Variant report

Variant	rs17034914
Chromosome Location	chr12:104321673-104321674
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr12:104320197-104321725	GM12892	blood:	n/a	n/a
2	POLR2A	chr12:104320257-104326275	GM12878	blood:	n/a	n/a
3	POLR2A	chr12:104320260-104321787	GM12892	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr12:104318629..104321873-chr12:104322068..104323964,4	MCF-7	breast:
2	chr12:104320418..104331406-chr12:104346801..104355501,25	MCF-7	breast:
3	chr12:104314809..104316668-chr12:104321304..104323532,2	MCF-7	breast:
4	chr12:104319225..104328292-chr12:104356282..104362179,14	K562	blood:
5	chr12:104309007..104311155-chr12:104321580..104324192,3	K562	blood:
6	chr12:104313655..104316610-chr12:104321073..104323844,5	MCF-7	breast:
7	chr12:104300678..104303599-chr12:104319392..104323559,4	K562	blood:
8	chr12:104294934..104297771-chr12:104321554..104323667,2	MCF-7	breast:

No data

Variant related genes	Relation type
MIR3652	TF binding region
HSP90B1	TF binding region
ENSG00000204954	Chromatin interaction
ENSG00000139372	Chromatin interaction
ENSG00000166598	Chromatin interaction
ENSG00000214198	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10778306	0.88[JPT][hapmap];0.83[ASN][1000 genomes]
rs11111845	0.89[JPT][hapmap];0.83[ASN][1000 genomes]
rs11612613	0.94[CHB][hapmap];1.00[JPT][hapmap]
rs12426161	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs12426382	0.82[CHB][hapmap]
rs12427041	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12582800	0.94[CEU][hapmap];0.94[CHB][hapmap];0.93[JPT][hapmap];1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs12582917	1.00[CHB][hapmap];0.88[JPT][hapmap]
rs17034880	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17034911	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17034946	1.00[AFR][1000 genomes]
rs17180749	1.00[CEU][hapmap]
rs17795947	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs1882019	1.00[AFR][1000 genomes]
rs2576942	0.88[JPT][hapmap]
rs2722189	0.88[JPT][hapmap]
rs3751207	1.00[AFR][1000 genomes]
rs3751208	1.00[AFR][1000 genomes]
rs3829300	1.00[AFR][1000 genomes]
rs4135060	1.00[AFR][1000 genomes]
rs4135076	1.00[AFR][1000 genomes]
rs4135078	1.00[AFR][1000 genomes]
rs4135082	1.00[AFR][1000 genomes]
rs4135085	1.00[AFR][1000 genomes]
rs4135086	1.00[AFR][1000 genomes]
rs4135087	1.00[AFR][1000 genomes]
rs4135094	1.00[AFR][1000 genomes]
rs4135095	1.00[AFR][1000 genomes]
rs55919036	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs56040534	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59879726	0.82[ASN][1000 genomes]
rs60534873	1.00[AFR][1000 genomes]
rs6615	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs728167	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs9788014	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9788136	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv560039	chr12:104177668-104455340	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104317200-104322600	Weak transcription	Aorta	Aorta
2	chr12:104317400-104322200	Weak transcription	Brain Anterior Caudate	brain
3	chr12:104318000-104322400	Weak transcription	Brain Substantia Nigra	brain
4	chr12:104318200-104322200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr12:104318800-104322000	Weak transcription	NHLF	lung
6	chr12:104319000-104322000	Enhancers	Fetal Thymus	thymus
7	chr12:104319200-104322200	Weak transcription	NHDF-Ad	bronchial
8	chr12:104319200-104322400	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr12:104319400-104321800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr12:104319400-104322000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr12:104319400-104322000	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr12:104319400-104322000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr12:104319400-104322200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr12:104319400-104322200	Weak transcription	A549	lung
15	chr12:104319400-104322400	Weak transcription	Osteobl	bone
16	chr12:104319400-104322600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr12:104319400-104323000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr12:104319600-104322000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr12:104319600-104322000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr12:104319600-104322200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr12:104319600-104322200	Weak transcription	HMEC	breast
22	chr12:104319600-104322400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr12:104319600-104322400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr12:104319600-104322400	Weak transcription	HSMM	muscle
25	chr12:104319600-104322400	Weak transcription	NHEK	skin
26	chr12:104319600-104322600	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr12:104319600-104322600	Weak transcription	HSMMtube	muscle
28	chr12:104319800-104322600	Weak transcription	NH-A	brain
29	chr12:104320200-104322400	Enhancers	Primary T cells fromperipheralblood	blood
30	chr12:104320600-104322000	Enhancers	Primary T helper cells PMA-I stimulated	--
31	chr12:104320800-104322600	Enhancers	Psoas Muscle	Psoas
32	chr12:104320800-104322800	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr12:104321000-104322000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr12:104321200-104322000	Enhancers	Primary T killer memory cells from peripheral blood	blood
35	chr12:104321200-104322000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr12:104321200-104322000	Enhancers	Dnd41	blood
37	chr12:104321200-104322200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
38	chr12:104321200-104322200	Enhancers	Primary T helper naive cells from peripheral blood	blood
39	chr12:104321200-104322200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
40	chr12:104321200-104322200	Enhancers	Thymus	Thymus
41	chr12:104321200-104322200	Flanking Active TSS	GM12878-XiMat	blood
42	chr12:104321200-104322400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
43	chr12:104321200-104322400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
44	chr12:104321200-104322400	Enhancers	Adipose Nuclei	Adipose
45	chr12:104321200-104322400	Enhancers	Colonic Mucosa	Colon
46	chr12:104321200-104322400	Enhancers	Fetal Muscle Leg	muscle
47	chr12:104321200-104322600	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr12:104321400-104322000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
49	chr12:104321400-104322200	Enhancers	Primary B cells from peripheral blood	blood
50	chr12:104321400-104322200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--

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