Variant report

Variant	rs6744848
Chromosome Location	chr2:10747229-10747230
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:10746679..10748805-chr2:10763845..10765484,2	MCF-7	breast:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1023588	0.95[CHB][hapmap]
rs10490187	0.95[CHB][hapmap];0.86[ASN][1000 genomes]
rs10929675	0.89[GIH][hapmap]
rs13011439	0.84[GIH][hapmap]
rs13019722	0.83[ASN][1000 genomes]
rs2110779	0.83[CHB][hapmap];0.84[GIH][hapmap]
rs2160257	0.84[GIH][hapmap]
rs2287063	0.84[GIH][hapmap]
rs35364825	0.85[ASN][1000 genomes]
rs35587360	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3732111	0.95[CHB][hapmap];0.84[GIH][hapmap]
rs3815520	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3821195	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3821196	0.82[CHB][hapmap];0.84[GIH][hapmap]
rs4668692	0.84[GIH][hapmap]
rs4668694	0.84[MEX][hapmap]
rs4669591	1.00[CEU][hapmap]
rs4669597	0.95[CHB][hapmap];0.85[ASN][1000 genomes]
rs62127196	0.84[ASN][1000 genomes]
rs62127226	0.81[EUR][1000 genomes]
rs6432127	0.89[GIH][hapmap]
rs6432129	0.95[CHB][hapmap]
rs6733161	0.84[GIH][hapmap]
rs6757809	0.84[GIH][hapmap]
rs7594805	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7594816	0.95[CHB][hapmap];0.84[GIH][hapmap]

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	nsv1007185	chr2:10540386-10791743	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv833370	chr2:10625149-10785402	Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv1009897	chr2:10627248-10751468	Enhancers Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv1000953	chr2:10717304-10921805	Strong transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv535584	chr2:10717304-10921805	Bivalent Enhancer Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv833381	chr2:10723465-10911284	Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10721000-10755000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr2:10725600-10758800	Weak transcription	Stomach Mucosa	stomach
3	chr2:10725600-10793400	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr2:10725800-10787000	Weak transcription	Fetal Heart	heart
5	chr2:10726000-10747600	Strong transcription	HepG2	liver
6	chr2:10729200-10754200	Weak transcription	NHLF	lung
7	chr2:10729200-10760000	Weak transcription	Brain Angular Gyrus	brain
8	chr2:10729400-10781800	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr2:10729400-10798400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr2:10730000-10747600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr2:10730800-10774400	Weak transcription	Psoas Muscle	Psoas
12	chr2:10731400-10752000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr2:10732000-10777600	Weak transcription	Rectal Smooth Muscle	rectum
14	chr2:10732600-10747800	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr2:10732600-10754400	Weak transcription	Brain Germinal Matrix	brain
16	chr2:10733600-10747400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr2:10735800-10747600	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr2:10736000-10747600	Strong transcription	Primary T helper cells fromperipheralblood	blood
19	chr2:10736200-10747600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr2:10736400-10747600	Strong transcription	Primary T helper cells PMA-I stimulated	--
21	chr2:10736600-10747600	Strong transcription	Primary T cells fromperipheralblood	blood
22	chr2:10737000-10755800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr2:10737600-10747600	Strong transcription	HUES64 Cell Line	embryonic stem cell
24	chr2:10738400-10766600	Weak transcription	Fetal Kidney	kidney
25	chr2:10738800-10750400	Weak transcription	HUVEC	blood vessel
26	chr2:10738800-10754600	Weak transcription	HMEC	breast
27	chr2:10739800-10747600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr2:10740200-10759800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr2:10740200-10782000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr2:10740400-10757200	Weak transcription	Brain Substantia Nigra	brain
31	chr2:10741400-10747400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr2:10741400-10747400	Strong transcription	Adipose Nuclei	Adipose
33	chr2:10741400-10747600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr2:10741400-10747600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr2:10741600-10747600	Strong transcription	Liver	Liver
36	chr2:10742200-10757600	Weak transcription	Brain Hippocampus Middle	brain
37	chr2:10742400-10749200	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr2:10742400-10755600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr2:10742400-10757600	Weak transcription	Brain Cingulate Gyrus	brain
40	chr2:10742400-10773800	Weak transcription	Primary neutrophils fromperipheralblood	blood
41	chr2:10742400-10774400	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr2:10742600-10760800	Weak transcription	Ovary	ovary
43	chr2:10742600-10772200	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr2:10742600-10791000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr2:10742800-10760000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr2:10742800-10760000	Weak transcription	Fetal Brain Female	brain
47	chr2:10742800-10760600	Weak transcription	Brain Anterior Caudate	brain
48	chr2:10742800-10782400	Weak transcription	Esophagus	oesophagus
49	chr2:10743000-10757200	Weak transcription	Hela-S3	cervix
50	chr2:10743200-10748200	Weak transcription	Rectal Mucosa Donor 31	rectum

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