Variant report

Variant	rs11112083
Chromosome Location	chr12:104897227-104897228
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:104889078..104893153-chr12:104897198..104902053,5	K562	blood:
2	chr12:104858831..104861040-chr12:104895664..104898086,2	K562	blood:
3	chr12:104849161..104852195-chr12:104895253..104897377,3	K562	blood:
4	chr12:104897087..104900788-chr12:104905207..104908076,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000258111	Chromatin interaction
ENSG00000171310	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs11112088	1.00[ASW][hapmap];0.95[CEU][hapmap]
rs2374400	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.94[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	nsv832502	chr12:104833729-104908288	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	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
rs11112083	CHST11	cis	cerebellum	SCAN

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104869200-104899600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:104875400-104904200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr12:104880000-104897800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:104881600-104898600	Weak transcription	A549	lung
5	chr12:104882600-104900600	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr12:104884200-104898000	Weak transcription	Gastric	stomach
7	chr12:104887200-104903000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr12:104887600-104899400	Enhancers	Fetal Thymus	thymus
9	chr12:104888000-104900200	Weak transcription	Brain Substantia Nigra	brain
10	chr12:104888800-104898000	Weak transcription	Aorta	Aorta
11	chr12:104889000-104897400	Enhancers	Primary T cells fromperipheralblood	blood
12	chr12:104889200-104898200	Weak transcription	HSMMtube	muscle
13	chr12:104889800-104899000	Weak transcription	Brain Anterior Caudate	brain
14	chr12:104890000-104903800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr12:104890400-104898600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr12:104890400-104898800	Weak transcription	Brain Germinal Matrix	brain
17	chr12:104891200-104898000	Weak transcription	Right Atrium	heart
18	chr12:104892600-104899200	Enhancers	Primary T helper cells fromperipheralblood	blood
19	chr12:104892600-104900200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr12:104892600-104900800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr12:104892800-104897600	Enhancers	Primary T killer memory cells from peripheral blood	blood
22	chr12:104893000-104898400	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr12:104893000-104904400	Genic enhancers	Dnd41	blood
24	chr12:104893200-104898200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
25	chr12:104893200-104898800	Weak transcription	Placenta	Placenta
26	chr12:104893800-104898200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr12:104893800-104900200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr12:104894200-104898000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr12:104894400-104900200	Weak transcription	Fetal Lung	lung
30	chr12:104894400-104900400	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr12:104894400-104903800	Weak transcription	Rectal Smooth Muscle	rectum
32	chr12:104894800-104899400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
33	chr12:104894800-104900000	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr12:104894800-104913000	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr12:104895000-104897400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr12:104895000-104900000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr12:104895000-104900200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
38	chr12:104895400-104898400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr12:104895600-104898600	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr12:104895600-104901200	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr12:104895600-104901400	Weak transcription	Primary T cells from cord blood	blood
42	chr12:104895600-104904000	Weak transcription	Primary neutrophils fromperipheralblood	blood
43	chr12:104895800-104899800	Weak transcription	Pancreas	Pancrea
44	chr12:104895800-104900200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr12:104896000-104897800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr12:104896000-104899200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
47	chr12:104896000-104900000	Weak transcription	Small Intestine	intestine
48	chr12:104896200-104898000	Strong transcription	Monocytes-CD14+_RO01746	blood
49	chr12:104896200-104899600	Weak transcription	Fetal Brain Female	brain
50	chr12:104896400-104897800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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