Variant report

Variant	rs3867146
Chromosome Location	chr12:124438005-124438006
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	chr12:124409804..124411396-chr12:124435768..124438703,2	K562	blood:

Variant related genes	Relation type
ENSG00000197653	Chromatin interaction
ENSG00000270028	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11057402	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12314727	1.00[JPT][hapmap]
rs707334	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs825510	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];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	nsv498024	chr12:123994372-124459856	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:124417600-124443600	Weak transcription	Fetal Kidney	kidney
2	chr12:124422400-124439200	Weak transcription	Psoas Muscle	Psoas
3	chr12:124423600-124442200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr12:124427000-124455000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr12:124427200-124456200	Weak transcription	Esophagus	oesophagus
6	chr12:124427800-124444800	Weak transcription	Primary hematopoietic stem cells	blood
7	chr12:124427800-124453400	Weak transcription	A549	lung
8	chr12:124428400-124455800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr12:124428400-124456000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr12:124428800-124449800	Weak transcription	HSMM	muscle
11	chr12:124428800-124455800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr12:124430000-124454800	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr12:124430000-124456200	Weak transcription	Fetal Thymus	thymus
14	chr12:124430200-124443600	Weak transcription	Colon Smooth Muscle	Colon
15	chr12:124430200-124445600	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr12:124430200-124453400	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr12:124430200-124455600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr12:124430400-124443600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr12:124430400-124449800	Weak transcription	Primary B cells from peripheral blood	blood
20	chr12:124430400-124450400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr12:124430400-124454800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr12:124430400-124455800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr12:124430400-124456000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr12:124430400-124456000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr12:124430400-124456000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr12:124430600-124441800	Weak transcription	Primary B cells from cord blood	blood
27	chr12:124430600-124443000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr12:124430600-124452600	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr12:124430600-124456200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr12:124431000-124443000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr12:124431800-124455800	Weak transcription	Stomach Smooth Muscle	stomach
32	chr12:124434000-124447400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr12:124434200-124447600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr12:124434400-124447200	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr12:124434400-124456200	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr12:124434600-124450000	Weak transcription	Thymus	Thymus
37	chr12:124434800-124446000	Weak transcription	Duodenum Mucosa	Duodenum
38	chr12:124435000-124441200	Weak transcription	Primary T cells from cord blood	blood
39	chr12:124435000-124444800	Weak transcription	Fetal Brain Female	brain
40	chr12:124435000-124447800	Weak transcription	Liver	Liver
41	chr12:124435200-124443000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr12:124435200-124443000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr12:124435200-124443000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr12:124435200-124443000	Weak transcription	Fetal Stomach	stomach
45	chr12:124435400-124450800	Weak transcription	HSMMtube	muscle
46	chr12:124435400-124456000	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr12:124435600-124442800	Weak transcription	Fetal Intestine Small	intestine
48	chr12:124435600-124444800	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr12:124435600-124450000	Weak transcription	Aorta	Aorta
50	chr12:124435600-124450000	Weak transcription	Fetal Muscle Leg	muscle

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links