Variant report

Variant	rs2304598
Chromosome Location	chr15:73048529-73048530
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr15:73048041-73048689	GM12891	blood:	n/a	n/a
2	POLR2A	chr15:73048489-73048702	ProgFib	skin:	n/a	n/a
3	POLR2A	chr15:73048044-73048721	GM12892	blood:	n/a	n/a
4	POLR2A	chr15:73048467-73048904	K562	blood:	n/a	n/a
5	POLR2A	chr15:73048520-73048740	Hela-S3	cervix:	n/a	n/a
6	POLR2A	chr15:73048061-73048573	HL-60	blood:	n/a	n/a
7	POLR2A	chr15:73048078-73048862	GM12892	blood:	n/a	n/a
8	POLR2A	chr15:73048126-73048873	GM12878	blood:	n/a	n/a
9	POLR2A	chr15:73048481-73048652	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
ADPGK	TF binding region

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs11072380	0.93[CHB][hapmap];0.95[JPT][hapmap];0.87[ASN][1000 genomes]
rs11072383	1.00[CEU][hapmap];0.93[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11072389	0.99[ASN][1000 genomes]
rs11856110	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12437473	0.99[ASN][1000 genomes]
rs12439200	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs12439473	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12591690	0.99[ASN][1000 genomes]
rs12591728	0.80[CHB][hapmap]
rs12594320	1.00[CEU][hapmap];0.86[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12902361	0.81[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs12906007	1.00[CEU][hapmap];0.93[CHB][hapmap];0.95[JPT][hapmap];0.92[YRI][hapmap];0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12916236	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12916448	0.88[ASN][1000 genomes]
rs1346165	0.92[CHB][hapmap];0.85[ASN][1000 genomes]
rs16957257	0.81[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs16957297	0.93[CHB][hapmap];0.87[ASN][1000 genomes]
rs28562097	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28648660	0.99[ASN][1000 genomes]
rs28737436	0.99[ASN][1000 genomes]
rs28801790	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28827493	0.99[ASN][1000 genomes]
rs28866048	0.87[ASN][1000 genomes]
rs34660767	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4777541	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs6495017	0.87[ASN][1000 genomes]
rs6495018	0.86[CHB][hapmap];0.81[JPT][hapmap];0.80[ASN][1000 genomes]
rs7162166	0.87[CHB][hapmap]
rs7170394	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7172397	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7175918	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7182854	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs8023358	1.00[CEU][hapmap];1.00[CHB][hapmap];0.81[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8024644	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8026559	0.93[CHB][hapmap];0.95[JPT][hapmap];0.89[ASN][1000 genomes]
rs8031691	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.99[ASN][1000 genomes]
rs8036269	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758386	chr15:72819785-73120560	Strong transcription ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	esv2760039	chr15:72819785-73120560	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv428307	chr15:72819785-73120560	Strong transcription Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
4	nsv482512	chr15:73023099-73175952	Flanking Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 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	chr15:73002000-73054600	Weak transcription	Fetal Brain Male	brain
2	chr15:73030600-73058400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr15:73035800-73050600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr15:73041600-73049800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr15:73041800-73049000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr15:73041800-73071000	Strong transcription	Liver	Liver
7	chr15:73042200-73048800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr15:73042200-73049000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr15:73042200-73053800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr15:73042200-73055400	Strong transcription	Fetal Muscle Leg	muscle
11	chr15:73042200-73056200	Strong transcription	Thymus	Thymus
12	chr15:73042200-73058600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr15:73042200-73058600	Strong transcription	A549	lung
14	chr15:73042400-73049000	Strong transcription	Osteobl	bone
15	chr15:73042800-73050000	Strong transcription	HSMM	muscle
16	chr15:73043200-73050400	Strong transcription	Colonic Mucosa	Colon
17	chr15:73043200-73053400	Strong transcription	GM12878-XiMat	blood
18	chr15:73043200-73053800	Strong transcription	Stomach Smooth Muscle	stomach
19	chr15:73043400-73048600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr15:73043400-73049000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr15:73043400-73049400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr15:73043400-73049400	Strong transcription	Gastric	stomach
23	chr15:73043400-73050000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr15:73043400-73050000	Strong transcription	Brain Anterior Caudate	brain
25	chr15:73043400-73051000	Strong transcription	Esophagus	oesophagus
26	chr15:73043400-73051200	Strong transcription	Pancreas	Pancrea
27	chr15:73043400-73053600	Strong transcription	Rectal Mucosa Donor 31	rectum
28	chr15:73043400-73055200	Strong transcription	HUES6 Cell Line	embryonic stem cell
29	chr15:73043400-73055800	Strong transcription	Fetal Stomach	stomach
30	chr15:73043400-73056200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr15:73043400-73056600	Strong transcription	HUES64 Cell Line	embryonic stem cell
32	chr15:73043400-73056600	Strong transcription	Fetal Muscle Trunk	muscle
33	chr15:73043400-73056800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr15:73043400-73058800	Strong transcription	HUES48 Cell Line	embryonic stem cell
35	chr15:73043400-73058800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
36	chr15:73043400-73059000	Strong transcription	Fetal Intestine Small	intestine
37	chr15:73043400-73059000	Strong transcription	Left Ventricle	heart
38	chr15:73043400-73059200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr15:73043400-73059200	Strong transcription	Fetal Intestine Large	intestine
40	chr15:73043600-73049800	Strong transcription	NHLF	lung
41	chr15:73043600-73050600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr15:73043800-73049200	Strong transcription	Cortex derived primary cultured neurospheres	brain
43	chr15:73043800-73051200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
44	chr15:73043800-73051200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr15:73043800-73053600	Strong transcription	H1 Cell Line	embryonic stem cell
46	chr15:73043800-73057000	Strong transcription	Duodenum Smooth Muscle	Duodenum
47	chr15:73043800-73057200	Strong transcription	Sigmoid Colon	Sigmoid Colon
48	chr15:73043800-73073600	Strong transcription	Fetal Thymus	thymus
49	chr15:73044000-73048800	Strong transcription	HMEC	breast
50	chr15:73044000-73049000	Strong transcription	Colon Smooth Muscle	Colon

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