Variant report

Variant	rs895438
Chromosome Location	chr2:98382886-98382887
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NFIC	chr2:98382162-98382910	ECC-1	luminal epithelium:	n/a	n/a
2	CEBPB	chr2:98382377-98382902	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:98382337..98383997-chr2:98389933..98392351,2	K562	blood:

Variant related genes	Relation type
TMEM131	TF binding region

Extended variants
information (count: 72 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs11678558	0.91[CEU][hapmap];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11678591	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11679828	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11680018	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11680321	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11680883	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11681535	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11684749	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11686881	0.91[CEU][hapmap];0.87[TSI][hapmap];0.82[EUR][1000 genomes]
rs11687510	0.87[CEU][hapmap];0.81[TSI][hapmap]
rs11688829	1.00[CEU][hapmap];0.92[GIH][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11690687	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11690737	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11691494	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11692010	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11692470	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11692671	0.84[EUR][1000 genomes]
rs12052222	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12104810	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12988571	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs12995673	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13004090	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13006932	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13008968	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13020776	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13023980	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs13028954	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs13032265	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13033383	0.91[CEU][hapmap];1.00[CHD][hapmap];0.92[MEX][hapmap];0.81[TSI][hapmap]
rs13034929	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1470483	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17488834	0.91[CEU][hapmap];0.82[EUR][1000 genomes]
rs17488897	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17489287	0.88[GIH][hapmap]
rs17489454	1.00[CEU][hapmap];0.92[GIH][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17489915	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17489984	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17490429	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1838797	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1875699	1.00[CEU][hapmap]
rs2044458	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2044459	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2084176	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2278700	1.00[CEU][hapmap];0.92[GIH][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2305143	1.00[CEU][hapmap];0.92[GIH][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2871183	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs3192177	0.91[CEU][hapmap];0.92[MEX][hapmap];0.87[TSI][hapmap];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs34149969	0.90[EUR][1000 genomes]
rs34373359	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34502870	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34528940	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34654057	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs34974566	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35218942	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs35424768	0.98[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35505530	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4311104	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4851462	0.85[EUR][1000 genomes]
rs55776387	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs55886305	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs58546246	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs62156511	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6710088	0.87[AMR][1000 genomes]
rs6711101	1.00[CEU][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6738389	1.00[CEU][hapmap];0.89[GIH][hapmap];1.00[MEX][hapmap];0.94[TSI][hapmap];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6746768	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6748124	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs6757357	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs71412824	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs717417	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7421146	0.90[CEU][hapmap];0.90[AMR][1000 genomes];0.87[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	nsv531382	chr2:98250628-98457616	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs895438	ACTR1B	cis	Artery Tibial	GTEx
rs895438	ACTR1B	cis	Esophagus Muscularis	GTEx
rs895438	ZNF514	cis	cerebellum	SCAN

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98352200-98398800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr2:98366200-98400000	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr2:98366400-98384600	Strong transcription	Rectal Mucosa Donor 29	rectum
4	chr2:98367200-98385000	Strong transcription	Primary B cells from peripheral blood	blood
5	chr2:98368000-98393800	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr2:98368400-98383600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr2:98368600-98413000	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr2:98369600-98398800	Strong transcription	Fetal Muscle Leg	muscle
9	chr2:98369800-98384800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr2:98370200-98392600	Strong transcription	Cortex derived primary cultured neurospheres	brain
11	chr2:98370400-98383600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr2:98370400-98386400	Strong transcription	Fetal Intestine Small	intestine
13	chr2:98370600-98384400	Strong transcription	Fetal Muscle Trunk	muscle
14	chr2:98370600-98384400	Strong transcription	Placenta	Placenta
15	chr2:98370600-98392400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:98370600-98393800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr2:98370600-98407600	Weak transcription	HUVEC	blood vessel
18	chr2:98370800-98384200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr2:98370800-98384400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr2:98370800-98384400	Strong transcription	Fetal Stomach	stomach
21	chr2:98371000-98383000	Strong transcription	Brain Angular Gyrus	brain
22	chr2:98371000-98383000	Strong transcription	Duodenum Smooth Muscle	Duodenum
23	chr2:98371000-98383400	Strong transcription	Brain Cingulate Gyrus	brain
24	chr2:98371000-98384800	Strong transcription	Fetal Intestine Large	intestine
25	chr2:98371200-98383000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
26	chr2:98371200-98383000	Strong transcription	Brain Anterior Caudate	brain
27	chr2:98371200-98383000	Strong transcription	Brain Inferior Temporal Lobe	brain
28	chr2:98371200-98383200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr2:98371200-98383400	Strong transcription	Colonic Mucosa	Colon
30	chr2:98371200-98384400	Strong transcription	Sigmoid Colon	Sigmoid Colon
31	chr2:98371200-98384400	Strong transcription	Stomach Smooth Muscle	stomach
32	chr2:98371200-98387400	Strong transcription	Liver	Liver
33	chr2:98371200-98398600	Strong transcription	Primary B cells from cord blood	blood
34	chr2:98371400-98383400	Strong transcription	Brain Hippocampus Middle	brain
35	chr2:98371400-98383400	Strong transcription	Fetal Brain Female	brain
36	chr2:98371400-98383400	Strong transcription	Dnd41	blood
37	chr2:98371800-98384200	Strong transcription	Thymus	Thymus
38	chr2:98371800-98384400	Strong transcription	NHLF	lung
39	chr2:98372200-98384600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr2:98372400-98384400	Strong transcription	HepG2	liver
41	chr2:98372600-98383800	Weak transcription	Right Atrium	heart
42	chr2:98373200-98384400	Strong transcription	Ovary	ovary
43	chr2:98373200-98384400	Strong transcription	Pancreas	Pancrea
44	chr2:98373400-98383400	Strong transcription	Rectal Smooth Muscle	rectum
45	chr2:98373400-98383600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr2:98373400-98384400	Strong transcription	Aorta	Aorta
47	chr2:98373800-98390400	Weak transcription	K562	blood
48	chr2:98374400-98383200	Strong transcription	Colon Smooth Muscle	Colon
49	chr2:98374600-98383000	Strong transcription	Fetal Lung	lung
50	chr2:98374800-98383200	Strong transcription	Placenta Amnion	Placenta Amnion

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