Variant report

Variant	rs6737848
Chromosome Location	chr2:46928166-46928167
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:46926502..46928230-chr2:46967700..46969222,2	MCF-7	breast:
2	chr2:46926377..46928977-chr2:47022030..47023631,2	K562	blood:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs12474054	0.82[ASN][1000 genomes]
rs17035560	0.86[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs17035565	1.00[CEU][hapmap];0.84[CHB][hapmap];0.95[JPT][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17035570	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs17035588	1.00[CEU][hapmap];0.84[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17039203	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28715577	0.85[ASN][1000 genomes]
rs41363950	0.82[ASN][1000 genomes]
rs41413046	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs41458449	0.86[ASN][1000 genomes]
rs41518447	0.95[EUR][1000 genomes]
rs6705737	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs897529	0.91[JPT][hapmap]
rs973491	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs990289	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[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:113 , 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	chr2:46925200-46928200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr2:46925200-46928400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr2:46925200-46928400	Active TSS	Right Atrium	heart
8	chr2:46925200-46928400	Active TSS	Right Ventricle	heart
9	chr2:46925200-46928800	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr2:46925200-46928800	Active TSS	Stomach Smooth Muscle	stomach
11	chr2:46925200-46929200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr2:46925400-46928200	Active TSS	HUES6 Cell Line	embryonic stem cell
13	chr2:46925400-46928200	Active TSS	Colon Smooth Muscle	Colon
14	chr2:46925400-46928200	Active TSS	GM12878-XiMat	blood
15	chr2:46925400-46928400	Active TSS	iPS-15b Cell Line	embryonic stem cell
16	chr2:46925400-46928400	Active TSS	iPS-18 Cell Line	embryonic stem cell
17	chr2:46925400-46928400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr2:46925400-46928600	Active TSS	HSMMtube	muscle
19	chr2:46925400-46929200	Active TSS	Ovary	ovary
20	chr2:46925600-46928400	Active TSS	H1 Cell Line	embryonic stem cell
21	chr2:46925600-46928400	Active TSS	A549	lung
22	chr2:46925600-46929200	Active TSS	NHDF-Ad	bronchial
23	chr2:46925600-46929400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr2:46925800-46928600	Active TSS	NH-A	brain
25	chr2:46925800-46929200	Active TSS	Muscle Satellite Cultured Cells	--
26	chr2:46925800-46929200	Active TSS	Osteobl	bone
27	chr2:46925800-46930200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr2:46925800-46930200	Active TSS	NHLF	lung
29	chr2:46926000-46928400	Active TSS	K562	blood
30	chr2:46927200-46928800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr2:46927200-46935800	Weak transcription	Spleen	Spleen
32	chr2:46927400-46928200	Enhancers	Primary T cells from cord blood	blood
33	chr2:46927400-46928200	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr2:46927400-46928400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr2:46927400-46928400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr2:46927400-46928400	Weak transcription	Left Ventricle	heart
37	chr2:46927400-46928400	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr2:46927400-46928400	Active TSS	Skeletal Muscle Female	skeletal muscle
39	chr2:46927400-46928800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
40	chr2:46927400-46931400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr2:46927400-46932000	Weak transcription	Gastric	stomach
42	chr2:46927400-46932000	Weak transcription	Pancreas	Pancrea
43	chr2:46927400-46933400	Weak transcription	Brain Angular Gyrus	brain
44	chr2:46927400-46933800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr2:46927600-46928200	Weak transcription	Brain Cingulate Gyrus	brain
46	chr2:46927600-46928200	Enhancers	Brain Inferior Temporal Lobe	brain
47	chr2:46927600-46928200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
48	chr2:46927600-46928200	Active TSS	HepG2	liver
49	chr2:46927600-46928400	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr2:46927600-46928400	Enhancers	Primary T helper cells fromperipheralblood	blood

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