Variant report

Variant	rs17505250
Chromosome Location	chr2:37317248-37317249
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:37313406..37315182-chr2:37317081..37319850,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10048628	1.00[CHB][hapmap]
rs10167453	1.00[CHB][hapmap];0.85[TSI][hapmap]
rs10177970	1.00[CHB][hapmap]
rs10178975	1.00[CHB][hapmap]
rs10490656	1.00[CHB][hapmap]
rs11124575	1.00[CHB][hapmap]
rs12712530	1.00[CHB][hapmap]
rs13410628	0.83[CEU][hapmap];1.00[CHB][hapmap]
rs17332720	1.00[CHB][hapmap]
rs17498637	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1861444	1.00[CHB][hapmap]
rs2041837	1.00[CHB][hapmap]
rs2041840	1.00[CHB][hapmap]
rs2160395	1.00[CHB][hapmap]
rs2249965	1.00[CHB][hapmap]
rs2372888	1.00[CHB][hapmap]
rs2430494	1.00[CHB][hapmap]
rs2540977	1.00[CHB][hapmap]
rs3770768	0.82[ASW][hapmap];0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[MEX][hapmap];0.83[EUR][1000 genomes]
rs3902740	1.00[CHB][hapmap]
rs4648186	1.00[CHB][hapmap]
rs4670678	1.00[CHB][hapmap]
rs56020915	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7577081	1.00[CHB][hapmap]
rs759461	1.00[CHB][hapmap]
rs8243	1.00[CHB][hapmap]

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	nsv1004483	chr2:36875235-37356812	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv535644	chr2:36875235-37356812	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17505250	MXRA7	trans	lymphoblastoid	seeQTL

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37312000-37320000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:37312200-37320000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:37312200-37320000	Weak transcription	Lung	lung
4	chr2:37312200-37332800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr2:37312200-37346000	Weak transcription	Pancreas	Pancrea
6	chr2:37312200-37383200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:37312400-37319400	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr2:37312400-37320000	Weak transcription	Colonic Mucosa	Colon
9	chr2:37312400-37321200	Weak transcription	Right Ventricle	heart
10	chr2:37312400-37332600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr2:37312400-37332600	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr2:37312600-37319000	Weak transcription	Brain Hippocampus Middle	brain
13	chr2:37312600-37319600	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr2:37312600-37320000	Weak transcription	Ovary	ovary
15	chr2:37312600-37329200	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr2:37312600-37332200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr2:37312600-37332600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr2:37312800-37321000	Weak transcription	Fetal Brain Male	brain
19	chr2:37312800-37321400	Weak transcription	Fetal Kidney	kidney
20	chr2:37313000-37325600	Weak transcription	Fetal Heart	heart
21	chr2:37313200-37320800	Weak transcription	Small Intestine	intestine
22	chr2:37313200-37346000	Weak transcription	Stomach Mucosa	stomach
23	chr2:37313400-37317400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr2:37313400-37318000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr2:37313400-37320000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr2:37313400-37320200	Weak transcription	Colon Smooth Muscle	Colon
27	chr2:37313400-37328000	Weak transcription	Hela-S3	cervix
28	chr2:37313400-37330800	Weak transcription	NHEK	skin
29	chr2:37313400-37361800	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr2:37314000-37317400	Genic enhancers	Primary B cells from peripheral blood	blood
31	chr2:37314000-37317600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
32	chr2:37314000-37317600	Strong transcription	Dnd41	blood
33	chr2:37314000-37318000	Strong transcription	Primary neutrophils fromperipheralblood	blood
34	chr2:37314000-37324400	Strong transcription	Fetal Muscle Trunk	muscle
35	chr2:37314200-37317400	Strong transcription	Brain Angular Gyrus	brain
36	chr2:37314200-37329200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr2:37314200-37331200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr2:37314400-37317600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr2:37314400-37317600	Strong transcription	HSMM	muscle
40	chr2:37314400-37329400	Strong transcription	Fetal Thymus	thymus
41	chr2:37314400-37330600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr2:37314400-37347000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr2:37314600-37317600	Strong transcription	Stomach Smooth Muscle	stomach
44	chr2:37314600-37346800	Strong transcription	Primary T helper cells fromperipheralblood	blood
45	chr2:37314800-37317600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr2:37314800-37317800	Strong transcription	Fetal Muscle Leg	muscle
47	chr2:37314800-37325200	Strong transcription	Osteobl	bone
48	chr2:37314800-37331200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr2:37315000-37338200	Strong transcription	Primary T cells from cord blood	blood
50	chr2:37315200-37317600	Strong transcription	Brain Anterior Caudate	brain

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