Variant report

Variant	rs4731377
Chromosome Location	chr7:127381201-127381202
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:127378569..127381323-chr7:127384517..127386494,2	K562	blood:

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs10954164	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11768841	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11772303	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1193335	0.80[AMR][1000 genomes]
rs12539411	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12540484	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12667197	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12668077	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12672945	0.83[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs12673293	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1419967	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16871926	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17151229	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17151377	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17151470	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2058457	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2402871	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3757763	0.80[AMR][1000 genomes]
rs3757771	0.81[AMR][1000 genomes]
rs3757778	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3757780	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3808078	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3808086	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3808088	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3824003	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4728079	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56185520	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58106688	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59140894	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs62481385	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62481416	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62481419	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62481443	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs62481447	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62481450	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs67338333	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs698408	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs712707	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs712715	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs712718	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs712719	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs765971	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs806166	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs806169	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs806172	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs806174	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs806188	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs882694	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9791922	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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
4	nsv831123	chr7:127289511-127510396	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers 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	21 gene(s)	inside rSNPs	diseases
5	nsv1030387	chr7:127348973-127455890	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127347800-127383000	Strong transcription	NHEK	skin
2	chr7:127351400-127383800	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr7:127351600-127382200	Strong transcription	K562	blood
4	chr7:127357200-127382600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
5	chr7:127357600-127387000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr7:127360600-127382000	Strong transcription	Hela-S3	cervix
7	chr7:127361200-127391400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr7:127362600-127400000	Weak transcription	Small Intestine	intestine
9	chr7:127363400-127391000	Weak transcription	Colon Smooth Muscle	Colon
10	chr7:127363400-127391400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr7:127366000-127391000	Weak transcription	Rectal Smooth Muscle	rectum
12	chr7:127366200-127391200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr7:127368800-127391600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr7:127369000-127384800	Weak transcription	Stomach Mucosa	stomach
15	chr7:127370000-127391200	Weak transcription	NHDF-Ad	bronchial
16	chr7:127371000-127382200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr7:127371200-127391600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr7:127371800-127382200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr7:127371800-127391200	Weak transcription	Esophagus	oesophagus
20	chr7:127372000-127391000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr7:127372200-127384800	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr7:127372200-127386000	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr7:127372200-127391200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr7:127372200-127395600	Weak transcription	Thymus	Thymus
25	chr7:127372400-127381600	Weak transcription	Spleen	Spleen
26	chr7:127372400-127391200	Weak transcription	Brain Anterior Caudate	brain
27	chr7:127372400-127391200	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr7:127372600-127385600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr7:127372600-127391000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr7:127372600-127391200	Weak transcription	Brain Cingulate Gyrus	brain
31	chr7:127372600-127394600	Weak transcription	Ovary	ovary
32	chr7:127373200-127391200	Weak transcription	Brain Substantia Nigra	brain
33	chr7:127373200-127410000	Weak transcription	Stomach Smooth Muscle	stomach
34	chr7:127373400-127391000	Weak transcription	HSMMtube	muscle
35	chr7:127374000-127391000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr7:127374400-127390400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr7:127374800-127392200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
38	chr7:127375000-127388600	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr7:127375200-127387800	Weak transcription	Primary hematopoietic stem cells	blood
40	chr7:127375200-127391200	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr7:127375200-127395800	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr7:127375400-127391200	Weak transcription	Adipose Nuclei	Adipose
43	chr7:127375400-127391800	Weak transcription	Fetal Muscle Trunk	muscle
44	chr7:127375400-127417400	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr7:127375600-127389800	Weak transcription	Fetal Intestine Small	intestine
46	chr7:127375600-127401000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr7:127376400-127382400	Strong transcription	Primary T cells from cord blood	blood
48	chr7:127376400-127382400	Strong transcription	Dnd41	blood
49	chr7:127376800-127409200	Weak transcription	HUVEC	blood vessel
50	chr7:127377000-127381400	Weak transcription	Right Ventricle	heart

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