Variant report

Variant	rs12126135
Chromosome Location	chr1:246814806-246814807
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:246813415..246815262-chr1:246816849..246818678,2	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11586702	1.00[ASN][1000 genomes]
rs12117791	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12119414	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[ASN][1000 genomes]
rs12121655	1.00[ASN][1000 genomes]
rs12122261	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12127426	0.95[EUR][1000 genomes]
rs12130507	1.00[ASN][1000 genomes]
rs12134535	1.00[ASN][1000 genomes]
rs12728036	1.00[ASN][1000 genomes]
rs12728813	1.00[ASN][1000 genomes]
rs12750060	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34385126	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34471048	1.00[ASN][1000 genomes]
rs34695209	0.84[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35795797	1.00[ASN][1000 genomes]
rs61852409	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61852424	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61852425	1.00[ASN][1000 genomes]
rs6669532	1.00[ASN][1000 genomes]
rs6687128	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6701305	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6704469	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9426208	1.00[ASN][1000 genomes]
rs9426254	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014529	chr1:245957145-246817877	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
2	nsv948348	chr1:246090818-246853200	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv1013800	chr1:246472691-246840960	Strong transcription Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	nsv535409	chr1:246472691-246840960	Flanking Active TSS Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
5	esv2762191	chr1:246546436-246815064	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv1002805	chr1:246608164-246890518	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
7	nsv535413	chr1:246608164-246890518	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
8	nsv1010453	chr1:246645797-246815052	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
9	nsv998579	chr1:246666041-246817877	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
10	nsv1010316	chr1:246686301-246840960	Strong transcription Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
11	nsv535414	chr1:246686301-246840960	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
12	nsv949571	chr1:246688635-247240863	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
13	nsv528615	chr1:246708467-246843315	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
14	nsv1014280	chr1:246709243-246823255	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
15	nsv1005214	chr1:246730885-246841107	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
16	nsv1002595	chr1:246774036-246846548	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
17	nsv1007194	chr1:246813090-246855424	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:246755400-246832800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr1:246784200-246833800	Strong transcription	Primary T helper cells fromperipheralblood	blood
3	chr1:246789200-246839200	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr1:246796000-246831200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:246796200-246822000	Weak transcription	Brain Substantia Nigra	brain
6	chr1:246801000-246826400	Weak transcription	HMEC	breast
7	chr1:246801000-246829000	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr1:246801600-246842800	Weak transcription	Fetal Kidney	kidney
9	chr1:246801800-246817200	Weak transcription	A549	lung
10	chr1:246803400-246817200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr1:246803400-246822000	Weak transcription	Psoas Muscle	Psoas
12	chr1:246804200-246833400	Strong transcription	Liver	Liver
13	chr1:246804600-246833800	Strong transcription	Primary T cells from cord blood	blood
14	chr1:246804800-246834200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr1:246805200-246816000	Strong transcription	Primary T cells fromperipheralblood	blood
16	chr1:246805200-246819400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr1:246805200-246825200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr1:246805400-246837600	Weak transcription	Small Intestine	intestine
19	chr1:246807200-246820600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
20	chr1:246808200-246817400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr1:246808400-246817000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr1:246809600-246818400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr1:246810200-246819200	Strong transcription	Dnd41	blood
24	chr1:246810400-246815400	Strong transcription	Primary B cells from cord blood	blood
25	chr1:246810600-246828200	Weak transcription	Fetal Heart	heart
26	chr1:246811000-246815400	Weak transcription	Fetal Brain Male	brain
27	chr1:246811000-246817200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr1:246811000-246817200	Weak transcription	Ovary	ovary
29	chr1:246811000-246820000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr1:246811000-246820000	Weak transcription	Esophagus	oesophagus
31	chr1:246811000-246820000	Weak transcription	Fetal Intestine Small	intestine
32	chr1:246811000-246820400	Weak transcription	Lung	lung
33	chr1:246811000-246828600	Weak transcription	Brain Anterior Caudate	brain
34	chr1:246811000-246835000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr1:246811200-246817200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr1:246811200-246817200	Weak transcription	Aorta	Aorta
37	chr1:246811200-246817200	Weak transcription	Brain Cingulate Gyrus	brain
38	chr1:246811200-246817200	Weak transcription	Brain Germinal Matrix	brain
39	chr1:246811200-246817200	Weak transcription	HSMMtube	muscle
40	chr1:246811200-246817400	Weak transcription	Gastric	stomach
41	chr1:246811200-246817400	Weak transcription	Spleen	Spleen
42	chr1:246811200-246819400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr1:246811200-246820800	Weak transcription	Colon Smooth Muscle	Colon
44	chr1:246811200-246822000	Weak transcription	Brain Hippocampus Middle	brain
45	chr1:246811200-246823600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr1:246811200-246829000	Weak transcription	HSMM	muscle
47	chr1:246811200-246829600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr1:246811200-246835400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr1:246811200-246837400	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr1:246811400-246816400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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