Variant report

Variant	rs6731970
Chromosome Location	chr2:46951803-46951804
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	chr2:46926166..46928725-chr2:46949983..46951924,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000171150	Chromatin interaction

Extended variants
information (count: 82 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs10495937	0.88[EUR][1000 genomes]
rs11889273	0.85[CHB][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs11892177	0.82[AFR][1000 genomes]
rs11892710	0.90[AFR][1000 genomes]
rs11893159	1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs11893955	0.84[AFR][1000 genomes]
rs11903382	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1446496	0.93[EUR][1000 genomes]
rs1446497	0.93[EUR][1000 genomes]
rs1446498	0.93[EUR][1000 genomes]
rs17771005	1.00[CHB][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17771017	0.80[CEU][hapmap];0.93[EUR][1000 genomes]
rs17771098	0.91[EUR][1000 genomes]
rs17771201	0.91[EUR][1000 genomes]
rs17771237	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17771255	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17771357	0.86[AFR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17771942	0.93[EUR][1000 genomes]
rs17772285	0.93[EUR][1000 genomes]
rs17821989	0.93[EUR][1000 genomes]
rs17822668	1.00[YRI][hapmap]
rs17822782	0.93[EUR][1000 genomes]
rs2045290	0.93[EUR][1000 genomes]
rs41320947	0.81[AFR][1000 genomes]
rs41349351	0.86[AFR][1000 genomes]
rs41370847	0.93[AFR][1000 genomes]
rs41371146	0.98[EUR][1000 genomes]
rs41375646	0.84[AFR][1000 genomes]
rs41379147	0.81[AFR][1000 genomes]
rs41379148	0.93[EUR][1000 genomes]
rs41432848	0.81[AFR][1000 genomes]
rs41478946	0.86[AFR][1000 genomes]
rs4575769	0.80[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs55874432	0.85[EUR][1000 genomes]
rs55928499	0.95[EUR][1000 genomes]
rs56006635	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56199036	0.93[EUR][1000 genomes]
rs56224128	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56800355	0.93[EUR][1000 genomes]
rs56953385	1.00[ASN][1000 genomes]
rs57124017	0.98[EUR][1000 genomes]
rs58903656	0.93[EUR][1000 genomes]
rs62134765	0.84[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs6721999	0.81[AFR][1000 genomes]
rs6735101	1.00[CHB][hapmap];0.85[YRI][hapmap];0.82[AFR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6749450	0.88[AFR][1000 genomes]
rs72802415	0.89[EUR][1000 genomes]
rs72802420	0.93[EUR][1000 genomes]
rs72802426	0.93[EUR][1000 genomes]
rs72802428	0.87[EUR][1000 genomes]
rs72802429	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72802430	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs72802435	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72802441	0.87[EUR][1000 genomes]
rs72802444	0.93[EUR][1000 genomes]
rs72802448	0.93[EUR][1000 genomes]
rs72802451	0.93[EUR][1000 genomes]
rs72802454	0.93[EUR][1000 genomes]
rs72802455	0.93[EUR][1000 genomes]
rs72802456	0.93[EUR][1000 genomes]
rs72802458	0.91[EUR][1000 genomes]
rs72802460	0.83[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs72802463	0.87[EUR][1000 genomes]
rs72802466	0.93[EUR][1000 genomes]
rs72802467	0.93[EUR][1000 genomes]
rs72802486	0.93[EUR][1000 genomes]
rs72802487	0.93[EUR][1000 genomes]
rs72802489	0.91[ASN][1000 genomes]
rs72802492	0.91[EUR][1000 genomes]
rs72802498	0.88[EUR][1000 genomes]
rs7566275	0.89[EUR][1000 genomes]
rs7591613	0.84[AFR][1000 genomes]
rs7606134	0.88[AFR][1000 genomes]
rs9677272	1.00[CHB][hapmap];0.91[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9677705	1.00[YRI][hapmap];0.91[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv1013079	chr2:46949337-46998417	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS	Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:46945400-46952600	Enhancers	Muscle Satellite Cultured Cells	--
2	chr2:46945400-46953400	Weak transcription	Primary hematopoietic stem cells	blood
3	chr2:46945400-46985400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr2:46946800-46953000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr2:46947000-46954600	Weak transcription	HUVEC	blood vessel
6	chr2:46947000-46954800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr2:46947600-46975600	Weak transcription	HSMM	muscle
8	chr2:46947800-46952200	Enhancers	Duodenum Smooth Muscle	Duodenum
9	chr2:46947800-46952600	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr2:46948000-46954600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr2:46948000-46954600	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr2:46948000-46954600	Weak transcription	Thymus	Thymus
13	chr2:46948200-46952400	Enhancers	NHDF-Ad	bronchial
14	chr2:46948200-46953000	Enhancers	A549	lung
15	chr2:46948200-46954400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr2:46948200-46954600	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr2:46948200-46954600	Weak transcription	Left Ventricle	heart
18	chr2:46948200-46954600	Weak transcription	Right Ventricle	heart
19	chr2:46948200-46954800	Weak transcription	Pancreas	Pancrea
20	chr2:46948200-46955000	Weak transcription	Ovary	ovary
21	chr2:46948200-46955800	Weak transcription	Lung	lung
22	chr2:46948200-46956600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr2:46948200-46962000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr2:46948200-46964400	Weak transcription	NHEK	skin
25	chr2:46948200-46967400	Weak transcription	Esophagus	oesophagus
26	chr2:46948200-46974600	Weak transcription	Fetal Muscle Trunk	muscle
27	chr2:46948200-46977200	Weak transcription	Aorta	Aorta
28	chr2:46948400-46952000	Enhancers	Osteobl	bone
29	chr2:46948400-46954600	Weak transcription	Stomach Smooth Muscle	stomach
30	chr2:46948400-46954800	Weak transcription	Primary B cells from peripheral blood	blood
31	chr2:46948400-46961600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr2:46948600-46954600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr2:46948600-46964200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr2:46948600-46964400	Weak transcription	NH-A	brain
35	chr2:46948600-46974400	Weak transcription	Fetal Stomach	stomach
36	chr2:46948800-46952000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr2:46948800-46952600	Weak transcription	Brain Anterior Caudate	brain
38	chr2:46948800-46955200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr2:46949000-46954600	Weak transcription	Psoas Muscle	Psoas
40	chr2:46949000-46954600	Weak transcription	Small Intestine	intestine
41	chr2:46949000-46954800	Weak transcription	Brain Hippocampus Middle	brain
42	chr2:46949400-46953800	Enhancers	HepG2	liver
43	chr2:46949600-46958400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
44	chr2:46949800-46954600	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr2:46950000-46954600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr2:46950400-46952000	Enhancers	Hela-S3	cervix
47	chr2:46950600-46952000	Enhancers	Primary T cells from cord blood	blood
48	chr2:46950600-46952200	Enhancers	Primary T helper cells PMA-I stimulated	--
49	chr2:46950600-46953000	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr2:46950800-46952000	Weak transcription	Adipose Nuclei	Adipose

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