Variant report

Variant	rs7612646
Chromosome Location	chr3:59996946-59996947
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12497400	1.00[ASW][hapmap];0.86[MEX][hapmap];1.00[AFR][1000 genomes]
rs17061708	0.80[MEX][hapmap]
rs17061716	0.80[MEX][hapmap]
rs17254574	0.80[MEX][hapmap]
rs17255191	1.00[AFR][1000 genomes]
rs62238371	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428085	chr3:59782509-60070116	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1014983	chr3:59884024-60558331	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv590387	chr3:59890976-60481459	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv876838	chr3:59952152-59999690	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	nsv590388	chr3:59957252-60018326	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv590389	chr3:59981525-59998389	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:59993000-59997200	Flanking Active TSS	Primary T cells from cord blood	blood
2	chr3:59995000-59997200	Enhancers	iPS-20b Cell Line	embryonic stem cell
3	chr3:59995200-59997000	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr3:59995200-59997200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
5	chr3:59995200-59997200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
6	chr3:59995200-59997600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
7	chr3:59995600-59997200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
8	chr3:59995600-59998800	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr3:59995800-59997000	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr3:59996000-59997000	Enhancers	H1 Cell Line	embryonic stem cell
11	chr3:59996200-59997000	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr3:59996200-59997000	Flanking Active TSS	Primary hematopoietic stem cells	blood
13	chr3:59996200-59997000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
14	chr3:59996200-59997200	Flanking Active TSS	GM12878-XiMat	blood
15	chr3:59996200-60000800	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr3:59996400-59997000	Active TSS	Primary T cells fromperipheralblood	blood
17	chr3:59996400-59997000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
18	chr3:59996400-59997200	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr3:59996400-59997200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
20	chr3:59996400-59997200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
21	chr3:59996400-59997200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr3:59996400-59997200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr3:59996400-59997800	Flanking Active TSS	Dnd41	blood
24	chr3:59996600-59997000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
25	chr3:59996600-59997000	Flanking Active TSS	Primary B cells from peripheral blood	blood
26	chr3:59996600-59997000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
27	chr3:59996600-59997000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr3:59996600-59997000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
29	chr3:59996600-59997000	Active TSS	Rectal Mucosa Donor 29	rectum
30	chr3:59996600-59997000	Active TSS	Thymus	Thymus
31	chr3:59996800-59997000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
32	chr3:59996800-59997000	Flanking Active TSS	Fetal Thymus	thymus
33	chr3:59996800-59997200	Active TSS	Primary B cells from cord blood	blood
34	chr3:59996800-59997200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
35	chr3:59996800-59997200	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
36	chr3:59996800-59997600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
37	chr3:59996800-60011600	Weak transcription	Placenta Amnion	Placenta Amnion

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