Variant report

Variant	rs6759741
Chromosome Location	chr2:161037913-161037914
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs60483927	0.84[AFR][1000 genomes]
rs61402265	0.84[AFR][1000 genomes]
rs6735398	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72994774	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72994789	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72994799	0.96[AFR][1000 genomes]
rs72996703	0.96[AFR][1000 genomes]
rs73008720	1.00[AMR][1000 genomes]
rs73008728	1.00[AMR][1000 genomes]
rs73008730	1.00[AMR][1000 genomes]
rs73008800	1.00[AMR][1000 genomes]
rs73010545	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73012621	1.00[AMR][1000 genomes]
rs7587638	0.84[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv459929	chr2:160963603-161079435	Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv583497	chr2:160963603-161079435	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv875346	chr2:160965335-161044155	Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv1001502	chr2:160967864-161079450	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:160994600-161038000	Weak transcription	Fetal Muscle Trunk	muscle
2	chr2:161024000-161051000	Weak transcription	HSMMtube	muscle
3	chr2:161025600-161051000	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr2:161027200-161051400	Weak transcription	Gastric	stomach
5	chr2:161029200-161051000	Weak transcription	HSMM	muscle
6	chr2:161029400-161063200	Weak transcription	Fetal Muscle Leg	muscle
7	chr2:161035400-161043800	Weak transcription	HMEC	breast
8	chr2:161036800-161038400	Strong transcription	NHEK	skin
9	chr2:161037000-161038200	Enhancers	Stomach Mucosa	stomach
10	chr2:161037000-161038400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr2:161037000-161038400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr2:161037000-161038400	Enhancers	Skeletal Muscle Male	skeletal muscle
13	chr2:161037200-161038000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
14	chr2:161037200-161038000	Enhancers	H9 Cell Line	embryonic stem cell
15	chr2:161037200-161038200	Active TSS	ES-I3 Cell Line	embryonic stem cell
16	chr2:161037200-161038200	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr2:161037200-161038200	Enhancers	iPS-20b Cell Line	embryonic stem cell
18	chr2:161037200-161038200	Enhancers	HUVEC	blood vessel
19	chr2:161037200-161038400	Enhancers	H1 Cell Line	embryonic stem cell
20	chr2:161037200-161038400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr2:161037200-161038400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
22	chr2:161037200-161038400	Enhancers	Fetal Thymus	thymus
23	chr2:161037200-161038800	Enhancers	Primary T helper cells PMA-I stimulated	--
24	chr2:161037200-161038800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr2:161037400-161038000	Enhancers	Primary T cells from cord blood	blood
26	chr2:161037400-161038000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
27	chr2:161037400-161038200	Enhancers	HUES48 Cell Line	embryonic stem cell
28	chr2:161037400-161038200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
29	chr2:161037400-161038200	Enhancers	Primary hematopoietic stem cells	blood
30	chr2:161037400-161038200	Enhancers	Primary hematopoietic stem cells short term culture	blood
31	chr2:161037400-161038200	Enhancers	Duodenum Mucosa	Duodenum
32	chr2:161037400-161038200	Enhancers	Fetal Intestine Large	intestine
33	chr2:161037400-161038200	Enhancers	Pancreas	Pancrea
34	chr2:161037400-161038400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr2:161037400-161038400	Enhancers	Primary T helper naive cells from peripheral blood	blood
36	chr2:161037400-161038400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
37	chr2:161037400-161038400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
38	chr2:161037400-161038400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr2:161037400-161038400	Enhancers	Placenta Amnion	Placenta Amnion
40	chr2:161037400-161038400	Enhancers	Rectal Mucosa Donor 31	rectum
41	chr2:161037400-161038400	Enhancers	Sigmoid Colon	Sigmoid Colon
42	chr2:161037400-161038600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
43	chr2:161037400-161038600	Enhancers	Primary T helper cells fromperipheralblood	blood
44	chr2:161037400-161038600	Enhancers	Primary T killer memory cells from peripheral blood	blood
45	chr2:161037400-161038600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr2:161037400-161038800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
47	chr2:161037600-161038000	Active TSS	HUES64 Cell Line	embryonic stem cell
48	chr2:161037600-161038000	Active TSS	iPS-15b Cell Line	embryonic stem cell
49	chr2:161037600-161038000	Active TSS	A549	lung
50	chr2:161037600-161038000	Enhancers	NH-A	brain

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