Variant report

Variant	rs12632784
Chromosome Location	chr3:156397618-156397619
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:156396908-156397648	IMR90	lung:	n/a	n/a
2	MXI1	chr3:156397495-156397967	GM12878	blood:	n/a	n/a
3	POLR2A	chr3:156397391-156397633	ProgFib	skin:	n/a	n/a
4	POLR2A	chr3:156397028-156397625	K562	blood:	n/a	n/a
5	POLR2A	chr3:156397278-156397641	GM12891	blood:	n/a	n/a
6	CHD1	chr3:156391341-156402336	IMR90	lung:	n/a	chr3:156392500-156392510
7	POLR2A	chr3:156397069-156404423	A549	lung:	n/a	n/a
8	WRNIP1	chr3:156397529-156397639	GM12878	blood:	n/a	n/a
9	POLR2A	chr3:156397410-156397747	GM12891	blood:	n/a	n/a
10	POLR2A	chr3:156397258-156397810	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr3:156397116-156397768	Hela-S3	cervix:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:156254673..156257232-chr3:156395894..156398875,3	K562	blood:
2	chr3:156394981..156397696-chr3:156877359..156880145,3	MCF-7	breast:
3	chr3:156391507..156394071-chr3:156396999..156400389,4	MCF-7	breast:
4	chr3:156260735..156275674-chr3:156389736..156397850,44	K562	blood:
5	chr17:41438155..41438958-chr3:156397445..156398178,2	Hela-S3	cervix:
6	chr3:156397478..156399872-chr3:156533478..156536173,2	MCF-7	breast:

No data

Variant related genes	Relation type
TIPARP	TF binding region
ENSG00000163659	Chromatin interaction
ENSG00000240875	Chromatin interaction
ENSG00000114850	Chromatin interaction
ENSG00000163660	Chromatin interaction
ENSG00000243926	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12634572	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12635422	1.00[EUR][1000 genomes]
rs1397190	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs16826514	1.00[CEU][hapmap]
rs16826602	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs16826603	1.00[CEU][hapmap]
rs16826607	1.00[CEU][hapmap]
rs4377450	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4377451	0.90[ASN][1000 genomes]
rs57684115	1.00[EUR][1000 genomes]
rs58324366	1.00[EUR][1000 genomes]
rs59239896	0.83[EUR][1000 genomes]
rs59899313	0.83[EUR][1000 genomes]
rs60940077	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60983118	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61702298	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6765047	1.00[CEU][hapmap]
rs73013991	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7609790	0.83[EUR][1000 genomes]
rs9681788	1.00[CEU][hapmap]

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	nsv1014755	chr3:155889430-156411894	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:156393000-156398800	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr3:156393600-156401800	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
3	chr3:156394000-156436000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr3:156394200-156412600	Weak transcription	Placenta	Placenta
5	chr3:156394400-156398800	Weak transcription	Aorta	Aorta
6	chr3:156394400-156404800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
7	chr3:156394400-156411800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr3:156394600-156402200	Enhancers	Fetal Heart	heart
9	chr3:156394600-156402800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr3:156394800-156400600	Genic enhancers	K562	blood
11	chr3:156394800-156403000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr3:156395000-156398400	Weak transcription	Fetal Brain Male	brain
13	chr3:156395000-156400800	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr3:156395200-156398000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
15	chr3:156395200-156398200	Weak transcription	Stomach Smooth Muscle	stomach
16	chr3:156395200-156398400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr3:156395200-156398600	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
18	chr3:156395400-156397800	Genic enhancers	Duodenum Mucosa	Duodenum
19	chr3:156395400-156397800	Transcr. at gene 5' and 3'	NH-A	brain
20	chr3:156395400-156398800	Transcr. at gene 5' and 3'	HMEC	breast
21	chr3:156395400-156399000	Genic enhancers	HepG2	liver
22	chr3:156395400-156399200	Genic enhancers	Cortex derived primary cultured neurospheres	brain
23	chr3:156395400-156400000	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr3:156395400-156400000	Genic enhancers	Liver	Liver
25	chr3:156395400-156401400	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr3:156395400-156402800	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
27	chr3:156395600-156397800	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr3:156395600-156398000	Strong transcription	Fetal Intestine Large	intestine
29	chr3:156395600-156398200	Strong transcription	HUES48 Cell Line	embryonic stem cell
30	chr3:156395600-156398400	Genic enhancers	Primary T helper cells fromperipheralblood	blood
31	chr3:156395600-156398600	Strong transcription	HUES6 Cell Line	embryonic stem cell
32	chr3:156395600-156399200	Strong transcription	HUES64 Cell Line	embryonic stem cell
33	chr3:156395600-156399800	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr3:156395600-156399800	Strong transcription	Fetal Thymus	thymus
35	chr3:156395600-156400000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
36	chr3:156395600-156401800	Genic enhancers	HUVEC	blood vessel
37	chr3:156395600-156438600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr3:156395800-156397800	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
39	chr3:156395800-156397800	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr3:156395800-156398600	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr3:156395800-156398600	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
42	chr3:156395800-156400200	Genic enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr3:156395800-156400800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr3:156395800-156408600	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr3:156396000-156398200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr3:156396200-156398200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr3:156396200-156398800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr3:156396200-156399800	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
49	chr3:156396200-156403600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr3:156396200-156407400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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