Variant report

Variant	rs6735752
Chromosome Location	chr2:110303312-110303313
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:110303139..110304334-chr2:110493545..110494430,6	MCF-7	breast:

Extended variants
information (count: 30 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10496433	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs11690225	0.87[AMR][1000 genomes]
rs11692886	0.86[EUR][1000 genomes]
rs1808722	0.85[EUR][1000 genomes]
rs28369323	0.88[CEU][hapmap];0.86[TSI][hapmap];0.85[EUR][1000 genomes]
rs28853417	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.80[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs58012425	0.89[EUR][1000 genomes]
rs61215808	0.85[EUR][1000 genomes]
rs6716287	0.85[EUR][1000 genomes]
rs6752531	0.96[EUR][1000 genomes]
rs717189	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs726901	0.82[ASN][1000 genomes]
rs72938271	0.84[EUR][1000 genomes]
rs7568492	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.83[TSI][hapmap]
rs7572991	0.81[TSI][hapmap]
rs7590230	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[TSI][hapmap]
rs7603756	0.82[ASN][1000 genomes]
rs767628	0.88[CEU][hapmap];0.86[TSI][hapmap];0.85[EUR][1000 genomes]
rs892464	0.88[CEU][hapmap];0.86[TSI][hapmap]
rs9330316	0.86[EUR][1000 genomes]
rs9677631	0.82[ASN][1000 genomes]
rs9751601	0.89[EUR][1000 genomes]
rs9751717	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9752350	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874777	chr2:109825516-110693317	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv874780	chr2:110078080-110432886	Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv2874	chr2:110289373-110333621	Weak transcription Strong transcription Bivalent Enhancer Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv1011456	chr2:110290958-110980402	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
5	nsv535861	chr2:110290958-110980402	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
6	nsv482469	chr2:110302488-110452580	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6735752	ANKRD57	Cis_1M	lymphoblastoid	RTeQTL
rs6735752	SH3MD4	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:110291000-110309400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr2:110291800-110309400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr2:110293200-110316200	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr2:110293400-110304000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr2:110293400-110309400	Weak transcription	Left Ventricle	heart
6	chr2:110293400-110309600	Weak transcription	Lung	lung
7	chr2:110293400-110309600	Weak transcription	NHDF-Ad	bronchial
8	chr2:110293400-110331600	Weak transcription	Right Ventricle	heart
9	chr2:110293400-110352200	Weak transcription	Gastric	stomach
10	chr2:110293600-110309400	Weak transcription	Liver	Liver
11	chr2:110296000-110312200	Weak transcription	Stomach Mucosa	stomach
12	chr2:110296400-110309400	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr2:110296400-110309400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr2:110296400-110309400	Weak transcription	HSMMtube	muscle
15	chr2:110296400-110313400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr2:110296800-110309400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr2:110297400-110304000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr2:110297400-110351600	Weak transcription	Brain Germinal Matrix	brain
19	chr2:110297800-110331800	Weak transcription	Colonic Mucosa	Colon
20	chr2:110298000-110303800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr2:110298000-110309200	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr2:110298000-110310200	Weak transcription	Hela-S3	cervix
23	chr2:110298400-110309600	Weak transcription	Ovary	ovary
24	chr2:110299000-110303800	Strong transcription	Osteobl	bone
25	chr2:110299600-110309400	Weak transcription	Aorta	Aorta
26	chr2:110299600-110309600	Weak transcription	Pancreas	Pancrea
27	chr2:110299600-110318600	Weak transcription	Esophagus	oesophagus
28	chr2:110299600-110320200	Weak transcription	Skeletal Muscle Female	skeletal muscle
29	chr2:110299600-110324200	Weak transcription	Brain Angular Gyrus	brain
30	chr2:110299800-110309600	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr2:110300200-110309400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr2:110300200-110309600	Weak transcription	Rectal Smooth Muscle	rectum
33	chr2:110300200-110309600	Weak transcription	Stomach Smooth Muscle	stomach
34	chr2:110300400-110304000	Weak transcription	Fetal Heart	heart
35	chr2:110301000-110309600	Weak transcription	Brain Hippocampus Middle	brain
36	chr2:110301000-110310000	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr2:110301400-110303600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr2:110301400-110325000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr2:110301600-110321000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr2:110301800-110303800	Strong transcription	NH-A	brain
41	chr2:110301800-110309600	Weak transcription	Fetal Brain Female	brain
42	chr2:110301800-110309600	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr2:110302000-110303400	Weak transcription	Fetal Brain Male	brain
44	chr2:110302000-110303600	Strong transcription	NHEK	skin
45	chr2:110302000-110333600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr2:110302200-110303600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr2:110302200-110357600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr2:110302400-110303600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr2:110302400-110303600	Strong transcription	HUES48 Cell Line	embryonic stem cell
50	chr2:110302400-110303600	Strong transcription	Fetal Kidney	kidney

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