Variant report

Variant	rs11613629
Chromosome Location	chr12:104972977-104972978
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:104972360..104974228-chr12:104993153..104995574,2	K562	blood:
2	chr12:104897397..104899517-chr12:104972120..104975034,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11112029	1.00[MEX][hapmap]
rs57895815	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73386208	0.96[EUR][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	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
2	nsv1035364	chr12:104948307-105003705	Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	4 gene(s)	inside rSNPs	diseases

mRNA abundance (count:5)

SNP	Gene	Cis/trans	Tissue	Source
rs11613629	CXCL9	trans	brain	seeQTL
rs11613629	GBP4	trans	brain	seeQTL
rs11613629	IFI44L	trans	brain	seeQTL
rs11613629	IFIH1	trans	brain	seeQTL
rs11613629	IL32	trans	brain	seeQTL

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104950000-104978800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr12:104963400-104974800	Weak transcription	Gastric	stomach
3	chr12:104964200-104974800	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr12:104964200-104976000	Weak transcription	Primary T cells from cord blood	blood
5	chr12:104965200-104975400	Weak transcription	Placenta	Placenta
6	chr12:104965400-104982200	Weak transcription	Left Ventricle	heart
7	chr12:104968800-104974200	Enhancers	Primary T cells fromperipheralblood	blood
8	chr12:104968800-104977400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr12:104968800-104977400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr12:104969000-104973400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr12:104969000-104977400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr12:104969000-104978000	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr12:104969600-104974800	Weak transcription	Pancreas	Pancrea
14	chr12:104969800-104973800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr12:104969800-104974600	Enhancers	Primary T helper naive cells from peripheral blood	blood
16	chr12:104970000-104977200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
17	chr12:104970200-104975400	Weak transcription	Thymus	Thymus
18	chr12:104970400-104973800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr12:104970400-104975000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr12:104970400-104978400	Enhancers	Fetal Thymus	thymus
21	chr12:104970600-104973200	Enhancers	NHLF	lung
22	chr12:104970600-104973400	Weak transcription	Primary B cells from cord blood	blood
23	chr12:104970600-104973600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr12:104970600-104973600	Enhancers	GM12878-XiMat	blood
25	chr12:104970600-104974000	Enhancers	HSMM	muscle
26	chr12:104970600-104974200	Enhancers	NHDF-Ad	bronchial
27	chr12:104970800-104973000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr12:104971000-104973000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr12:104971000-104973000	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr12:104971000-104973200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr12:104971000-104990600	Weak transcription	Lung	lung
32	chr12:104971200-104974200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr12:104971200-104976200	Enhancers	Duodenum Mucosa	Duodenum
34	chr12:104971400-104973400	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr12:104971400-104974400	Enhancers	Primary T killer memory cells from peripheral blood	blood
36	chr12:104971400-104974800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr12:104971400-104977000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
38	chr12:104971400-104979400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr12:104971600-104973200	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr12:104971600-104973600	Weak transcription	Fetal Stomach	stomach
41	chr12:104971600-104973600	Genic enhancers	Dnd41	blood
42	chr12:104971600-104974600	Enhancers	Primary T helper cells PMA-I stimulated	--
43	chr12:104971600-104974600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr12:104971600-104976000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
45	chr12:104971600-104982200	Weak transcription	Right Atrium	heart
46	chr12:104971800-104973000	Flanking Active TSS	Osteobl	bone
47	chr12:104971800-104977600	Enhancers	Cortex derived primary cultured neurospheres	brain
48	chr12:104972200-104973200	Enhancers	Placenta Amnion	Placenta Amnion
49	chr12:104972200-104973400	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr12:104972200-104973400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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