Variant report

Variant	rs11112997
Chromosome Location	chr12:106842558-106842559
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	chr12:106834815..106838397-chr12:106839925..106842697,3	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11112977	0.95[ASN][1000 genomes]
rs12579099	1.00[ASN][1000 genomes]
rs12581541	0.95[ASN][1000 genomes]
rs12581936	0.95[ASN][1000 genomes]
rs3851634	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4964175	1.00[ASN][1000 genomes]
rs6539267	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][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	esv3435035	chr12:106765277-107015325	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv832510	chr12:106787730-106951140	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106787600-106856600	Weak transcription	GM12878-XiMat	blood
2	chr12:106787800-106852400	Weak transcription	Gastric	stomach
3	chr12:106787800-106852800	Weak transcription	Pancreas	Pancrea
4	chr12:106802400-106854000	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr12:106812000-106855000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr12:106813000-106864800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr12:106813200-106852800	Weak transcription	HMEC	breast
8	chr12:106813200-106855800	Weak transcription	NHDF-Ad	bronchial
9	chr12:106813200-106864800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr12:106814400-106855800	Weak transcription	Stomach Mucosa	stomach
11	chr12:106819400-106855600	Weak transcription	Right Ventricle	heart
12	chr12:106819600-106845000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr12:106819600-106846000	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr12:106822000-106852400	Weak transcription	Brain Angular Gyrus	brain
15	chr12:106822000-106853400	Weak transcription	Fetal Brain Female	brain
16	chr12:106822400-106848400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr12:106823200-106858000	Weak transcription	Psoas Muscle	Psoas
18	chr12:106824800-106866400	Weak transcription	NHLF	lung
19	chr12:106826200-106843600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr12:106827200-106853000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr12:106827200-106853200	Weak transcription	Fetal Heart	heart
22	chr12:106828600-106905800	Weak transcription	Rectal Smooth Muscle	rectum
23	chr12:106828800-106852400	Weak transcription	Fetal Thymus	thymus
24	chr12:106828800-106855800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr12:106828800-106856400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr12:106829000-106867200	Weak transcription	Colon Smooth Muscle	Colon
27	chr12:106829200-106851800	Weak transcription	Fetal Intestine Small	intestine
28	chr12:106830200-106847400	Weak transcription	HUVEC	blood vessel
29	chr12:106830200-106851400	Weak transcription	Spleen	Spleen
30	chr12:106830400-106864600	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr12:106830400-106865800	Weak transcription	K562	blood
32	chr12:106830600-106852400	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr12:106830600-106853000	Weak transcription	HepG2	liver
34	chr12:106830800-106848800	Weak transcription	Aorta	Aorta
35	chr12:106830800-106849400	Weak transcription	HSMMtube	muscle
36	chr12:106831200-106845200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr12:106831200-106850200	Weak transcription	Primary B cells from peripheral blood	blood
38	chr12:106831200-106852200	Weak transcription	NHEK	skin
39	chr12:106831200-106856200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr12:106831400-106851600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr12:106831400-106855200	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr12:106831600-106845600	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr12:106831600-106847200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
44	chr12:106831600-106856400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
45	chr12:106831600-106856400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr12:106832000-106851600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr12:106833000-106849000	Weak transcription	Fetal Lung	lung
48	chr12:106833000-106864400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr12:106833800-106848200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr12:106833800-106851600	Weak transcription	Fetal Intestine Large	intestine

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