Variant report

Variant	rs12097914
Chromosome Location	chr1:46042442-46042443
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:46035115..46037673-chr1:46042096..46043959,2	K562	blood:
2	chr1:46041637..46043172-chr1:46048311..46049906,2	MCF-7	breast:
3	chr1:46039552..46042482-chr1:46044610..46047405,2	K562	blood:
4	chr1:46041016..46043943-chr1:46047684..46049396,2	MCF-7	breast:
5	chr1:46037943..46043170-chr1:46048057..46052696,10	K562	blood:

Variant related genes	Relation type
ENSG00000132780	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs11211127	1.00[AMR][1000 genomes]
rs11211144	1.00[AMR][1000 genomes]
rs11211148	1.00[AMR][1000 genomes]
rs11211153	1.00[AMR][1000 genomes]
rs11211154	1.00[AMR][1000 genomes]
rs11211155	1.00[AMR][1000 genomes]
rs11211156	1.00[AMR][1000 genomes]
rs11211167	1.00[AMR][1000 genomes]
rs12057167	1.00[AMR][1000 genomes]
rs12060056	1.00[AMR][1000 genomes]
rs12061890	1.00[AMR][1000 genomes]
rs12062361	1.00[AMR][1000 genomes]
rs12063380	1.00[AMR][1000 genomes]
rs12064908	1.00[AMR][1000 genomes]
rs12067882	1.00[AMR][1000 genomes]
rs12070146	1.00[AMR][1000 genomes]
rs12070177	1.00[AMR][1000 genomes]
rs12073045	1.00[AMR][1000 genomes]
rs12073047	1.00[AMR][1000 genomes]
rs12073132	1.00[AMR][1000 genomes]
rs12077112	1.00[AMR][1000 genomes]
rs12080482	1.00[AMR][1000 genomes]
rs12081121	1.00[AMR][1000 genomes]
rs12082672	1.00[AMR][1000 genomes]
rs12085372	1.00[AMR][1000 genomes]
rs12086880	1.00[AMR][1000 genomes]
rs12088810	1.00[AMR][1000 genomes]
rs12091335	1.00[AMR][1000 genomes]
rs12091360	1.00[AMR][1000 genomes]
rs12093444	1.00[AMR][1000 genomes]
rs12094011	1.00[AMR][1000 genomes]
rs16832540	1.00[AMR][1000 genomes]
rs16832550	1.00[AMR][1000 genomes]
rs16832553	1.00[AMR][1000 genomes]
rs16832557	1.00[AMR][1000 genomes]
rs1691225	1.00[AMR][1000 genomes]
rs1691226	1.00[AMR][1000 genomes]
rs1691227	1.00[AMR][1000 genomes]
rs1762087	1.00[AMR][1000 genomes]
rs2782489	1.00[AMR][1000 genomes]
rs28532613	1.00[AMR][1000 genomes]
rs28548585	1.00[AMR][1000 genomes]
rs28576912	1.00[AMR][1000 genomes]
rs28607905	1.00[AMR][1000 genomes]
rs35067820	1.00[AMR][1000 genomes]
rs35808563	1.00[AMR][1000 genomes]
rs486346	1.00[AMR][1000 genomes]
rs505175	1.00[AMR][1000 genomes]
rs506094	1.00[AMR][1000 genomes]
rs525706	1.00[AMR][1000 genomes]
rs622296	1.00[AMR][1000 genomes]
rs635446	1.00[AMR][1000 genomes]
rs665014	1.00[AMR][1000 genomes]
rs668289	1.00[AMR][1000 genomes]
rs669417	1.00[AMR][1000 genomes]
rs680267	1.00[AMR][1000 genomes]
rs7550744	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498036	chr1:45428030-46050934	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv530016	chr1:45868543-46069020	Flanking Active TSS Genic enhancers Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	149 gene(s)	inside rSNPs	diseases
3	nsv829726	chr1:45897581-46103186	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	148 gene(s)	inside rSNPs	diseases
4	nsv529631	chr1:45905936-46335246	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	207 gene(s)	inside rSNPs	diseases
5	nsv932680	chr1:45935520-46686477	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	232 gene(s)	inside rSNPs	diseases
6	nsv868828	chr1:45953923-46686477	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	232 gene(s)	inside rSNPs	diseases
7	nsv871928	chr1:46024701-46609736	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking 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	123 gene(s)	inside rSNPs	diseases
