Variant report

Variant	rs2620721
Chromosome Location	chr12:65027511-65027512
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:65026550..65029198-chr12:65038213..65040878,2	K562	blood:
2	chr12:65002843..65006051-chr12:65023812..65028025,5	MCF-7	breast:
3	chr12:65017967..65023597-chr12:65023649..65027949,8	MCF-7	breast:
4	chr12:65006929..65009756-chr12:65024584..65028826,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000256670	Chromatin interaction
ENSG00000153179	Chromatin interaction
ENSG00000225195	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs1245173	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36069931	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][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	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

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:65006800-65031800	Weak transcription	Dnd41	blood
2	chr12:65018400-65029200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr12:65018600-65035000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr12:65019600-65027800	Weak transcription	Pancreas	Pancrea
5	chr12:65019800-65028400	Weak transcription	Colonic Mucosa	Colon
6	chr12:65019800-65028600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
7	chr12:65019800-65029200	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr12:65019800-65030600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr12:65019800-65047400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr12:65020600-65028200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr12:65020800-65027800	Weak transcription	Duodenum Mucosa	Duodenum
12	chr12:65021200-65031200	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
13	chr12:65021400-65029600	Genic enhancers	Primary T helper cells fromperipheralblood	blood
14	chr12:65021400-65043400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr12:65021600-65029400	Genic enhancers	Primary T helper cells PMA-I stimulated	--
16	chr12:65021600-65030600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr12:65021800-65027600	Weak transcription	NHEK	skin
18	chr12:65021800-65037000	Weak transcription	Adipose Nuclei	Adipose
19	chr12:65021800-65038000	Weak transcription	Ovary	ovary
20	chr12:65022000-65027600	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr12:65022000-65027800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr12:65022200-65027800	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr12:65022200-65029200	Genic enhancers	Primary T cells fromperipheralblood	blood
24	chr12:65022400-65027600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr12:65022400-65029200	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr12:65022400-65039600	Weak transcription	Osteobl	bone
27	chr12:65023000-65027600	Genic enhancers	Primary B cells from peripheral blood	blood
28	chr12:65023600-65029000	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr12:65023600-65029800	Genic enhancers	Primary T cells from cord blood	blood
30	chr12:65023800-65028000	ZNF genes & repeats	GM12878-XiMat	blood
31	chr12:65024000-65031200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
32	chr12:65024600-65027800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr12:65024600-65028200	Enhancers	Primary T killer memory cells from peripheral blood	blood
34	chr12:65024600-65029200	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr12:65024800-65027600	Weak transcription	NHDF-Ad	bronchial
36	chr12:65024800-65028000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr12:65024800-65031800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
38	chr12:65025000-65028400	Enhancers	Right Atrium	heart
39	chr12:65025000-65059600	Weak transcription	Thymus	Thymus
40	chr12:65025200-65028000	Enhancers	Lung	lung
41	chr12:65025200-65044000	Weak transcription	Fetal Muscle Trunk	muscle
42	chr12:65025400-65027600	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr12:65025400-65028000	Weak transcription	NHLF	lung
44	chr12:65025600-65027600	ZNF genes & repeats	A549	lung
45	chr12:65025600-65028400	Weak transcription	Fetal Muscle Leg	muscle
46	chr12:65025800-65027800	Enhancers	Psoas Muscle	Psoas
47	chr12:65025800-65028000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr12:65025800-65031400	Enhancers	HepG2	liver
49	chr12:65026000-65028000	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr12:65026000-65028200	Enhancers	Primary neutrophils fromperipheralblood	blood

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