Variant report

Variant	rs2630591
Chromosome Location	chr12:32204816-32204817
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12301583	1.00[MEX][hapmap]
rs12307256	1.00[AMR][1000 genomes]
rs12824940	1.00[AMR][1000 genomes]
rs1684130	0.85[YRI][hapmap];0.88[AFR][1000 genomes]
rs1684131	0.83[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1684140	0.82[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16919127	1.00[MEX][hapmap]
rs2460868	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2630595	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2668286	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2668289	1.00[AMR][1000 genomes]
rs2683498	1.00[AMR][1000 genomes]
rs2683499	1.00[ASW][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];0.85[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2683500	1.00[AMR][1000 genomes]
rs36174223	0.80[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	esv3363806	chr12:31872264-32410283	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS 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	41 gene(s)	inside rSNPs	diseases
2	esv3508621	chr12:31872654-32410593	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	esv3508622	chr12:31872654-32410593	Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	esv3430326	chr12:32142734-32216569	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
5	esv3410287	chr12:32142734-32219420	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
6	nsv976030	chr12:32153446-32307541	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv983498	chr12:32153446-32388092	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS 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	10 gene(s)	inside rSNPs	diseases
8	esv2761731	chr12:32177270-32206870	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32199000-32207200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:32202000-32205800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:32203800-32205600	Enhancers	NHDF-Ad	bronchial
4	chr12:32204000-32205000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr12:32204000-32205200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr12:32204000-32205200	Enhancers	Primary hematopoietic stem cells	blood
7	chr12:32204000-32205200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr12:32204000-32205200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr12:32204000-32205200	Enhancers	Muscle Satellite Cultured Cells	--
10	chr12:32204000-32205400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr12:32204000-32205400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr12:32204000-32205800	Enhancers	HMEC	breast
13	chr12:32204000-32207000	Enhancers	Fetal Intestine Small	intestine
14	chr12:32204200-32205000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr12:32204200-32205200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr12:32204200-32205400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr12:32204200-32205400	Enhancers	Osteobl	bone
18	chr12:32204200-32206000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr12:32204200-32206800	Enhancers	Fetal Intestine Large	intestine
20	chr12:32204200-32206800	Enhancers	Ovary	ovary
21	chr12:32204200-32207600	Enhancers	K562	blood
22	chr12:32204400-32205000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr12:32204400-32205000	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr12:32204400-32205000	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr12:32204400-32205000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr12:32204400-32205000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr12:32204400-32205000	Enhancers	Colon Smooth Muscle	Colon
28	chr12:32204400-32205000	Enhancers	Fetal Kidney	kidney
29	chr12:32204400-32205000	Enhancers	NHLF	lung
30	chr12:32204400-32205200	Enhancers	Fetal Stomach	stomach
31	chr12:32204600-32205000	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr12:32204600-32205000	Enhancers	Rectal Smooth Muscle	rectum
33	chr12:32204600-32205200	Enhancers	Hela-S3	cervix
34	chr12:32204600-32205400	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr12:32204600-32205400	Enhancers	HepG2	liver
36	chr12:32204600-32205800	Enhancers	Fetal Heart	heart
37	chr12:32204800-32205000	Enhancers	Right Atrium	heart
38	chr12:32204800-32205200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr12:32204800-32205200	Flanking Active TSS	A549	lung
40	chr12:32204800-32205200	Enhancers	NH-A	brain
41	chr12:32204800-32205200	Enhancers	NHEK	skin
42	chr12:32204800-32205400	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr12:32204800-32205400	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr12:32204800-32205600	Enhancers	Pancreatic Islets	Pancreatic Islet
45	chr12:32204800-32206400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr12:32204800-32207000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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