Variant report

Variant	rs57306224
Chromosome Location	chr12:122081549-122081550
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:122072717..122074478-chr12:122079333..122082126,2	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs57271563	1.00[AMR][1000 genomes]
rs60847941	1.00[AMR][1000 genomes]
rs7952974	1.00[AMR][1000 genomes]
rs7965126	1.00[AMR][1000 genomes]
rs7972435	1.00[AMR][1000 genomes]
rs7974901	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053272	chr12:121956483-122132477	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Enhancers Bivalent Enhancer 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	36 gene(s)	inside rSNPs	diseases
2	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122066200-122090400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr12:122066400-122096600	Weak transcription	Brain Anterior Caudate	brain
3	chr12:122067800-122096600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr12:122069400-122082200	Weak transcription	NHDF-Ad	bronchial
5	chr12:122069400-122090800	Weak transcription	Hela-S3	cervix
6	chr12:122071200-122087200	Weak transcription	Left Ventricle	heart
7	chr12:122071400-122088400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr12:122071400-122090200	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr12:122071400-122095000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr12:122071400-122096600	Weak transcription	Colonic Mucosa	Colon
11	chr12:122071400-122096600	Weak transcription	Right Atrium	heart
12	chr12:122073000-122089400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr12:122073000-122091200	Strong transcription	Fetal Intestine Small	intestine
14	chr12:122073200-122082000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr12:122073200-122085600	Weak transcription	HSMMtube	muscle
16	chr12:122074200-122081800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr12:122075400-122082800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr12:122075600-122084800	Weak transcription	Rectal Smooth Muscle	rectum
19	chr12:122076200-122091200	Strong transcription	Fetal Stomach	stomach
20	chr12:122076400-122090600	Weak transcription	NHEK	skin
21	chr12:122076800-122086400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr12:122076800-122087000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
23	chr12:122077000-122084000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr12:122077200-122084800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr12:122077400-122085200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr12:122077400-122096400	Weak transcription	Osteobl	bone
27	chr12:122077600-122082000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr12:122078000-122081800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr12:122078000-122082800	Strong transcription	HUES6 Cell Line	embryonic stem cell
30	chr12:122078200-122082200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr12:122078800-122086400	Strong transcription	Primary T cells from cord blood	blood
32	chr12:122079000-122082000	Strong transcription	Lung	lung
33	chr12:122079200-122087200	Weak transcription	K562	blood
34	chr12:122079200-122093600	Weak transcription	Fetal Brain Female	brain
35	chr12:122079400-122083800	Strong transcription	Primary T cells fromperipheralblood	blood
36	chr12:122079400-122096600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr12:122079600-122082200	Strong transcription	Thymus	Thymus
38	chr12:122079600-122089400	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr12:122079600-122096600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr12:122079800-122082200	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr12:122079800-122082400	Weak transcription	HUVEC	blood vessel
42	chr12:122079800-122089400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr12:122079800-122091000	Weak transcription	Small Intestine	intestine
44	chr12:122080000-122082000	Weak transcription	A549	lung
45	chr12:122080000-122084800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr12:122080000-122086400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr12:122080000-122087200	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr12:122080000-122089200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr12:122080000-122090600	Weak transcription	Esophagus	oesophagus
50	chr12:122080000-122090800	Weak transcription	Right Ventricle	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links