Variant report

Variant	rs6673147
Chromosome Location	chr1:174143774-174143775
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	chr1:174136409..174138753-chr1:174139089..174145165,6	K562	blood:

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10489257	1.00[EUR][1000 genomes]
rs10912700	1.00[EUR][1000 genomes]
rs10912701	1.00[EUR][1000 genomes]
rs10912707	1.00[EUR][1000 genomes]
rs10912708	1.00[EUR][1000 genomes]
rs10912711	1.00[EUR][1000 genomes]
rs10912712	1.00[EUR][1000 genomes]
rs10912725	1.00[EUR][1000 genomes]
rs10912742	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10912743	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10912744	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10912748	1.00[EUR][1000 genomes]
rs10912760	1.00[EUR][1000 genomes]
rs10912767	1.00[EUR][1000 genomes]
rs10912768	1.00[EUR][1000 genomes]
rs12057220	1.00[EUR][1000 genomes]
rs12058498	1.00[EUR][1000 genomes]
rs12059636	1.00[EUR][1000 genomes]
rs12061013	1.00[EUR][1000 genomes]
rs12062801	1.00[EUR][1000 genomes]
rs12063273	1.00[EUR][1000 genomes]
rs12063296	1.00[EUR][1000 genomes]
rs12064818	1.00[EUR][1000 genomes]
rs12065194	1.00[EUR][1000 genomes]
rs12066028	1.00[EUR][1000 genomes]
rs12067109	1.00[EUR][1000 genomes]
rs12067191	1.00[EUR][1000 genomes]
rs12067445	1.00[EUR][1000 genomes]
rs12068440	1.00[EUR][1000 genomes]
rs12069446	1.00[EUR][1000 genomes]
rs12069450	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12070328	1.00[EUR][1000 genomes]
rs12071243	1.00[EUR][1000 genomes]
rs12072553	1.00[EUR][1000 genomes]
rs12073448	1.00[EUR][1000 genomes]
rs12073453	1.00[EUR][1000 genomes]
rs12075085	1.00[EUR][1000 genomes]
rs12075263	1.00[EUR][1000 genomes]
rs12076425	1.00[EUR][1000 genomes]
rs12077462	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs12078222	1.00[EUR][1000 genomes]
rs12078645	1.00[EUR][1000 genomes]
rs12078817	1.00[EUR][1000 genomes]
rs12079274	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12079650	1.00[EUR][1000 genomes]
rs12081444	1.00[EUR][1000 genomes]
rs12081595	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12082017	1.00[EUR][1000 genomes]
rs12084911	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12090908	1.00[EUR][1000 genomes]
rs12092291	1.00[EUR][1000 genomes]
rs12094364	1.00[EUR][1000 genomes]
rs12096013	1.00[EUR][1000 genomes]
rs12096718	1.00[EUR][1000 genomes]
rs1322781	1.00[EUR][1000 genomes]
rs1467397	1.00[EUR][1000 genomes]
rs16846878	1.00[EUR][1000 genomes]
rs1956522	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6682041	1.00[EUR][1000 genomes]
rs7550107	1.00[EUR][1000 genomes]
rs997165	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv465661	chr1:174014507-174152688	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv548193	chr1:174014507-174152688	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv872552	chr1:174061844-174469748	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
4	nsv1008314	chr1:174080192-174311023	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
5	nsv535207	chr1:174080192-174311023	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
6	esv1799250	chr1:174119038-174484277	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
7	esv1800060	chr1:174132703-174501836	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
8	nsv465672	chr1:174133251-174469905	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
9	nsv548194	chr1:174133251-174469905	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:174129600-174164800	Weak transcription	Gastric	stomach
2	chr1:174129600-174173200	Weak transcription	Pancreas	Pancrea
3	chr1:174129800-174145600	Weak transcription	Fetal Thymus	thymus
4	chr1:174129800-174147000	Weak transcription	Fetal Brain Male	brain
5	chr1:174129800-174149600	Weak transcription	Aorta	Aorta
6	chr1:174130000-174144400	Weak transcription	Primary hematopoietic stem cells	blood
7	chr1:174130000-174157600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr1:174130200-174145000	Weak transcription	NHEK	skin
9	chr1:174130200-174145600	Weak transcription	Fetal Stomach	stomach
10	chr1:174130200-174147400	Weak transcription	Hela-S3	cervix
11	chr1:174130800-174156600	Weak transcription	Primary T cells from cord blood	blood
12	chr1:174134800-174159800	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr1:174135800-174143800	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr1:174136200-174150800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr1:174136400-174160000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr1:174137800-174155600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr1:174138400-174160000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr1:174139000-174159800	Weak transcription	Right Atrium	heart
19	chr1:174139200-174145000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr1:174139400-174153800	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr1:174141800-174145200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr1:174141800-174151200	Weak transcription	Fetal Heart	heart
23	chr1:174142000-174146600	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr1:174142000-174153800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr1:174142200-174143800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr1:174142800-174144600	Enhancers	Fetal Intestine Small	intestine
27	chr1:174143400-174143800	Weak transcription	Duodenum Mucosa	Duodenum
28	chr1:174143400-174144200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr1:174143400-174148000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr1:174143600-174143800	Enhancers	Primary B cells from peripheral blood	blood
31	chr1:174143600-174143800	Enhancers	Left Ventricle	heart
32	chr1:174143600-174143800	Enhancers	K562	blood
33	chr1:174143600-174144000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr1:174143600-174144000	Enhancers	Primary T cells fromperipheralblood	blood
35	chr1:174143600-174144000	Enhancers	Liver	Liver
36	chr1:174143600-174144000	Enhancers	Duodenum Smooth Muscle	Duodenum
37	chr1:174143600-174144000	Flanking Active TSS	HepG2	liver
38	chr1:174143600-174144600	Enhancers	Primary T helper cells PMA-I stimulated	--
39	chr1:174143600-174144600	Enhancers	Fetal Intestine Large	intestine
40	chr1:174143600-174145600	ZNF genes & repeats	GM12878-XiMat	blood

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