Variant report

Variant	rs72950550
Chromosome Location	chr4:106350391-106350392
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs11097889	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11737582	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12108480	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12108594	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17035483	1.00[AMR][1000 genomes]
rs17035566	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17035569	0.85[AFR][1000 genomes]
rs17035594	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17035595	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17035600	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17035605	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17035609	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17035618	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28417349	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35695427	1.00[AMR][1000 genomes]
rs41485844	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs41505250	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57620916	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57624740	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60734979	1.00[AMR][1000 genomes]
rs72950516	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72950533	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72950537	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72950555	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72950565	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72950576	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72950590	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72950594	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72950598	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72952259	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72952274	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72952276	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72952281	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72952296	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72952301	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72952362	1.00[AMR][1000 genomes]
rs72952393	1.00[AMR][1000 genomes]
rs72962224	1.00[AMR][1000 genomes]
rs72962234	1.00[AMR][1000 genomes]
rs72962246	1.00[AMR][1000 genomes]
rs72962257	1.00[AMR][1000 genomes]
rs72962270	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72962273	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72963011	1.00[AMR][1000 genomes]
rs72963039	1.00[AMR][1000 genomes]
rs72964211	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72964213	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72964224	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72964228	0.83[AFR][1000 genomes]
rs72964242	0.85[AFR][1000 genomes]
rs72964244	0.85[AFR][1000 genomes]
rs72964262	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72964265	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72964271	0.85[AFR][1000 genomes]
rs72964288	0.85[AFR][1000 genomes]
rs7695564	1.00[AMR][1000 genomes]
rs9968337	0.85[AFR][1000 genomes]
rs9968402	0.85[AFR][1000 genomes]
rs9968408	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv461609	chr4:105869548-106366209	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv470063	chr4:105869548-106366209	Transcr. at gene 5' and 3' Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv595007	chr4:105869548-106366209	Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
4	nsv879699	chr4:106212562-106698892	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
5	nsv830027	chr4:106222010-106406738	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	nsv1002228	chr4:106346206-106433381	ZNF genes & repeats Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 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	chr4:106287600-106357000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr4:106309400-106351000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr4:106321400-106367200	Weak transcription	HUVEC	blood vessel
4	chr4:106321600-106356200	Weak transcription	Muscle Satellite Cultured Cells	--
5	chr4:106321800-106353600	Weak transcription	HMEC	breast
6	chr4:106323600-106372800	Weak transcription	Stomach Mucosa	stomach
7	chr4:106326000-106356400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr4:106326000-106356600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr4:106326000-106363200	Weak transcription	Colon Smooth Muscle	Colon
10	chr4:106327200-106365200	Weak transcription	Osteobl	bone
11	chr4:106327200-106389200	Weak transcription	Small Intestine	intestine
12	chr4:106327200-106390600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr4:106330600-106356400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr4:106336600-106356400	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr4:106336800-106376400	Weak transcription	Right Ventricle	heart
16	chr4:106336800-106387800	Weak transcription	NHLF	lung
17	chr4:106337000-106354400	Weak transcription	Left Ventricle	heart
18	chr4:106337000-106354600	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr4:106337200-106356600	Weak transcription	Brain Cingulate Gyrus	brain
20	chr4:106340200-106387800	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr4:106341600-106376000	Weak transcription	Fetal Heart	heart
22	chr4:106343200-106363000	Weak transcription	Psoas Muscle	Psoas
23	chr4:106344000-106363800	Weak transcription	HepG2	liver
24	chr4:106344200-106352800	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr4:106345200-106350800	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr4:106345200-106354400	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr4:106345200-106354800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr4:106345200-106358800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr4:106346000-106350600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr4:106346400-106354600	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr4:106346600-106354200	Weak transcription	NH-A	brain
32	chr4:106346600-106369000	Weak transcription	Hela-S3	cervix
33	chr4:106347200-106366000	Weak transcription	NHDF-Ad	bronchial
34	chr4:106347600-106351600	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr4:106347600-106355400	Weak transcription	K562	blood
36	chr4:106347600-106367600	Weak transcription	Fetal Brain Male	brain
37	chr4:106347600-106392800	Weak transcription	Colonic Mucosa	Colon
38	chr4:106347800-106352600	Weak transcription	A549	lung
39	chr4:106347800-106352800	Weak transcription	Primary B cells from peripheral blood	blood
40	chr4:106347800-106354600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr4:106347800-106354800	Weak transcription	HSMM	muscle
42	chr4:106347800-106357200	Weak transcription	Placenta Amnion	Placenta Amnion
43	chr4:106347800-106362800	Weak transcription	Spleen	Spleen
44	chr4:106347800-106375200	Weak transcription	H1 Cell Line	embryonic stem cell
45	chr4:106348000-106351600	Weak transcription	Primary B cells from cord blood	blood
46	chr4:106348000-106351600	Weak transcription	Fetal Intestine Large	intestine
47	chr4:106348000-106354200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr4:106348000-106354400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr4:106348000-106354600	Weak transcription	NHEK	skin
50	chr4:106348000-106354800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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