Variant report

Variant	rs6760040
Chromosome Location	chr2:32608201-32608202
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	chr2:32608164-32608280	MCF-7	breast:	n/a	n/a
2	POLR2A	chr2:32608122-32608292	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:32582832..32585768-chr2:32608002..32610374,2	K562	blood:
2	chr2:32591141..32592778-chr2:32607234..32609224,2	MCF-7	breast:

Variant related genes	Relation type
BIRC6-AS1	TF binding region

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs176400	0.90[ASN][1000 genomes]
rs176404	0.84[ASN][1000 genomes]
rs176416	0.87[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs1991626	0.83[ASN][1000 genomes]
rs2038534	0.81[EUR][1000 genomes]
rs4952212	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4952262	0.90[ASN][1000 genomes]
rs6733396	0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949102	chr2:32030307-33011548	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv817386	chr2:32332893-32724794	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv1001038	chr2:32333378-32657112	Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv1009359	chr2:32333378-32725117	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	nsv535613	chr2:32333378-32725117	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
6	esv2422335	chr2:32412330-33200581	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
7	nsv533153	chr2:32514528-33249136	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
8	esv2751888	chr2:32539236-33331549	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
9	nsv516173	chr2:32541438-33329957	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
10	esv2763243	chr2:32567339-33331778	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS 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	50 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	chr2:32583600-32623000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:32583600-32653200	Weak transcription	Gastric	stomach
3	chr2:32583800-32649000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:32584600-32609000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr2:32585400-32609000	Weak transcription	NHEK	skin
6	chr2:32585800-32609000	Weak transcription	Fetal Brain Female	brain
7	chr2:32587400-32608600	Weak transcription	Brain Germinal Matrix	brain
8	chr2:32592800-32609600	Weak transcription	Spleen	Spleen
9	chr2:32593400-32609800	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr2:32595200-32609000	Weak transcription	Ovary	ovary
11	chr2:32595800-32609400	Weak transcription	Brain Substantia Nigra	brain
12	chr2:32600800-32609400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr2:32601000-32611600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr2:32602000-32609800	Weak transcription	Rectal Smooth Muscle	rectum
15	chr2:32602000-32617400	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr2:32602000-32653000	Weak transcription	Stomach Mucosa	stomach
17	chr2:32602200-32609000	Weak transcription	NHDF-Ad	bronchial
18	chr2:32602200-32609600	Weak transcription	Brain Anterior Caudate	brain
19	chr2:32602400-32609000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr2:32602400-32618600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr2:32603200-32617200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr2:32603200-32617200	Weak transcription	Right Ventricle	heart
23	chr2:32603200-32620600	Weak transcription	Fetal Brain Male	brain
24	chr2:32603400-32608800	Weak transcription	Esophagus	oesophagus
25	chr2:32603400-32609000	Weak transcription	Brain Cingulate Gyrus	brain
26	chr2:32603400-32609000	Weak transcription	HSMMtube	muscle
27	chr2:32603400-32609200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr2:32603400-32609200	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr2:32603400-32609600	Weak transcription	Psoas Muscle	Psoas
30	chr2:32603400-32609600	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr2:32603400-32610600	Weak transcription	Aorta	Aorta
32	chr2:32603400-32616600	Weak transcription	Colon Smooth Muscle	Colon
33	chr2:32603400-32617200	Weak transcription	Small Intestine	intestine
34	chr2:32603400-32620800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr2:32603800-32608600	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr2:32603800-32609600	Weak transcription	Right Atrium	heart
37	chr2:32604600-32618800	Strong transcription	HUES48 Cell Line	embryonic stem cell
38	chr2:32604600-32624000	Strong transcription	Primary T helper cells fromperipheralblood	blood
39	chr2:32604600-32635000	Strong transcription	Fetal Thymus	thymus
40	chr2:32604600-32635200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr2:32604600-32637200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr2:32604800-32635600	Strong transcription	HUES64 Cell Line	embryonic stem cell
43	chr2:32605000-32608400	Weak transcription	Fetal Kidney	kidney
44	chr2:32605000-32616600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
45	chr2:32605200-32609200	Strong transcription	Liver	Liver
46	chr2:32605200-32612400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr2:32605200-32613000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr2:32605200-32614400	Strong transcription	Dnd41	blood
49	chr2:32605200-32615000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
50	chr2:32605200-32615800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland

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