Variant report

Variant	rs16831529
Chromosome Location	chr2:153519768-153519769
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	chr2:153518639-153525009	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:153503515..153505715-chr2:153517522..153520304,2	K562	blood:

Variant related genes	Relation type
PRPF40A	TF binding region

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10178618	1.00[CHB][hapmap];1.00[CHD][hapmap];0.90[JPT][hapmap];0.90[ASN][1000 genomes]
rs10185455	0.90[CHD][hapmap];0.82[JPT][hapmap]
rs11679491	0.89[ASN][1000 genomes]
rs11883762	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs12052946	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13018870	0.90[ASN][1000 genomes]
rs1561267	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs16831451	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs16831728	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16831736	0.89[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2272535	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs2293680	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3748941	0.92[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs3811570	0.81[CHD][hapmap]
rs3817620	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs3845678	0.86[ASN][1000 genomes]
rs4146903	1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[JPT][hapmap];0.90[ASN][1000 genomes]
rs4664119	0.90[ASN][1000 genomes]
rs55986999	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6710417	0.92[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs6714218	0.90[ASN][1000 genomes]
rs72858735	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72871129	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs72871192	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72872615	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs746780	0.92[ASN][1000 genomes]
rs7592127	0.90[ASN][1000 genomes]
rs7604573	0.85[CHD][hapmap]
rs893328	0.93[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	nsv1013777	chr2:153273637-153538546	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv834420	chr2:153339646-153535460	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv834421	chr2:153470109-153664235	Strong transcription Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	esv3693438	chr2:153505376-153718246	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 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	chr2:153472000-153522000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:153497000-153531800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:153497200-153521200	Weak transcription	Esophagus	oesophagus
4	chr2:153501400-153531800	Weak transcription	Aorta	Aorta
5	chr2:153504400-153538200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr2:153505000-153540200	Strong transcription	Fetal Thymus	thymus
7	chr2:153505400-153539200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr2:153505400-153540200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr2:153505600-153534400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr2:153505600-153537000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:153505600-153538400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr2:153506000-153538000	Strong transcription	Liver	Liver
13	chr2:153506200-153539800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
14	chr2:153506200-153546800	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr2:153507000-153523000	Strong transcription	HUVEC	blood vessel
16	chr2:153507000-153538400	Strong transcription	Primary T helper cells fromperipheralblood	blood
17	chr2:153507000-153541600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
18	chr2:153507200-153538200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr2:153507400-153530200	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr2:153507600-153526800	Weak transcription	Stomach Mucosa	stomach
21	chr2:153508000-153542000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr2:153508000-153550800	Strong transcription	Primary monocytes fromperipheralblood	blood
23	chr2:153508200-153532800	Strong transcription	HSMM	muscle
24	chr2:153508200-153533600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr2:153508400-153537600	Strong transcription	Rectal Mucosa Donor 29	rectum
26	chr2:153508400-153537800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr2:153508400-153538000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr2:153508400-153538200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr2:153508400-153538400	Strong transcription	A549	lung
30	chr2:153508600-153529200	Strong transcription	Primary T cells from cord blood	blood
31	chr2:153508600-153539600	Strong transcription	Dnd41	blood
32	chr2:153508800-153535000	Strong transcription	Primary T cells fromperipheralblood	blood
33	chr2:153508800-153540400	Strong transcription	Primary hematopoietic stem cells	blood
34	chr2:153509000-153539600	Strong transcription	HUES64 Cell Line	embryonic stem cell
35	chr2:153509200-153520800	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr2:153509200-153521400	Strong transcription	Placenta	Placenta
37	chr2:153509200-153551200	Strong transcription	HUES48 Cell Line	embryonic stem cell
38	chr2:153509400-153538400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr2:153509800-153535000	Strong transcription	Primary neutrophils fromperipheralblood	blood
40	chr2:153509800-153540000	Strong transcription	Primary T helper cells PMA-I stimulated	--
41	chr2:153510000-153530200	Strong transcription	Muscle Satellite Cultured Cells	--
42	chr2:153510400-153539400	Strong transcription	HUES6 Cell Line	embryonic stem cell
43	chr2:153510400-153539600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
44	chr2:153510400-153540200	Strong transcription	Primary B cells from peripheral blood	blood
45	chr2:153510600-153527400	Strong transcription	Fetal Muscle Trunk	muscle
46	chr2:153510600-153529800	Strong transcription	Stomach Smooth Muscle	stomach
47	chr2:153510600-153536000	Strong transcription	Fetal Intestine Large	intestine
48	chr2:153510600-153537800	Strong transcription	NH-A	brain
49	chr2:153510600-153539800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr2:153510600-153540800	Strong transcription	H1 Cell Line	embryonic stem cell

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