Variant report

Variant	rs4849123
Chromosome Location	chr2:113569039-113569040
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	chr2:113554665..113556955-chr2:113568287..113571042,2	K562	blood:
2	chr2:113519926..113522367-chr2:113568857..113570808,2	K562	blood:

Variant related genes	Relation type
ENSG00000169607	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11680809	1.00[ASN][1000 genomes]
rs17042407	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs17598291	0.80[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];1.00[TSI][hapmap];0.82[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62157427	0.88[ASN][1000 genomes]
rs62157428	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs62157429	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs62157430	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs62157431	0.84[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs62157435	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6710316	0.80[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs6716046	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs6746923	0.85[CHD][hapmap]
rs7585707	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4849123	IL1B	cis	lymphoblastoid	seeQTL
rs4849123	ZC3H8	cis	parietal	SCAN

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:113563400-113569200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:113563600-113569200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:113566400-113572400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
4	chr2:113566600-113569200	Weak transcription	Small Intestine	intestine
5	chr2:113567200-113569400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr2:113567400-113569200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr2:113567400-113569200	Weak transcription	Brain Cingulate Gyrus	brain
8	chr2:113567400-113569400	Weak transcription	Liver	Liver
9	chr2:113567400-113570000	Weak transcription	Brain Hippocampus Middle	brain
10	chr2:113567400-113575800	Weak transcription	Brain Substantia Nigra	brain
11	chr2:113568400-113572200	Enhancers	HUVEC	blood vessel
12	chr2:113568400-113573000	Enhancers	HepG2	liver
13	chr2:113568600-113571600	Enhancers	NHEK	skin
14	chr2:113568600-113575000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr2:113568600-113575200	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr2:113568800-113569800	Enhancers	Primary neutrophils fromperipheralblood	blood
17	chr2:113568800-113570200	Enhancers	Primary hematopoietic stem cells	blood
18	chr2:113568800-113570400	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr2:113568800-113570400	Enhancers	Hela-S3	cervix
20	chr2:113568800-113571000	Enhancers	Spleen	Spleen
21	chr2:113568800-113571000	Enhancers	NHLF	lung
22	chr2:113568800-113571800	Enhancers	Adipose Nuclei	Adipose
23	chr2:113568800-113572000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr2:113568800-113572200	Enhancers	HMEC	breast
25	chr2:113568800-113572400	Enhancers	NH-A	brain
26	chr2:113568800-113572400	Enhancers	NHDF-Ad	bronchial
27	chr2:113569000-113569200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr2:113569000-113569400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr2:113569000-113569400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr2:113569000-113569400	Weak transcription	Fetal Lung	lung
31	chr2:113569000-113569400	Enhancers	Pancreas	Pancrea
32	chr2:113569000-113569400	Enhancers	Right Atrium	heart
33	chr2:113569000-113569400	Enhancers	Right Ventricle	heart
34	chr2:113569000-113569400	Enhancers	GM12878-XiMat	blood
35	chr2:113569000-113569600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
36	chr2:113569000-113569800	Enhancers	Primary hematopoietic stem cells short term culture	blood
37	chr2:113569000-113569800	Enhancers	Gastric	stomach
38	chr2:113569000-113570200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr2:113569000-113570200	Enhancers	Colonic Mucosa	Colon
40	chr2:113569000-113570400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
41	chr2:113569000-113570400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr2:113569000-113570400	Enhancers	Sigmoid Colon	Sigmoid Colon
43	chr2:113569000-113570600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr2:113569000-113570600	Enhancers	Left Ventricle	heart
45	chr2:113569000-113570600	Enhancers	Lung	lung
46	chr2:113569000-113570800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr2:113569000-113570800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
48	chr2:113569000-113570800	Enhancers	Duodenum Smooth Muscle	Duodenum
49	chr2:113569000-113570800	Enhancers	Esophagus	oesophagus
50	chr2:113569000-113571000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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