Variant report

Variant	rs6705737
Chromosome Location	chr2:46927863-46927864
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:46925509..46928130-chr2:47135510..47137063,2	MCF-7	breast:
2	chr2:46926502..46928230-chr2:46967700..46969222,2	MCF-7	breast:
3	chr2:46926377..46928977-chr2:47022030..47023631,2	K562	blood:
4	chr2:46926353..46928054-chr2:46945073..46946618,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000180398	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs17035560	0.85[AFR][1000 genomes]
rs17035565	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17035570	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17035588	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs17039203	0.83[EUR][1000 genomes]
rs41363950	0.82[ASN][1000 genomes]
rs41413046	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs41518447	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6737848	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs973491	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs990289	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[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	nsv1014425	chr2:46670179-47033417	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv535678	chr2:46670179-47033417	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription 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 target site	31 gene(s)	inside rSNPs	diseases
3	nsv873996	chr2:46670941-47065227	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking 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 target site	35 gene(s)	inside rSNPs	diseases
4	nsv533112	chr2:46800828-46959977	Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
6	nsv873997	chr2:46821640-46984627	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	esv3365634	chr2:46910377-46929000	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	esv3460455	chr2:46910422-46928955	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	esv3460454	chr2:46910435-46928955	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	esv3460456	chr2:46910436-46928951	Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:46924600-46929200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr2:46924800-46928200	Active TSS	Duodenum Smooth Muscle	Duodenum
3	chr2:46925000-46928400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:46925000-46930000	Active TSS	Breast Myoepithelial Primary Cells	Breast
5	chr2:46925200-46928000	Active TSS	Rectal Mucosa Donor 29	rectum
6	chr2:46925200-46928200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr2:46925200-46928400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr2:46925200-46928400	Active TSS	Right Atrium	heart
9	chr2:46925200-46928400	Active TSS	Right Ventricle	heart
10	chr2:46925200-46928800	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr2:46925200-46928800	Active TSS	Stomach Smooth Muscle	stomach
12	chr2:46925200-46929200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr2:46925400-46928000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
14	chr2:46925400-46928000	Active TSS	Aorta	Aorta
15	chr2:46925400-46928200	Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr2:46925400-46928200	Active TSS	Colon Smooth Muscle	Colon
17	chr2:46925400-46928200	Active TSS	GM12878-XiMat	blood
18	chr2:46925400-46928400	Active TSS	iPS-15b Cell Line	embryonic stem cell
19	chr2:46925400-46928400	Active TSS	iPS-18 Cell Line	embryonic stem cell
20	chr2:46925400-46928400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr2:46925400-46928600	Active TSS	HSMMtube	muscle
22	chr2:46925400-46929200	Active TSS	Ovary	ovary
23	chr2:46925600-46928000	Active TSS	Fetal Stomach	stomach
24	chr2:46925600-46928400	Active TSS	H1 Cell Line	embryonic stem cell
25	chr2:46925600-46928400	Active TSS	A549	lung
26	chr2:46925600-46929200	Active TSS	NHDF-Ad	bronchial
27	chr2:46925600-46929400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr2:46925800-46928000	Active TSS	HUES48 Cell Line	embryonic stem cell
29	chr2:46925800-46928000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr2:46925800-46928000	Active TSS	HSMM	muscle
31	chr2:46925800-46928600	Active TSS	NH-A	brain
32	chr2:46925800-46929200	Active TSS	Muscle Satellite Cultured Cells	--
33	chr2:46925800-46929200	Active TSS	Osteobl	bone
34	chr2:46925800-46930200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr2:46925800-46930200	Active TSS	NHLF	lung
36	chr2:46926000-46928400	Active TSS	K562	blood
37	chr2:46926800-46928000	Flanking Active TSS	Liver	Liver
38	chr2:46927000-46928000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr2:46927200-46928000	Flanking Active TSS	Duodenum Mucosa	Duodenum
40	chr2:46927200-46928000	Flanking Active TSS	HUVEC	blood vessel
41	chr2:46927200-46928800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr2:46927200-46935800	Weak transcription	Spleen	Spleen
43	chr2:46927400-46928000	Enhancers	Primary monocytes fromperipheralblood	blood
44	chr2:46927400-46928000	Enhancers	Primary B cells from peripheral blood	blood
45	chr2:46927400-46928000	Enhancers	Primary T cells fromperipheralblood	blood
46	chr2:46927400-46928200	Enhancers	Primary T cells from cord blood	blood
47	chr2:46927400-46928200	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr2:46927400-46928400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
49	chr2:46927400-46928400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr2:46927400-46928400	Weak transcription	Left Ventricle	heart

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