Variant report

Variant	rs11112088
Chromosome Location	chr12:104916202-104916203
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:104907056..104912149-chr12:104913273..104918297,6	K562	blood:
2	chr12:104909660..104911855-chr12:104915030..104918297,3	K562	blood:
3	chr12:104908202..104911501-chr12:104915065..104918852,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000258111	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs11112077	0.82[EUR][1000 genomes]
rs11112083	1.00[ASW][hapmap];0.95[CEU][hapmap]
rs11611979	0.91[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2374400	0.84[EUR][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	nsv832504	chr12:104853331-105028245	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11112088	CHST11	cis	cerebellum	SCAN

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104901200-104919200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:104901800-104920400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr12:104904400-104916800	Weak transcription	A549	lung
4	chr12:104904400-104917600	Weak transcription	Stomach Smooth Muscle	stomach
5	chr12:104905200-104916600	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr12:104905800-104916800	Weak transcription	Rectal Smooth Muscle	rectum
7	chr12:104906800-104917600	Weak transcription	HSMM	muscle
8	chr12:104907400-104917000	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr12:104907600-104917000	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr12:104908600-104920600	Weak transcription	Right Ventricle	heart
11	chr12:104909400-104919200	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr12:104909400-104919400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr12:104909800-104919400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr12:104910000-104917000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
15	chr12:104910400-104918200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr12:104911000-104921800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr12:104911400-104918600	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr12:104912000-104919200	Enhancers	Primary B cells from peripheral blood	blood
19	chr12:104912400-104918400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr12:104912800-104919200	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr12:104913200-104917800	Enhancers	Right Atrium	heart
22	chr12:104913200-104918600	Enhancers	Placenta	Placenta
23	chr12:104913400-104918600	Enhancers	Spleen	Spleen
24	chr12:104913600-104919600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr12:104913800-104916800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr12:104913800-104916800	Weak transcription	Brain Angular Gyrus	brain
27	chr12:104913800-104917200	Weak transcription	Brain Hippocampus Middle	brain
28	chr12:104914000-104916800	Weak transcription	Colon Smooth Muscle	Colon
29	chr12:104914000-104917000	Weak transcription	Ovary	ovary
30	chr12:104914000-104917200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr12:104914000-104917200	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr12:104914000-104918600	Enhancers	Primary hematopoietic stem cells	blood
33	chr12:104914000-104921200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr12:104914200-104916400	Weak transcription	Primary T cells from cord blood	blood
35	chr12:104914200-104917000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr12:104914200-104917000	Weak transcription	Duodenum Mucosa	Duodenum
37	chr12:104914400-104917000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr12:104914400-104917000	Weak transcription	HSMMtube	muscle
39	chr12:104914400-104918200	Enhancers	NHDF-Ad	bronchial
40	chr12:104914400-104919400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr12:104914600-104916400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr12:104914600-104916600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr12:104914600-104916600	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr12:104914600-104916600	Weak transcription	K562	blood
45	chr12:104914600-104917000	Weak transcription	H1 Cell Line	embryonic stem cell
46	chr12:104914600-104917000	Weak transcription	Fetal Muscle Leg	muscle
47	chr12:104914600-104917200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr12:104914600-104920400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr12:104914800-104916600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr12:104914800-104916600	Enhancers	GM12878-XiMat	blood

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