Variant report

Variant	rs2938484
Chromosome Location	chr17:46319852-46319853
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:46297106..46299092-chr17:46317071..46320031,2	K562	blood:
2	chr17:46304702..46306804-chr17:46316986..46319945,3	K562	blood:
3	chr17:46319745..46321628-chr17:46703138..46705535,2	K562	blood:
4	chr17:46312738..46316050-chr17:46317088..46320426,4	K562	blood:
5	chr17:46316932..46321831-chr17:46322420..46326261,9	K562	blood:
6	chr17:46297106..46299092-chr17:46317071..46320404,3	K562	blood:
7	chr17:46305304..46308204-chr17:46318445..46319954,2	K562	blood:

Variant related genes	Relation type
ENSG00000170689	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10514935	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs12600464	0.94[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.82[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];1.00[TSI][hapmap]
rs12600478	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs1317850	0.83[CHD][hapmap];0.82[JPT][hapmap]
rs2240123	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.82[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs2957935	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8076163	0.86[CHD][hapmap];0.82[JPT][hapmap]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2938484	STAT5B	cis	cerebellum	SCAN
rs2938484	DHX58	cis	parietal	SCAN

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46306600-46335400	Weak transcription	Thymus	Thymus
2	chr17:46314200-46320200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
3	chr17:46315800-46323000	Enhancers	Primary T helper cells PMA-I stimulated	--
4	chr17:46316400-46322800	Enhancers	Primary T killer memory cells from peripheral blood	blood
5	chr17:46316400-46324600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr17:46316600-46320200	Enhancers	Fetal Kidney	kidney
7	chr17:46316600-46320600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr17:46317200-46320000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr17:46317200-46320200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr17:46317200-46322600	Enhancers	Fetal Intestine Small	intestine
11	chr17:46317200-46324000	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr17:46317400-46322400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr17:46317400-46322800	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr17:46317400-46322800	Enhancers	Fetal Intestine Large	intestine
15	chr17:46317600-46320400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr17:46317800-46320000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr17:46317800-46320200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr17:46317800-46320600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
19	chr17:46317800-46323000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr17:46318000-46320000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
21	chr17:46318800-46320000	Enhancers	Primary T cells from cord blood	blood
22	chr17:46318800-46321400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr17:46318800-46321600	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr17:46318800-46322400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr17:46318800-46322600	Enhancers	NHDF-Ad	bronchial
26	chr17:46319000-46321400	Weak transcription	Primary B cells from peripheral blood	blood
27	chr17:46319000-46321400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr17:46319000-46321400	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr17:46319000-46321400	Enhancers	A549	lung
30	chr17:46319000-46321400	Enhancers	K562	blood
31	chr17:46319000-46321600	Weak transcription	Hela-S3	cervix
32	chr17:46319000-46322000	Weak transcription	HSMMtube	muscle
33	chr17:46319000-46322600	Enhancers	GM12878-XiMat	blood
34	chr17:46319000-46324800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr17:46319200-46321400	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr17:46319400-46320400	Weak transcription	Primary hematopoietic stem cells	blood
37	chr17:46319400-46321000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr17:46319400-46321400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr17:46319400-46321600	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr17:46319600-46320000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
41	chr17:46319600-46320400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
42	chr17:46319600-46320400	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr17:46319600-46320800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr17:46319600-46321000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr17:46319600-46321000	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr17:46319600-46321400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
47	chr17:46319600-46321400	Weak transcription	Fetal Lung	lung
48	chr17:46319600-46321400	Weak transcription	HMEC	breast
49	chr17:46319600-46321400	Weak transcription	NH-A	brain
50	chr17:46319600-46321600	Weak transcription	Duodenum Mucosa	Duodenum

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