Variant report

Variant	rs3755192
Chromosome Location	chr2:37570031-37570032
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	CTCF	chr2:37569940-37570090	GM12868	blood:	n/a	n/a
2	GATA2	chr2:37569734-37570130	SH-SY5Y	brain:	n/a	n/a
3	GATA3	chr2:37569868-37570085	SH-SY5Y	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:37569565..37571229-chr2:37584533..37586394,2	K562	blood:

Variant related genes	Relation type
QPCT	TF binding region
ENSG00000115828	Chromatin interaction

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10204434	0.86[CHD][hapmap];0.90[JPT][hapmap]
rs10206380	0.81[JPT][hapmap]
rs10460527	0.81[CHB][hapmap];0.86[CHD][hapmap];0.95[JPT][hapmap]
rs11124570	0.83[CHB][hapmap];0.94[JPT][hapmap]
rs1160516	0.81[CHB][hapmap];0.95[JPT][hapmap]
rs11887618	0.81[CHB][hapmap];0.95[JPT][hapmap]
rs12468307	0.82[ASN][1000 genomes]
rs12469082	0.83[CHD][hapmap];0.81[GIH][hapmap];0.95[JPT][hapmap]
rs12472984	0.81[ASN][1000 genomes]
rs13027919	0.87[ASN][1000 genomes]
rs13390055	0.81[CHB][hapmap];0.95[JPT][hapmap]
rs13412560	0.80[CHB][hapmap];0.84[JPT][hapmap]
rs13421912	0.81[CHB][hapmap];0.95[JPT][hapmap]
rs13429526	0.82[CHB][hapmap];1.00[JPT][hapmap]
rs17020358	1.00[JPT][hapmap]
rs2041838	0.86[CHB][hapmap];1.00[JPT][hapmap]
rs2075215	0.90[JPT][hapmap]
rs2075216	0.90[JPT][hapmap]
rs2216114	0.81[CHB][hapmap];0.95[JPT][hapmap]
rs2241163	0.91[ASN][1000 genomes]
rs2255991	0.91[CHB][hapmap];0.88[CHD][hapmap];0.91[GIH][hapmap];0.84[JPT][hapmap];0.81[ASN][1000 genomes]
rs2268988	0.90[JPT][hapmap]
rs2287091	0.85[CHD][hapmap];0.90[JPT][hapmap]
rs2287092	0.81[CHB][hapmap];0.95[JPT][hapmap]
rs2300883	0.80[ASN][1000 genomes]
rs2300886	0.81[CHB][hapmap];0.86[CHD][hapmap];0.95[JPT][hapmap]
rs2300887	0.81[CHB][hapmap];0.86[CHD][hapmap];0.95[JPT][hapmap]
rs2300888	0.85[CHB][hapmap];0.86[CHD][hapmap];0.95[JPT][hapmap]
rs2300891	0.95[JPT][hapmap]
rs2300894	0.81[CHB][hapmap];0.83[CHD][hapmap];0.90[JPT][hapmap]
rs2302649	0.86[CHD][hapmap];0.90[JPT][hapmap]
rs28384455	0.98[ASN][1000 genomes]
rs3213746	0.95[JPT][hapmap]
rs3755191	0.98[ASN][1000 genomes]
rs3770749	0.95[CHB][hapmap];0.83[JPT][hapmap]
rs3770761	0.81[CHB][hapmap];0.86[CHD][hapmap];0.95[JPT][hapmap]
rs3815555	0.86[CHB][hapmap];0.91[CHD][hapmap];0.91[GIH][hapmap];0.83[JPT][hapmap]
rs3821144	0.81[CHB][hapmap];0.85[CHD][hapmap];0.95[JPT][hapmap]
rs4384764	0.86[CHD][hapmap]
rs4610034	0.89[ASN][1000 genomes]
rs4629138	0.84[CHD][hapmap];0.90[JPT][hapmap]
rs4670682	0.81[CHB][hapmap];0.95[JPT][hapmap]
rs4670684	0.90[CHB][hapmap];0.95[JPT][hapmap];0.80[ASN][1000 genomes]
rs4670685	0.80[CHB][hapmap];0.95[CHD][hapmap];0.89[JPT][hapmap]
rs57861177	0.80[ASN][1000 genomes]
rs60981509	0.87[ASN][1000 genomes]
rs7593932	0.95[CHB][hapmap];1.00[CHD][hapmap];0.90[JPT][hapmap];0.88[ASN][1000 genomes]
rs9309003	0.81[CHB][hapmap];0.95[JPT][hapmap]
rs952711	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.85[YRI][hapmap];0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs952712	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.80[MEX][hapmap];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430724	chr2:37546820-37628704	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a
2	nsv2685	chr2:37550096-37594923	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37565200-37570600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr2:37565600-37570600	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr2:37568000-37571600	Weak transcription	Ovary	ovary
4	chr2:37569000-37570200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr2:37569200-37571200	Enhancers	Fetal Muscle Leg	muscle
6	chr2:37569400-37571400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr2:37569600-37570200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr2:37569600-37571000	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr2:37569800-37570200	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr2:37569800-37570200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr2:37569800-37570200	Enhancers	Fetal Muscle Trunk	muscle
12	chr2:37569800-37570200	Enhancers	Spleen	Spleen
13	chr2:37569800-37570800	Enhancers	Monocytes-CD14+_RO01746	blood
14	chr2:37569800-37571200	Enhancers	Fetal Lung	lung
15	chr2:37569800-37571400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr2:37569800-37571400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr2:37569800-37571400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr2:37569800-37571600	Enhancers	Left Ventricle	heart
19	chr2:37570000-37570200	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr2:37570000-37570200	Enhancers	HSMMtube	muscle
21	chr2:37570000-37570800	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr2:37570000-37571200	Enhancers	Primary hematopoietic stem cells	blood
23	chr2:37570000-37571400	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr2:37570000-37571400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
25	chr2:37570000-37571400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr2:37570000-37571400	Enhancers	HUVEC	blood vessel
27	chr2:37570000-37571400	Enhancers	NH-A	brain

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