Variant report

Variant	rs12742934
Chromosome Location	chr1:211871846-211871847
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:211871766..211872437-chr1:212628934..212629488,2	K562	blood:
2	chr1:211871387..211873380-chr1:212206140..212208197,2	K562	blood:
3	chr1:211871611..211872531-chr1:212003664..212004660,3	MCF-7	breast:
4	chr1:211871592..211872542-chr1:212003704..212004641,4	K562	blood:
5	chr1:211871408..211872238-chr1:212117782..212118707,5	MCF-7	breast:
6	chr1:211871693..211872486-chr1:212003719..212004352,3	MCF-7	breast:
7	chr1:211871610..211872409-chr1:212207948..212208483,2	K562	blood:
8	chr1:211871629..211872244-chr1:212118224..212119112,2	MCF-7	breast:
9	chr1:211867435..211872084-chr1:212001341..212005541,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000123684	Chromatin interaction
ENSG00000229258	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1123527	1.00[ASN][1000 genomes]
rs11590937	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11799776	1.00[ASN][1000 genomes]
rs12729804	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12747691	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1867376	1.00[ASN][1000 genomes]
rs2027225	1.00[ASN][1000 genomes]
rs34550869	1.00[ASN][1000 genomes]
rs35768943	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs55960543	1.00[ASN][1000 genomes]
rs56320548	1.00[ASN][1000 genomes]
rs6669055	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6684175	1.00[ASN][1000 genomes]
rs6694934	1.00[ASN][1000 genomes]
rs726986	1.00[ASN][1000 genomes]
rs745496	1.00[ASN][1000 genomes]
rs7513065	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7548952	1.00[ASN][1000 genomes]
rs9429874	1.00[ASN][1000 genomes]
rs9430072	1.00[ASN][1000 genomes]
rs9430074	1.00[ASN][1000 genomes]
rs9430077	1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2754845	chr1:211846605-211878605	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS 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	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211859600-211872000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:211867800-211872000	Enhancers	Primary T cells fromperipheralblood	blood
3	chr1:211867800-211873000	Enhancers	Primary B cells from peripheral blood	blood
4	chr1:211868000-211872800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
5	chr1:211868400-211872800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
6	chr1:211869200-211872000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:211869200-211872000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr1:211869200-211872000	Weak transcription	K562	blood
9	chr1:211869800-211872000	Enhancers	Fetal Thymus	thymus
10	chr1:211870000-211872000	Weak transcription	Colonic Mucosa	Colon
11	chr1:211870200-211872000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr1:211870200-211872000	Weak transcription	Pancreas	Pancrea
13	chr1:211870200-211872000	Weak transcription	HMEC	breast
14	chr1:211870200-211872000	Weak transcription	NHEK	skin
15	chr1:211870400-211872200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr1:211870600-211872000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
17	chr1:211870600-211872200	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr1:211870800-211872400	Enhancers	Primary T helper naive cells from peripheral blood	blood
19	chr1:211871000-211872200	Enhancers	Primary hematopoietic stem cells	blood
20	chr1:211871000-211872400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr1:211871000-211872400	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr1:211871600-211872000	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr1:211871600-211872000	Enhancers	Adipose Nuclei	Adipose
24	chr1:211871600-211872000	Enhancers	Colon Smooth Muscle	Colon
25	chr1:211871600-211872000	Bivalent Enhancer	Fetal Stomach	stomach
26	chr1:211871600-211872000	Bivalent Enhancer	Stomach Smooth Muscle	stomach
27	chr1:211871600-211872200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chr1:211871600-211872200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr1:211871600-211872200	Enhancers	Primary T killer memory cells from peripheral blood	blood
30	chr1:211871600-211872200	Active TSS	Hela-S3	cervix
31	chr1:211871600-211872400	Flanking Active TSS	Primary B cells from cord blood	blood
32	chr1:211871600-211872400	Enhancers	Brain Angular Gyrus	brain
33	chr1:211871600-211872600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr1:211871600-211872600	Enhancers	Spleen	Spleen
35	chr1:211871600-211872800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr1:211871600-211872800	Enhancers	A549	lung
37	chr1:211871800-211872000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
38	chr1:211871800-211872000	Enhancers	Primary neutrophils fromperipheralblood	blood
39	chr1:211871800-211872000	Active TSS	Primary T cells from cord blood	blood
40	chr1:211871800-211872000	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr1:211871800-211872000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr1:211871800-211872000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr1:211871800-211872000	Enhancers	Brain Cingulate Gyrus	brain
44	chr1:211871800-211872000	Enhancers	Brain Inferior Temporal Lobe	brain
45	chr1:211871800-211872000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
46	chr1:211871800-211872000	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
47	chr1:211871800-211872000	Bivalent Enhancer	Fetal Lung	lung
48	chr1:211871800-211872000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
49	chr1:211871800-211872000	Enhancers	Small Intestine	intestine
50	chr1:211871800-211872000	Enhancers	Thymus	Thymus

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links