Variant report

Variant	rs12622667
Chromosome Location	chr2:149520186-149520187
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	chr2:149519812..149521624-chr2:149544024..149546060,2	K562	blood:

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

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

rs_ID	r²[population]
rs12614977	1.00[ASW][hapmap];0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12623667	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs978509	0.94[CHB][hapmap];0.94[JPT][hapmap];0.81[AMR][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	esv2751831	chr2:149151358-150105603	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv917109	chr2:149198443-149948302	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs12622667	IL18R1	trans	lymphoblastoid	seeQTL

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:149478600-149526800	Weak transcription	Lung	lung
2	chr2:149483400-149523200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr2:149486200-149526800	Weak transcription	Fetal Muscle Leg	muscle
4	chr2:149495200-149542000	Weak transcription	Right Atrium	heart
5	chr2:149497000-149523800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr2:149497400-149520400	Weak transcription	GM12878-XiMat	blood
7	chr2:149498000-149524000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr2:149499600-149525000	Weak transcription	Fetal Kidney	kidney
9	chr2:149500200-149524200	Weak transcription	Fetal Muscle Trunk	muscle
10	chr2:149500200-149541200	Weak transcription	HUVEC	blood vessel
11	chr2:149500400-149524200	Weak transcription	Left Ventricle	heart
12	chr2:149500400-149527200	Weak transcription	Ovary	ovary
13	chr2:149500400-149527600	Weak transcription	Esophagus	oesophagus
14	chr2:149502200-149520800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr2:149502200-149521800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr2:149503000-149521400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr2:149504000-149524600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr2:149504400-149526800	Weak transcription	Colon Smooth Muscle	Colon
19	chr2:149504800-149524200	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr2:149505200-149525200	Weak transcription	Small Intestine	intestine
21	chr2:149505600-149523200	Weak transcription	Fetal Intestine Large	intestine
22	chr2:149508400-149526800	Weak transcription	Fetal Brain Female	brain
23	chr2:149508400-149545400	Weak transcription	Stomach Mucosa	stomach
24	chr2:149508600-149527600	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr2:149508800-149526600	Weak transcription	Rectal Smooth Muscle	rectum
26	chr2:149509400-149526600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr2:149510000-149520400	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr2:149510000-149525200	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr2:149510200-149541000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr2:149510200-149541400	Weak transcription	Fetal Heart	heart
31	chr2:149510600-149523800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr2:149510800-149526400	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr2:149510800-149528400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr2:149510800-149528400	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr2:149510800-149542200	Weak transcription	Aorta	Aorta
36	chr2:149511800-149522600	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr2:149511800-149526600	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr2:149511800-149526800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr2:149511800-149541200	Weak transcription	Brain Germinal Matrix	brain
40	chr2:149512000-149524400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr2:149512000-149526600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr2:149512400-149520200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr2:149512400-149522400	Weak transcription	Liver	Liver
44	chr2:149512400-149524000	Weak transcription	Thymus	Thymus
45	chr2:149512400-149526600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr2:149512400-149528200	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr2:149512400-149534200	Weak transcription	Fetal Stomach	stomach
48	chr2:149512400-149542200	Weak transcription	Psoas Muscle	Psoas
49	chr2:149512600-149520200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr2:149512600-149520200	Weak transcription	Dnd41	blood

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