Variant report

Variant	rs11169141
Chromosome Location	chr12:50146459-50146460
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:50146396-50148700	K562	blood:	n/a	n/a
2	SP1	chr12:50146155-50146465	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:50144547..50147013-chr12:50560890..50562715,2	MCF-7	breast:

Variant related genes	Relation type
TMBIM6	TF binding region
ENSG00000139624	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs12578456	1.00[CHB][hapmap]

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	nsv1045327	chr12:49975040-50551375	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases
2	nsv541490	chr12:49975040-50551375	Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	170 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:50136800-50146600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
2	chr12:50137000-50147000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:50137200-50152000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:50137400-50146600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr12:50137400-50150800	Weak transcription	Fetal Brain Male	brain
6	chr12:50139000-50146600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr12:50141400-50146800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr12:50142200-50148200	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr12:50144000-50146800	Enhancers	Duodenum Smooth Muscle	Duodenum
10	chr12:50144000-50146800	Weak transcription	Lung	lung
11	chr12:50144000-50151600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr12:50144200-50146600	Enhancers	Fetal Intestine Small	intestine
13	chr12:50144200-50146800	Weak transcription	Primary hematopoietic stem cells	blood
14	chr12:50144200-50148800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
15	chr12:50144400-50146600	Weak transcription	NHDF-Ad	bronchial
16	chr12:50144400-50146800	Weak transcription	Esophagus	oesophagus
17	chr12:50144400-50146800	Weak transcription	Gastric	stomach
18	chr12:50144400-50147000	Weak transcription	Pancreas	Pancrea
19	chr12:50144400-50147600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr12:50144600-50146600	Weak transcription	Colonic Mucosa	Colon
21	chr12:50144600-50146600	Weak transcription	Fetal Muscle Leg	muscle
22	chr12:50144600-50146600	Weak transcription	Fetal Stomach	stomach
23	chr12:50144600-50146600	Weak transcription	Thymus	Thymus
24	chr12:50144600-50146800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr12:50144600-50146800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr12:50144600-50146800	Weak transcription	Right Ventricle	heart
27	chr12:50144600-50146800	Weak transcription	Spleen	Spleen
28	chr12:50144600-50148000	Weak transcription	Right Atrium	heart
29	chr12:50144800-50146600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr12:50144800-50146600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr12:50144800-50146600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr12:50144800-50146600	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr12:50144800-50146600	Weak transcription	Brain Substantia Nigra	brain
34	chr12:50144800-50146600	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr12:50144800-50146800	Weak transcription	Aorta	Aorta
36	chr12:50144800-50146800	Enhancers	Colon Smooth Muscle	Colon
37	chr12:50144800-50146800	Weak transcription	Left Ventricle	heart
38	chr12:50144800-50146800	Weak transcription	Psoas Muscle	Psoas
39	chr12:50144800-50147000	Weak transcription	Small Intestine	intestine
40	chr12:50144800-50147200	Enhancers	Fetal Heart	heart
41	chr12:50144800-50148000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr12:50145000-50146800	Weak transcription	Brain Cingulate Gyrus	brain
43	chr12:50145000-50156000	Strong transcription	Dnd41	blood
44	chr12:50145000-50157000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr12:50145000-50159200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr12:50145200-50146600	Weak transcription	Brain Hippocampus Middle	brain
47	chr12:50145200-50146800	Weak transcription	Stomach Smooth Muscle	stomach
48	chr12:50145200-50147000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr12:50145200-50149600	Genic enhancers	Primary T helper cells PMA-I stimulated	--
50	chr12:50145200-50149600	Strong transcription	Hela-S3	cervix

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links