Variant report

Variant	rs12301931
Chromosome Location	chr12:63126838-63126839
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:63124722..63127386-chr12:63133174..63134822,2	MCF-7	breast:
2	chr12:62995906..62997656-chr12:63124970..63127361,2	MCF-7	breast:
3	chr12:63125401..63128533-chr12:63129737..63133107,4	K562	blood:
4	chr12:63124068..63127843-chr12:63129952..63132671,4	MCF-7	breast:
5	chr12:63120474..63123125-chr12:63125500..63127400,2	MCF-7	breast:
6	chr12:63124937..63127215-chr12:63127798..63129812,2	MCF-7	breast:
7	chr12:63124938..63126859-chr12:63127392..63129677,2	K562	blood:
8	chr12:63125401..63128193-chr12:63129973..63133107,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000199179	Chromatin interaction
ENSG00000221949	Chromatin interaction
ENSG00000257354	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10128947	1.00[AMR][1000 genomes]
rs11174622	1.00[AMR][1000 genomes]
rs11174624	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11174625	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11829074	1.00[AMR][1000 genomes]
rs11832962	1.00[AMR][1000 genomes]
rs12302158	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12302279	1.00[ASW][hapmap];0.81[LWK][hapmap];0.85[MKK][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12302290	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12302395	1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12306385	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17098575	1.00[ASW][hapmap]
rs57366716	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7295849	1.00[AMR][1000 genomes]
rs73312458	1.00[AMR][1000 genomes]
rs73316275	1.00[AMR][1000 genomes]
rs7955587	0.85[YRI][hapmap]
rs7965725	1.00[AMR][1000 genomes]
rs7978602	1.00[AMR][1000 genomes]
rs9630304	0.85[YRI][hapmap]

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:63096600-63157000	Weak transcription	Pancreas	Pancrea
2	chr12:63114000-63129400	Weak transcription	Liver	Liver
3	chr12:63120000-63131600	Weak transcription	Thymus	Thymus
4	chr12:63121800-63128200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr12:63121800-63133200	Strong transcription	HepG2	liver
6	chr12:63122200-63127600	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr12:63122600-63127200	Enhancers	NH-A	brain
8	chr12:63123000-63152000	Weak transcription	Gastric	stomach
9	chr12:63123200-63127000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr12:63123200-63137400	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr12:63123600-63127000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr12:63123600-63131000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr12:63123600-63131600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr12:63123600-63132400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr12:63124000-63127600	Flanking Active TSS	A549	lung
16	chr12:63124000-63127800	Enhancers	HUVEC	blood vessel
17	chr12:63124200-63131600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr12:63124200-63131800	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr12:63124200-63145400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr12:63124400-63127800	Enhancers	HMEC	breast
21	chr12:63124400-63131200	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr12:63124400-63131600	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr12:63124400-63131600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr12:63124600-63127000	Enhancers	Hela-S3	cervix
25	chr12:63124600-63127200	Enhancers	Duodenum Mucosa	Duodenum
26	chr12:63124600-63127400	Enhancers	NHEK	skin
27	chr12:63124600-63129400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr12:63124600-63132000	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr12:63124800-63127200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr12:63124800-63127200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr12:63125000-63127200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr12:63125000-63127200	Enhancers	Small Intestine	intestine
33	chr12:63125000-63127200	Enhancers	Stomach Mucosa	stomach
34	chr12:63125000-63127400	Enhancers	GM12878-XiMat	blood
35	chr12:63125200-63132400	Weak transcription	Brain Cingulate Gyrus	brain
36	chr12:63125400-63127000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr12:63125400-63127200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr12:63125400-63127200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr12:63125400-63127400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr12:63125400-63127800	Enhancers	HSMMtube	muscle
41	chr12:63125400-63132200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr12:63125600-63127400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr12:63125600-63127400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr12:63125600-63127600	Enhancers	Osteobl	bone
45	chr12:63125600-63127800	Enhancers	Muscle Satellite Cultured Cells	--
46	chr12:63125600-63128600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr12:63125600-63128600	Enhancers	NHDF-Ad	bronchial
48	chr12:63125600-63138400	Weak transcription	Primary hematopoietic stem cells	blood
49	chr12:63125800-63127400	Enhancers	NHLF	lung
50	chr12:63125800-63130000	Weak transcription	Fetal Brain Female	brain

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