Variant report

Variant	rs1797699
Chromosome Location	chr12:65037483-65037484
allele	A/C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:65002607..65004645-chr12:65035889..65038104,2	K562	blood:

Variant related genes	Relation type
ENSG00000256670	Chromatin interaction
ENSG00000153179	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10748011	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11175496	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1147097	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1147104	0.97[EUR][1000 genomes]
rs1147106	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[YRI][hapmap];0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1244870	0.81[ASN][1000 genomes]
rs1244871	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1244872	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1244881	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1245170	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1261879	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1264239	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1270430	0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1520766	0.85[EUR][1000 genomes]
rs1690261	0.92[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1716497	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1716518	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1795614	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1795617	0.93[EUR][1000 genomes]
rs1797690	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2682713	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2682717	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2682721	0.92[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[YRI][hapmap];0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4264239	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs572046	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs577303	0.91[CEU][hapmap];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7307999	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7308397	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832443	chr12:64878856-65057265	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv832444	chr12:64981484-65168472	Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers 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 miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv559203	chr12:65002969-65199922	Genic enhancers Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv1045216	chr12:65009102-65176894	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv541513	chr12:65009102-65176894	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking 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 miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv469457	chr12:65009243-65195977	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv559204	chr12:65009243-65195977	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
8	nsv438218	chr12:65017844-65037483	Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	esv3497186	chr12:65036689-65037905	Weak transcription Flanking Active TSS Enhancers Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
10	esv3497197	chr12:65036800-65037807	Enhancers Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:65019800-65047400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr12:65021400-65043400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr12:65021800-65038000	Weak transcription	Ovary	ovary
4	chr12:65022400-65039600	Weak transcription	Osteobl	bone
5	chr12:65025000-65059600	Weak transcription	Thymus	Thymus
6	chr12:65025200-65044000	Weak transcription	Fetal Muscle Trunk	muscle
7	chr12:65026400-65043200	Weak transcription	Fetal Stomach	stomach
8	chr12:65027400-65041800	Weak transcription	Spleen	Spleen
9	chr12:65027800-65047600	Weak transcription	Psoas Muscle	Psoas
10	chr12:65028200-65047400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr12:65028400-65038600	Weak transcription	Rectal Smooth Muscle	rectum
12	chr12:65028400-65047400	Weak transcription	NHDF-Ad	bronchial
13	chr12:65028400-65047400	Weak transcription	NHLF	lung
14	chr12:65028600-65056400	Weak transcription	NHEK	skin
15	chr12:65029000-65041800	Weak transcription	Left Ventricle	heart
16	chr12:65029200-65039800	Enhancers	Primary T cells fromperipheralblood	blood
17	chr12:65029200-65041000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr12:65029200-65041600	Weak transcription	Fetal Muscle Leg	muscle
19	chr12:65029400-65038000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr12:65029600-65037600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr12:65029600-65038200	Weak transcription	Right Atrium	heart
22	chr12:65029600-65042600	Enhancers	Primary T helper cells fromperipheralblood	blood
23	chr12:65029600-65044000	Weak transcription	Fetal Lung	lung
24	chr12:65031000-65047600	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr12:65031200-65040000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr12:65031200-65043400	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr12:65031200-65043600	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr12:65031200-65043800	Weak transcription	Fetal Intestine Small	intestine
29	chr12:65031400-65042600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr12:65031400-65043400	Weak transcription	Small Intestine	intestine
31	chr12:65031600-65038200	Weak transcription	Gastric	stomach
32	chr12:65032200-65040000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
33	chr12:65032200-65040600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
34	chr12:65032600-65041800	Weak transcription	Fetal Heart	heart
35	chr12:65032800-65038000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr12:65033000-65041800	Weak transcription	Stomach Smooth Muscle	stomach
37	chr12:65033000-65052600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr12:65033400-65043200	Weak transcription	HepG2	liver
39	chr12:65033400-65043400	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr12:65033600-65038200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr12:65033600-65059400	Weak transcription	Primary hematopoietic stem cells	blood
42	chr12:65033800-65037600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr12:65033800-65037800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr12:65033800-65038600	Weak transcription	K562	blood
45	chr12:65033800-65043800	Weak transcription	Duodenum Mucosa	Duodenum
46	chr12:65034000-65042000	Weak transcription	Monocytes-CD14+_RO01746	blood
47	chr12:65034000-65043600	Weak transcription	Primary B cells from cord blood	blood
48	chr12:65034200-65037600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr12:65034200-65043600	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr12:65034400-65041000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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