Variant report

Variant	rs12252447
Chromosome Location	chr10:94331632-94331633
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:94301008..94306280-chr10:94330329..94333980,6	MCF-7	breast:
2	chr10:94327650..94337583-chr10:94349444..94356782,22	K562	blood:
3	chr10:94300885..94308768-chr10:94330971..94336052,7	K562	blood:
4	chr10:94330286..94336827-chr10:94349891..94354260,15	K562	blood:
5	chr10:94330457..94332438-chr10:94448558..94451661,3	K562	blood:
6	chr10:94329944..94332046-chr10:94350652..94352961,2	MCF-7	breast:
7	chr10:94331601..94334574-chr10:94607928..94609540,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000138160	Chromatin interaction
ENSG00000138190	Chromatin interaction
ENSG00000152804	Chromatin interaction
ENSG00000119912	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11187042	1.00[EUR][1000 genomes]
rs11187062	0.83[AMR][1000 genomes]
rs12255048	0.98[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12258487	0.87[AFR][1000 genomes]
rs34417963	1.00[EUR][1000 genomes]
rs56085207	0.83[AMR][1000 genomes]
rs58681266	0.83[AMR][1000 genomes]
rs60175335	0.83[AMR][1000 genomes]
rs61401447	1.00[EUR][1000 genomes]
rs7900822	0.83[AMR][1000 genomes]
rs7909487	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046258	chr10:93866969-94466106	Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	esv1792868	chr10:94232247-94409749	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	nsv895894	chr10:94249982-94452430	Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	nsv895895	chr10:94304132-94372706	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:94272200-94332000	Weak transcription	Rectal Smooth Muscle	rectum
2	chr10:94272200-94332200	Weak transcription	Gastric	stomach
3	chr10:94277800-94332200	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr10:94314200-94332000	Weak transcription	Colonic Mucosa	Colon
5	chr10:94314400-94332200	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr10:94314400-94332400	Weak transcription	Aorta	Aorta
7	chr10:94314400-94332400	Weak transcription	Lung	lung
8	chr10:94317600-94332200	Weak transcription	Fetal Thymus	thymus
9	chr10:94318000-94332000	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr10:94319400-94332200	Weak transcription	Fetal Kidney	kidney
11	chr10:94319800-94332000	Weak transcription	Brain Germinal Matrix	brain
12	chr10:94320200-94331800	Weak transcription	Brain Hippocampus Middle	brain
13	chr10:94320400-94332000	Weak transcription	Placenta	Placenta
14	chr10:94320400-94332200	Weak transcription	Primary B cells from cord blood	blood
15	chr10:94320400-94332200	Weak transcription	Primary hematopoietic stem cells	blood
16	chr10:94320400-94332200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr10:94320800-94332000	Weak transcription	Fetal Muscle Leg	muscle
18	chr10:94320800-94332000	Weak transcription	HSMM	muscle
19	chr10:94320800-94332200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr10:94320800-94332200	Weak transcription	Spleen	Spleen
21	chr10:94320800-94332400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr10:94320800-94332400	Weak transcription	Fetal Muscle Trunk	muscle
23	chr10:94320800-94332600	Weak transcription	Fetal Stomach	stomach
24	chr10:94321000-94332400	Weak transcription	Fetal Intestine Small	intestine
25	chr10:94323000-94332000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr10:94326000-94332000	Weak transcription	H1 Cell Line	embryonic stem cell
27	chr10:94326400-94332000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr10:94327200-94332200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr10:94327600-94332400	Weak transcription	Esophagus	oesophagus
30	chr10:94330000-94331800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr10:94330200-94332400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
32	chr10:94330600-94332200	Weak transcription	Fetal Brain Female	brain
33	chr10:94330800-94332000	Weak transcription	Thymus	Thymus
34	chr10:94331000-94331800	Flanking Active TSS	GM12878-XiMat	blood
35	chr10:94331000-94332000	Enhancers	Primary T helper cells PMA-I stimulated	--
36	chr10:94331000-94332000	Enhancers	Primary T helper cells fromperipheralblood	blood
37	chr10:94331000-94332000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr10:94331000-94332200	Enhancers	Psoas Muscle	Psoas
39	chr10:94331000-94332400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
40	chr10:94331200-94331800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr10:94331200-94331800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr10:94331200-94331800	Enhancers	Left Ventricle	heart
43	chr10:94331200-94331800	Enhancers	Pancreas	Pancrea
44	chr10:94331200-94331800	Enhancers	Skeletal Muscle Male	skeletal muscle
45	chr10:94331200-94332000	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr10:94331200-94332000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr10:94331200-94332000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
48	chr10:94331200-94332000	Enhancers	Pancreatic Islets	Pancreatic Islet
49	chr10:94331200-94332000	Enhancers	Right Atrium	heart
50	chr10:94331200-94332000	Enhancers	Right Ventricle	heart

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links