8	esv3342998	chr1:46035908-46066462	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:46032600-46049000	Weak transcription	Right Atrium	heart
2	chr1:46033000-46048800	Weak transcription	Fetal Brain Male	brain
3	chr1:46034200-46048800	Weak transcription	Stomach Mucosa	stomach
4	chr1:46035000-46042600	Weak transcription	HMEC	breast
5	chr1:46035400-46048800	Weak transcription	Brain Substantia Nigra	brain
6	chr1:46035600-46048000	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr1:46035600-46048800	Weak transcription	Brain Angular Gyrus	brain
8	chr1:46035800-46048800	Weak transcription	Colon Smooth Muscle	Colon
9	chr1:46035800-46048800	Weak transcription	Hela-S3	cervix
10	chr1:46036200-46047600	Weak transcription	Primary B cells from cord blood	blood
11	chr1:46036200-46048800	Weak transcription	Stomach Smooth Muscle	stomach
12	chr1:46036400-46048000	Weak transcription	Spleen	Spleen
13	chr1:46036400-46048600	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr1:46036400-46048800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr1:46036400-46048800	Weak transcription	Brain Germinal Matrix	brain
16	chr1:46036400-46049200	Weak transcription	Gastric	stomach
17	chr1:46036600-46047400	Weak transcription	Primary B cells from peripheral blood	blood
18	chr1:46036600-46048200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
19	chr1:46036600-46048600	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr1:46036600-46048600	Weak transcription	Lung	lung
21	chr1:46036600-46048800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr1:46036600-46048800	Weak transcription	Brain Anterior Caudate	brain
23	chr1:46036600-46048800	Weak transcription	Fetal Kidney	kidney
24	chr1:46036600-46048800	Weak transcription	Fetal Lung	lung
25	chr1:46036600-46048800	Weak transcription	Dnd41	blood
26	chr1:46036600-46048800	Weak transcription	HepG2	liver
27	chr1:46036800-46047600	Weak transcription	Primary hematopoietic stem cells	blood
28	chr1:46036800-46047600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr1:46036800-46047600	Weak transcription	GM12878-XiMat	blood
30	chr1:46036800-46048000	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr1:46036800-46048000	Weak transcription	Fetal Thymus	thymus
32	chr1:46036800-46048800	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr1:46036800-46048800	Weak transcription	Adipose Nuclei	Adipose
34	chr1:46036800-46048800	Weak transcription	Liver	Liver
35	chr1:46036800-46048800	Weak transcription	Brain Cingulate Gyrus	brain
36	chr1:46036800-46048800	Weak transcription	Fetal Brain Female	brain
37	chr1:46036800-46048800	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr1:46036800-46048800	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr1:46036800-46048800	Weak transcription	Thymus	Thymus
40	chr1:46036800-46048800	Weak transcription	A549	lung
41	chr1:46036800-46048800	Weak transcription	NH-A	brain
42	chr1:46036800-46048800	Weak transcription	Osteobl	bone
43	chr1:46036800-46049000	Weak transcription	Primary T cells from cord blood	blood
44	chr1:46036800-46049200	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr1:46037000-46048800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr1:46037200-46048800	Weak transcription	Duodenum Mucosa	Duodenum
47	chr1:46037400-46047600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr1:46037400-46048600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr1:46037400-46048600	Weak transcription	Fetal Muscle Trunk	muscle
50	chr1:46037400-46048800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links