Variant report

Variant	rs3770679
Chromosome Location	chr2:39477602-39477603
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:39476438..39480963-chr2:39481034..39484561,4	K562	blood:
2	chr2:39476355..39478295-chr2:39480403..39482715,2	MCF-7	breast:

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10196253	0.94[ASN][1000 genomes]
rs11124681	0.89[ASN][1000 genomes]
rs11688998	0.94[ASN][1000 genomes]
rs12623945	1.00[AMR][1000 genomes]
rs17023368	1.00[AMR][1000 genomes]
rs17023504	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17023656	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs17023777	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs3755170	1.00[AMR][1000 genomes]
rs3755175	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3770676	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3770677	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55748017	1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs56833014	0.94[ASN][1000 genomes]
rs57103739	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57232122	1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs58099071	1.00[AMR][1000 genomes]
rs58704884	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs59784621	1.00[AMR][1000 genomes]
rs60192971	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs61480659	1.00[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6544226	0.89[ASN][1000 genomes]
rs7584338	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:22 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv873885	chr2:39200198-39573521	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1010874	chr2:39255376-39604535	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	nsv535649	chr2:39255376-39604535	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
4	nsv531346	chr2:39263225-39606367	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
5	nsv533348	chr2:39264345-39596169	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
6	nsv1014520	chr2:39270598-39596299	Enhancers Active TSS Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
7	nsv535650	chr2:39270598-39596299	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
8	nsv1009379	chr2:39271472-39604535	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
9	nsv581493	chr2:39277851-39547575	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
10	nsv581494	chr2:39277851-39626388	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
11	nsv533456	chr2:39281834-39596298	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
12	esv1832414	chr2:39385155-39588797	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
13	esv1827292	chr2:39385155-39675339	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
14	esv1812828	chr2:39396457-39675339	Flanking Active TSS Strong transcription Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
15	nsv833847	chr2:39410762-39604640	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
16	nsv533445	chr2:39412970-39605266	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
17	esv1830024	chr2:39440552-39588797	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
18	nsv2693	chr2:39468641-39513800	Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
19	nsv873886	chr2:39468676-39573521	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
20	nsv873887	chr2:39468676-39601889	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
21	nsv997934	chr2:39473548-39751029	Enhancers Strong transcription ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
22	esv1809158	chr2:39474679-39588797	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39469200-39478000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr2:39469200-39503800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr2:39469400-39504200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:39469600-39478000	Weak transcription	Gastric	stomach
5	chr2:39471000-39477800	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr2:39471000-39503400	Weak transcription	Rectal Smooth Muscle	rectum
7	chr2:39471200-39477800	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr2:39471200-39478000	Weak transcription	Left Ventricle	heart
9	chr2:39471200-39478200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr2:39471200-39478600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr2:39471200-39479200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr2:39471200-39479400	Weak transcription	Lung	lung
13	chr2:39471200-39480000	Weak transcription	Pancreas	Pancrea
14	chr2:39471200-39480200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr2:39471200-39483800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr2:39471200-39503800	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr2:39471200-39504200	Weak transcription	Esophagus	oesophagus
18	chr2:39471400-39477800	Weak transcription	Brain Hippocampus Middle	brain
19	chr2:39471400-39477800	Weak transcription	Fetal Brain Female	brain
20	chr2:39471400-39477800	Weak transcription	Fetal Stomach	stomach
21	chr2:39471400-39503400	Weak transcription	Right Ventricle	heart
22	chr2:39471600-39478000	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr2:39471800-39477800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr2:39471800-39480400	Weak transcription	Spleen	Spleen
25	chr2:39472000-39477800	Weak transcription	Fetal Intestine Large	intestine
26	chr2:39472600-39478600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr2:39472600-39480200	Weak transcription	Aorta	Aorta
28	chr2:39472600-39504000	Weak transcription	Thymus	Thymus
29	chr2:39472800-39478000	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr2:39472800-39478200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr2:39472800-39478800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr2:39472800-39479400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr2:39472800-39481000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
34	chr2:39472800-39492000	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr2:39473000-39478000	Weak transcription	Primary monocytes fromperipheralblood	blood
36	chr2:39473000-39478000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
37	chr2:39473000-39480200	Weak transcription	Primary T helper cells fromperipheralblood	blood
38	chr2:39473000-39482600	Weak transcription	Primary neutrophils fromperipheralblood	blood
39	chr2:39473000-39485600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr2:39473000-39491000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr2:39473000-39492200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr2:39473200-39491400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
43	chr2:39473400-39517400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
44	chr2:39474400-39480600	Weak transcription	NHEK	skin
45	chr2:39474600-39482400	Strong transcription	HSMM	muscle
46	chr2:39474600-39492600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr2:39474600-39494600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr2:39474600-39494600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr2:39474800-39477800	Weak transcription	Colon Smooth Muscle	Colon
50	chr2:39474800-39492600	Weak transcription	Psoas Muscle	Psoas

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