Variant report

Variant	rs2170814
Chromosome Location	chr3:47539751-47539752
allele	A/G
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	chr3:47539684-47540157	GM12878	blood:	n/a	n/a
2	POLR2A	chr3:47539572-47540217	GM12892	blood:	n/a	n/a
3	POLR2A	chr3:47539719-47539985	GM12878	blood:	n/a	n/a
4	POLR2A	chr3:47539475-47539769	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:47534370..47536287-chr3:47537725..47539806,3	K562	blood:
2	chr3:47537303..47543925-chr3:47549598..47557776,11	K562	blood:
3	chr3:47532827..47535628-chr3:47539625..47541232,2	K562	blood:

Variant related genes	Relation type
ENSG00000271161	TF binding region
ENSG00000272110	TF binding region
ENSG00000163832	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs1038391	1.00[EUR][1000 genomes]
rs1038393	0.87[AMR][1000 genomes]
rs10865947	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs1091068	1.00[AMR][1000 genomes]
rs11130134	1.00[EUR][1000 genomes]
rs11707272	1.00[ASW][hapmap];0.93[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs11714816	1.00[EUR][1000 genomes]
rs12491029	1.00[YRI][hapmap]
rs13077134	1.00[YRI][hapmap];0.87[AMR][1000 genomes]
rs13080450	1.00[CHB][hapmap]
rs1486916	1.00[EUR][1000 genomes]
rs1531874	1.00[ASW][hapmap];0.87[LWK][hapmap];0.82[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs1872165	1.00[ASW][hapmap];0.93[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs2046376	1.00[CHB][hapmap]
rs2351249	1.00[EUR][1000 genomes]
rs295431	1.00[AMR][1000 genomes]
rs295432	1.00[ASW][hapmap];0.87[LWK][hapmap];0.82[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs295434	1.00[YRI][hapmap];0.87[AMR][1000 genomes]
rs295448	1.00[YRI][hapmap];0.87[AMR][1000 genomes]
rs295450	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs295451	0.82[MKK][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes]
rs295453	1.00[AMR][1000 genomes]
rs295454	1.00[ASW][hapmap];0.93[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs295455	1.00[AMR][1000 genomes]
rs295456	1.00[ASW][hapmap];0.87[LWK][hapmap];0.82[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs295457	0.82[MKK][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes]
rs295459	1.00[ASW][hapmap];0.93[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs3772406	1.00[CHB][hapmap]
rs4383546	1.00[EUR][1000 genomes]
rs448018	0.87[AMR][1000 genomes]
rs4858812	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs4858823	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs4858833	1.00[EUR][1000 genomes]
rs4858834	1.00[EUR][1000 genomes]
rs4858855	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55736379	1.00[EUR][1000 genomes]
rs6442068	1.00[ASW][hapmap];0.93[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs6442069	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs648226	1.00[AMR][1000 genomes]
rs6785538	1.00[AMR][1000 genomes]
rs6788978	1.00[AMR][1000 genomes]
rs6789730	0.87[AMR][1000 genomes]
rs7372780	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs73831515	1.00[EUR][1000 genomes]
rs7612191	0.87[AMR][1000 genomes]
rs7621853	0.87[AMR][1000 genomes]
rs7644043	1.00[ASW][hapmap];0.93[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs807930	1.00[ASW][hapmap];0.87[LWK][hapmap];0.82[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs900688	0.87[AMR][1000 genomes]
rs900689	0.94[YRI][hapmap];1.00[AMR][1000 genomes]
rs900690	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs900692	0.87[AMR][1000 genomes]
rs900693	0.90[ASW][hapmap];0.89[YRI][hapmap]
rs900694	1.00[ASW][hapmap];0.87[LWK][hapmap];0.82[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs9823599	0.85[AMR][1000 genomes]
rs9828124	1.00[AMR][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	nsv876756	chr3:47002931-47586514	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:47517800-47544400	Weak transcription	Small Intestine	intestine
2	chr3:47518200-47541600	Weak transcription	Fetal Kidney	kidney
3	chr3:47529200-47539800	Weak transcription	NH-A	brain
4	chr3:47532000-47546400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr3:47532600-47542200	Weak transcription	Fetal Brain Male	brain
6	chr3:47533600-47542200	Weak transcription	HUVEC	blood vessel
7	chr3:47534200-47547000	Strong transcription	Dnd41	blood
8	chr3:47534400-47543000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr3:47534400-47546000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr3:47534400-47546200	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr3:47534600-47546000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr3:47534600-47553000	Strong transcription	Fetal Thymus	thymus
13	chr3:47534800-47549400	Weak transcription	Fetal Heart	heart
14	chr3:47534800-47552400	Strong transcription	Fetal Intestine Small	intestine
15	chr3:47534800-47553200	Strong transcription	Fetal Stomach	stomach
16	chr3:47535200-47543000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr3:47535200-47546200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
18	chr3:47535200-47546200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr3:47535200-47546200	Strong transcription	Thymus	Thymus
20	chr3:47535200-47547000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr3:47535200-47553000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr3:47535400-47546400	Strong transcription	Primary T cells fromperipheralblood	blood
23	chr3:47535400-47546400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr3:47535400-47546400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr3:47535600-47546600	Strong transcription	H1 Cell Line	embryonic stem cell
26	chr3:47535600-47547000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr3:47535600-47552800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr3:47535800-47546600	Strong transcription	HUES6 Cell Line	embryonic stem cell
29	chr3:47536000-47541600	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr3:47536200-47544000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr3:47536200-47546400	Strong transcription	Fetal Muscle Trunk	muscle
32	chr3:47536200-47553200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr3:47536400-47546000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr3:47536400-47546000	Strong transcription	Primary neutrophils fromperipheralblood	blood
35	chr3:47536400-47546200	Strong transcription	Liver	Liver
36	chr3:47536400-47546400	Strong transcription	HUES64 Cell Line	embryonic stem cell
37	chr3:47536400-47546400	Strong transcription	Cortex derived primary cultured neurospheres	brain
38	chr3:47536400-47546800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr3:47536400-47547000	Strong transcription	HepG2	liver
40	chr3:47536600-47539800	Strong transcription	Spleen	Spleen
41	chr3:47536600-47540400	Strong transcription	Placenta Amnion	Placenta Amnion
42	chr3:47536600-47543200	Strong transcription	HSMMtube	muscle
43	chr3:47536600-47543400	Strong transcription	Ovary	ovary
44	chr3:47536600-47544000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr3:47536600-47544400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr3:47536600-47546000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr3:47536600-47546000	Strong transcription	Primary monocytes fromperipheralblood	blood
48	chr3:47536600-47546000	Strong transcription	Colonic Mucosa	Colon
49	chr3:47536600-47546000	Strong transcription	Fetal Intestine Large	intestine
50	chr3:47536600-47546000	Strong transcription	Left Ventricle	heart

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