Variant report

Variant	rs9678985
Chromosome Location	chr2:10751843-10751844
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:10750874..10753173-chr2:10784060..10785626,2	MCF-7	breast:

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10207845	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1023587	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1023588	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10490187	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11673879	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11681219	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11684569	0.81[ASN][1000 genomes]
rs12476022	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12621903	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs13019722	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13035291	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1990614	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2015525	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2110779	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2287063	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34140737	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34562923	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34565728	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34851538	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34965800	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35364825	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35454548	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35688901	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36065209	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3732111	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3821196	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4668692	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4669597	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4669600	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4669601	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56403646	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56902481	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59199925	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62127163	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62127196	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6432106	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6432108	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6432127	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6432129	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6716907	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6733161	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6752034	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6752145	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7579314	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7594513	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7594816	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	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
4	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
5	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:120 , 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	chr2:10729200-10754200	Weak transcription	NHLF	lung
6	chr2:10729200-10760000	Weak transcription	Brain Angular Gyrus	brain
7	chr2:10729400-10781800	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr2:10729400-10798400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr2:10730800-10774400	Weak transcription	Psoas Muscle	Psoas
10	chr2:10731400-10752000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
11	chr2:10732000-10777600	Weak transcription	Rectal Smooth Muscle	rectum
12	chr2:10732600-10754400	Weak transcription	Brain Germinal Matrix	brain
13	chr2:10737000-10755800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr2:10738400-10766600	Weak transcription	Fetal Kidney	kidney
15	chr2:10738800-10754600	Weak transcription	HMEC	breast
16	chr2:10740200-10759800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr2:10740200-10782000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr2:10740400-10757200	Weak transcription	Brain Substantia Nigra	brain
19	chr2:10742200-10757600	Weak transcription	Brain Hippocampus Middle	brain
20	chr2:10742400-10755600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr2:10742400-10757600	Weak transcription	Brain Cingulate Gyrus	brain
22	chr2:10742400-10773800	Weak transcription	Primary neutrophils fromperipheralblood	blood
23	chr2:10742400-10774400	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr2:10742600-10760800	Weak transcription	Ovary	ovary
25	chr2:10742600-10772200	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr2:10742600-10791000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr2:10742800-10760000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr2:10742800-10760000	Weak transcription	Fetal Brain Female	brain
29	chr2:10742800-10760600	Weak transcription	Brain Anterior Caudate	brain
30	chr2:10742800-10782400	Weak transcription	Esophagus	oesophagus
31	chr2:10743000-10757200	Weak transcription	Hela-S3	cervix
32	chr2:10743800-10760800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr2:10744400-10757200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr2:10744400-10757200	Weak transcription	Lung	lung
35	chr2:10744400-10777000	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr2:10745000-10754400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
37	chr2:10745000-10755000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr2:10745200-10772400	Weak transcription	Colon Smooth Muscle	Colon
39	chr2:10745600-10757200	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr2:10745600-10759200	Weak transcription	Primary B cells from cord blood	blood
41	chr2:10746000-10760600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
42	chr2:10746400-10754400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr2:10746400-10754400	Weak transcription	NHDF-Ad	bronchial
44	chr2:10746400-10755000	Weak transcription	HSMM	muscle
45	chr2:10746400-10755000	Weak transcription	NH-A	brain
46	chr2:10746400-10757200	Weak transcription	Dnd41	blood
47	chr2:10746400-10757600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr2:10746400-10759800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr2:10746400-10764000	Weak transcription	Primary hematopoietic stem cells	blood
50	chr2:10746600-10754400	Weak transcription	Fetal Lung	lung

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