Variant report

Variant	rs7587919
Chromosome Location	chr2:64339899-64339900
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:64339816..64342489-chr2:64352570..64354262,2	K562	blood:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10170601	1.00[AMR][1000 genomes]
rs10178275	1.00[AMR][1000 genomes]
rs10179276	1.00[AMR][1000 genomes]
rs10181595	1.00[AMR][1000 genomes]
rs10189454	0.85[AFR][1000 genomes]
rs10194235	1.00[AMR][1000 genomes]
rs10197962	1.00[AMR][1000 genomes]
rs13384491	1.00[AMR][1000 genomes]
rs13386653	1.00[AMR][1000 genomes]
rs13387854	1.00[AMR][1000 genomes]
rs13391343	1.00[AMR][1000 genomes]
rs13394672	1.00[AMR][1000 genomes]
rs13396651	1.00[AMR][1000 genomes]
rs13402981	1.00[AMR][1000 genomes]
rs13403474	1.00[AMR][1000 genomes]
rs13411468	1.00[AMR][1000 genomes]
rs13415878	1.00[AMR][1000 genomes]
rs13416589	1.00[AMR][1000 genomes]
rs13418689	1.00[AMR][1000 genomes]
rs13422518	1.00[AMR][1000 genomes]
rs13423144	1.00[AMR][1000 genomes]
rs13425328	1.00[AMR][1000 genomes]
rs13425693	1.00[AMR][1000 genomes]
rs13426558	1.00[AMR][1000 genomes]
rs13426789	1.00[AMR][1000 genomes]
rs13427671	1.00[AMR][1000 genomes]
rs13427994	1.00[AMR][1000 genomes]
rs13428769	1.00[AMR][1000 genomes]
rs13429652	1.00[AMR][1000 genomes]
rs13431823	1.00[AMR][1000 genomes]
rs6742704	1.00[AMR][1000 genomes]
rs7579814	0.83[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	nsv531376	chr2:64094322-64521876	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	nsv1013132	chr2:64235175-64631084	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	esv2757803	chr2:64253005-64539556	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	esv2759055	chr2:64253005-64539556	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent Enhancer 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 miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv428396	chr2:64253005-64539556	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	esv34698	chr2:64312142-64521366	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription 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	26 gene(s)	inside rSNPs	diseases
7	esv34955	chr2:64312182-64521290	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
8	nsv834243	chr2:64316514-64476935	ZNF genes & repeats Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:64313200-64341800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:64323400-64341400	Weak transcription	Aorta	Aorta
3	chr2:64323600-64341800	Weak transcription	Right Ventricle	heart
4	chr2:64323600-64364400	Weak transcription	Fetal Brain Male	brain
5	chr2:64323800-64341000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr2:64323800-64341600	Weak transcription	Gastric	stomach
7	chr2:64323800-64341600	Weak transcription	K562	blood
8	chr2:64324000-64341200	Weak transcription	HSMM	muscle
9	chr2:64324000-64341600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr2:64324400-64341600	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr2:64324400-64344800	Weak transcription	HSMMtube	muscle
12	chr2:64325000-64341600	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr2:64329000-64342800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr2:64329200-64341000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr2:64329800-64340200	Genic enhancers	GM12878-XiMat	blood
16	chr2:64332200-64340600	Weak transcription	NH-A	brain
17	chr2:64332600-64341000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr2:64333400-64340800	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr2:64333400-64341600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr2:64333600-64343200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr2:64333800-64340600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr2:64333800-64341400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr2:64334000-64349200	Weak transcription	Fetal Kidney	kidney
24	chr2:64334200-64343200	Weak transcription	Primary hematopoietic stem cells	blood
25	chr2:64334400-64350200	Weak transcription	Fetal Muscle Trunk	muscle
26	chr2:64334800-64341400	Weak transcription	Primary B cells from cord blood	blood
27	chr2:64334800-64346600	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr2:64335000-64343200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr2:64335000-64365200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr2:64335200-64341600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr2:64335200-64348000	Weak transcription	Fetal Muscle Leg	muscle
32	chr2:64335200-64348200	Weak transcription	Placenta	Placenta
33	chr2:64335400-64341600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr2:64335600-64341000	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr2:64335600-64341600	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr2:64335600-64341600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr2:64335600-64343400	Weak transcription	Brain Germinal Matrix	brain
38	chr2:64336000-64340400	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr2:64336000-64341000	Enhancers	Primary T helper cells PMA-I stimulated	--
40	chr2:64336000-64341200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
41	chr2:64336000-64341200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
42	chr2:64336000-64341400	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr2:64336000-64341400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr2:64336000-64344400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
45	chr2:64336200-64340400	Weak transcription	Rectal Smooth Muscle	rectum
46	chr2:64336200-64341600	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr2:64336400-64340600	Weak transcription	Duodenum Mucosa	Duodenum
48	chr2:64336400-64341000	Weak transcription	Fetal Intestine Large	intestine
49	chr2:64336400-64341400	Weak transcription	Primary B cells from peripheral blood	blood
50	chr2:64336400-64341400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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