1801056	chr7:139419476-139427361	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	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	chr7:139414600-139437600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr7:139414800-139426600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr7:139416000-139425000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr7:139416200-139425000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr7:139416200-139431600	Weak transcription	Fetal Brain Male	brain
6	chr7:139416600-139421600	Weak transcription	Fetal Kidney	kidney
7	chr7:139416600-139424800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr7:139416600-139424800	Weak transcription	HMEC	breast
9	chr7:139416600-139425000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr7:139416600-139426600	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr7:139416600-139431000	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr7:139416600-139432000	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr7:139416800-139421600	Weak transcription	Fetal Thymus	thymus
14	chr7:139416800-139423200	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr7:139416800-139424800	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr7:139416800-139424800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr7:139416800-139425000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr7:139416800-139425000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr7:139416800-139425000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr7:139416800-139426600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr7:139416800-139426600	Weak transcription	Esophagus	oesophagus
22	chr7:139416800-139427200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr7:139417000-139421200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr7:139417000-139421400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr7:139417000-139422000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr7:139417000-139424800	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr7:139417000-139425000	Weak transcription	Thymus	Thymus
28	chr7:139417000-139431000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr7:139417200-139424800	Weak transcription	NH-A	brain
30	chr7:139417200-139425000	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr7:139417200-139433200	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr7:139417400-139424800	Weak transcription	Primary T cells from cord blood	blood
33	chr7:139417400-139425000	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr7:139417400-139425800	Weak transcription	NHEK	skin
35	chr7:139417400-139426000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr7:139417400-139426000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr7:139417400-139427400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr7:139417400-139430600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr7:139417400-139430600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr7:139417400-139431800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr7:139417600-139421200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr7:139418200-139422800	Enhancers	Brain Substantia Nigra	brain
43	chr7:139418200-139423400	Enhancers	Brain Hippocampus Middle	brain
44	chr7:139418600-139421800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr7:139418600-139421800	Enhancers	Sigmoid Colon	Sigmoid Colon
46	chr7:139418800-139422400	Enhancers	Primary neutrophils fromperipheralblood	blood
47	chr7:139419200-139421400	Enhancers	Stomach Mucosa	stomach
48	chr7:139419200-139421600	Enhancers	Primary T helper cells PMA-I stimulated	--
49	chr7:139419200-139422800	Enhancers	Brain Anterior Caudate	brain
50	chr7:139419200-139422800	Enhancers	Duodenum Mucosa	Duodenum

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