Variant report

Variant	rs9292646
Chromosome Location	chr5:36907030-36907031
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	chr5:36906209..36908902-chr5:36936450..36938338,2	K562	blood:

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10041439	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10044651	0.94[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10053695	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10056607	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10214226	1.00[MEX][hapmap]
rs10223124	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11956853	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1389861	0.94[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs149459	1.00[ASW][hapmap];0.80[LWK][hapmap];1.00[MEX][hapmap]
rs150537	0.94[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs159750	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.94[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs159754	1.00[ASW][hapmap];0.96[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.94[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs159911	1.00[AMR][1000 genomes]
rs159912	1.00[AMR][1000 genomes]
rs28408500	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs294690	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs294691	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.94[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs294692	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs294693	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs294696	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs294698	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs297538	0.94[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs298970	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs300047	1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.94[YRI][hapmap];1.00[AMR][1000 genomes]
rs300048	1.00[AMR][1000 genomes]
rs300056	0.94[YRI][hapmap];1.00[AMR][1000 genomes]
rs300057	1.00[AMR][1000 genomes]
rs300059	1.00[AMR][1000 genomes]
rs301858	1.00[AMR][1000 genomes]
rs301900	1.00[ASW][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.93[YRI][hapmap];1.00[AMR][1000 genomes]
rs391366	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs463041	0.93[YRI][hapmap];1.00[AMR][1000 genomes]
rs55786650	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59774526	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6863784	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.94[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73750906	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73750908	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7702256	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7724311	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.94[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7735990	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9764719	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv492319	chr5:36570707-37061019	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised 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	53 gene(s)	inside rSNPs	diseases
2	nsv525478	chr5:36804225-37349895	Strong transcription Transcr. at gene 5' and 3' Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
3	esv1793961	chr5:36866835-37361728	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
4	nsv530225	chr5:36886635-37331912	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
5	nsv830264	chr5:36887002-36941494	Strong transcription Enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1024051	chr5:36899712-37303001	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
7	nsv537725	chr5:36899712-37303001	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
8	nsv530226	chr5:36906377-37606367	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:36886600-36909200	Weak transcription	Left Ventricle	heart
2	chr5:36886600-36910400	Weak transcription	Ovary	ovary
3	chr5:36888200-36910400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr5:36888800-36911000	Weak transcription	Fetal Lung	lung
5	chr5:36895800-36918800	Weak transcription	Small Intestine	intestine
6	chr5:36895800-36928600	Weak transcription	HSMM	muscle
7	chr5:36896200-36908000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr5:36898000-36907200	Weak transcription	Stomach Mucosa	stomach
9	chr5:36899000-36926400	Weak transcription	Gastric	stomach
10	chr5:36900200-36908400	Weak transcription	Colon Smooth Muscle	Colon
11	chr5:36901000-36908800	Weak transcription	Fetal Heart	heart
12	chr5:36902000-36911400	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr5:36902600-36912800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr5:36902800-36908200	Weak transcription	Brain Hippocampus Middle	brain
15	chr5:36902800-36912600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr5:36903600-36908400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr5:36903800-36919200	Weak transcription	K562	blood
18	chr5:36904200-36914600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr5:36905000-36909800	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr5:36905000-36919400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr5:36905200-36907800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr5:36905200-36908200	Weak transcription	Primary hematopoietic stem cells	blood
23	chr5:36905200-36908800	Weak transcription	Right Ventricle	heart
24	chr5:36905200-36908800	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr5:36905200-36914200	Weak transcription	Primary B cells from peripheral blood	blood
26	chr5:36905200-36914200	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr5:36905200-36914400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr5:36905200-36920000	Weak transcription	Primary B cells from cord blood	blood
29	chr5:36905200-36927800	Weak transcription	Psoas Muscle	Psoas
30	chr5:36905600-36908000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr5:36906200-36909600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
32	chr5:36906600-36907400	Enhancers	Pancreatic Islets	Pancreatic Islet
33	chr5:36906600-36915000	Enhancers	Primary T helper cells PMA-I stimulated	--
34	chr5:36906800-36909400	Enhancers	Primary T regulatory cells fromperipheralblood	blood
35	chr5:36906800-36912600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
36	chr5:36906800-36916200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr5:36907000-36907200	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr5:36907000-36907200	Enhancers	Brain Inferior Temporal Lobe	brain
39	chr5:36907000-36907400	Enhancers	Brain Anterior Caudate	brain
40	chr5:36907000-36907400	Enhancers	Sigmoid Colon	Sigmoid Colon
41	chr5:36907000-36907400	Enhancers	A549	lung
42	chr5:36907000-36907600	Enhancers	Primary T helper naive cells from peripheral blood	blood
43	chr5:36907000-36908200	Enhancers	GM12878-XiMat	blood
44	chr5:36907000-36908400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
45	chr5:36907000-36909200	Enhancers	Primary T cells from cord blood	blood

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