Variant report

Variant	rs997805
Chromosome Location	chr12:11933267-11933268
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:11933115..11935435-chr12:11937428..11939790,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs11613179	0.89[AFR][1000 genomes]
rs12578238	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv870039	chr12:11800363-11996598	Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
2	nsv1053609	chr12:11898099-11933906	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv832331	chr12:11925095-12114451	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:11915400-11938000	Weak transcription	NHEK	skin
2	chr12:11915600-11938000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr12:11918000-11936000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr12:11919400-11935000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr12:11919600-11936200	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr12:11919600-11936800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr12:11920000-11937800	Weak transcription	NHLF	lung
8	chr12:11921800-11946600	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr12:11922000-11948200	Weak transcription	Colonic Mucosa	Colon
10	chr12:11923600-11934600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr12:11923600-11952000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr12:11925800-11938000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr12:11925800-11938000	Weak transcription	HMEC	breast
14	chr12:11926600-11936200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr12:11927000-11936000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr12:11927400-11934400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr12:11927400-11937400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr12:11927400-11941400	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr12:11927800-11946200	Weak transcription	Gastric	stomach
20	chr12:11928000-11933400	Weak transcription	Placenta	Placenta
21	chr12:11928000-11946400	Weak transcription	Fetal Intestine Large	intestine
22	chr12:11928200-11936800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr12:11928200-11938200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr12:11929000-11938200	Weak transcription	Brain Cingulate Gyrus	brain
25	chr12:11929800-11934200	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr12:11929800-11935200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr12:11929800-11946200	Weak transcription	HUVEC	blood vessel
28	chr12:11929800-11948600	Weak transcription	Primary B cells from cord blood	blood
29	chr12:11930000-11934200	Enhancers	Stomach Smooth Muscle	stomach
30	chr12:11930000-11943200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr12:11930400-11934600	Enhancers	Rectal Smooth Muscle	rectum
32	chr12:11930600-11934000	Enhancers	Fetal Heart	heart
33	chr12:11930800-11933600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
34	chr12:11930800-11934400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
35	chr12:11930800-11935000	Enhancers	Colon Smooth Muscle	Colon
36	chr12:11930800-11938600	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr12:11931000-11933400	Weak transcription	Pancreas	Pancrea
38	chr12:11931200-11933400	Weak transcription	Primary neutrophils fromperipheralblood	blood
39	chr12:11931200-11943800	Weak transcription	Ovary	ovary
40	chr12:11931200-11951600	Weak transcription	Primary T cells from cord blood	blood
41	chr12:11931400-11933400	Weak transcription	Spleen	Spleen
42	chr12:11931400-11934000	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr12:11931400-11936800	Weak transcription	Fetal Intestine Small	intestine
44	chr12:11931400-11937000	Weak transcription	Fetal Muscle Trunk	muscle
45	chr12:11931400-11940800	Weak transcription	Primary T helper cells fromperipheralblood	blood
46	chr12:11931400-11946200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr12:11931400-11951200	Weak transcription	Primary T cells fromperipheralblood	blood
48	chr12:11931400-11951800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr12:11931600-11933400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr12:11931600-11933400	Weak transcription	Aorta	Aorta

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