Variant report

Variant	rs2119010
Chromosome Location	chr15:93555717-93555718
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	chr15:93547722..93549714-chr15:93553501..93555795,2	MCF-7	breast:

Extended variants
information (count: 38 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10520717	1.00[ASW][hapmap];0.95[CEU][hapmap];0.93[MEX][hapmap];0.89[TSI][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10520719	0.81[CEU][hapmap]
rs11074126	0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs11074127	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11630582	0.81[CEU][hapmap];0.93[MEX][hapmap];0.82[TSI][hapmap];0.80[AMR][1000 genomes]
rs11631553	0.82[AMR][1000 genomes]
rs11632522	0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11634204	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11634207	0.81[CEU][hapmap];0.93[MEX][hapmap]
rs12901950	1.00[ASW][hapmap];0.90[CEU][hapmap];0.88[CHB][hapmap];0.84[JPT][hapmap];1.00[MEX][hapmap];0.81[TSI][hapmap];0.81[AMR][1000 genomes]
rs12904680	0.81[CEU][hapmap];0.84[JPT][hapmap];0.84[AMR][1000 genomes]
rs12906132	0.81[CEU][hapmap];0.93[MEX][hapmap];0.82[TSI][hapmap];0.80[AMR][1000 genomes]
rs12907579	0.81[CEU][hapmap]
rs12915072	1.00[ASW][hapmap];0.90[CEU][hapmap];1.00[MEX][hapmap];0.83[TSI][hapmap]
rs12916015	1.00[ASW][hapmap];0.85[CEU][hapmap];0.84[JPT][hapmap];1.00[MEX][hapmap];0.81[TSI][hapmap]
rs1534779	0.81[CEU][hapmap];0.80[AMR][1000 genomes]
rs17525800	0.81[CEU][hapmap];0.80[AMR][1000 genomes]
rs2033844	0.81[CEU][hapmap];0.80[AMR][1000 genomes]
rs2272457	0.81[CEU][hapmap];0.93[MEX][hapmap];0.81[TSI][hapmap]
rs2272459	0.80[AMR][1000 genomes]
rs28540863	0.84[AMR][1000 genomes]
rs28668136	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34234400	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35327372	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs35477598	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs35596808	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs36048863	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3784786	0.85[CEU][hapmap];0.93[MEX][hapmap];0.80[AMR][1000 genomes]
rs3817597	0.93[MEX][hapmap]
rs4778065	0.80[CEU][hapmap]
rs4778067	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56358327	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs66726419	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[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	nsv948738	chr15:93070742-93728147	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	169 gene(s)	inside rSNPs	diseases
2	nsv1049490	chr15:93134405-93591660	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	151 gene(s)	inside rSNPs	diseases
3	nsv530846	chr15:93323949-94030462	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	153 gene(s)	inside rSNPs	diseases
4	nsv948881	chr15:93383740-93603608	Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
5	nsv917347	chr15:93444094-93586814	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	39 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2119010	ZNF710	cis	parietal	SCAN
rs2119010	CHD2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:93493200-93571000	Strong transcription	Dnd41	blood
2	chr15:93493200-93571200	Strong transcription	Rectal Mucosa Donor 29	rectum
3	chr15:93493400-93568600	Strong transcription	Liver	Liver
4	chr15:93493400-93569600	Strong transcription	Placenta	Placenta
5	chr15:93493400-93571000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr15:93493400-93571000	Strong transcription	Rectal Mucosa Donor 31	rectum
7	chr15:93493600-93571400	Strong transcription	HUES6 Cell Line	embryonic stem cell
8	chr15:93493800-93561400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr15:93493800-93571400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
10	chr15:93494000-93568200	Strong transcription	Fetal Thymus	thymus
11	chr15:93494000-93570400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
12	chr15:93494000-93570800	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr15:93494000-93571000	Strong transcription	HUES48 Cell Line	embryonic stem cell
14	chr15:93494000-93571400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr15:93504000-93567800	Strong transcription	Primary neutrophils fromperipheralblood	blood
16	chr15:93505000-93569800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr15:93506000-93569800	Strong transcription	HepG2	liver
18	chr15:93506400-93561800	Strong transcription	A549	lung
19	chr15:93506400-93569600	Strong transcription	Fetal Muscle Trunk	muscle
20	chr15:93509600-93568000	Strong transcription	Primary B cells from cord blood	blood
21	chr15:93509600-93569600	Strong transcription	NHDF-Ad	bronchial
22	chr15:93509600-93571200	Strong transcription	Fetal Lung	lung
23	chr15:93509600-93571400	Strong transcription	Duodenum Mucosa	Duodenum
24	chr15:93509800-93568600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr15:93509800-93572000	Strong transcription	Fetal Intestine Large	intestine
26	chr15:93512800-93560200	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr15:93512800-93567800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr15:93512800-93567800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr15:93512800-93568000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
30	chr15:93513800-93560000	Strong transcription	Fetal Kidney	kidney
31	chr15:93514200-93561000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr15:93514200-93570800	Strong transcription	H1 Cell Line	embryonic stem cell
33	chr15:93515000-93561000	Strong transcription	Monocytes-CD14+_RO01746	blood
34	chr15:93521200-93568200	Strong transcription	Primary hematopoietic stem cells	blood
35	chr15:93521600-93568000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr15:93521800-93569400	Strong transcription	Duodenum Smooth Muscle	Duodenum
37	chr15:93522800-93563200	Strong transcription	GM12878-XiMat	blood
38	chr15:93523000-93570600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr15:93525600-93563600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr15:93525600-93570600	Strong transcription	NH-A	brain
41	chr15:93525800-93560400	Strong transcription	Primary T helper cells PMA-I stimulated	--
42	chr15:93525800-93567000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr15:93525800-93568600	Strong transcription	HUVEC	blood vessel
44	chr15:93526000-93570400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr15:93526200-93570000	Strong transcription	NHEK	skin
46	chr15:93526600-93569800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr15:93526800-93568000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
48	chr15:93526800-93572400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr15:93528000-93570200	Strong transcription	HMEC	breast
50	chr15:93531600-93569600	Strong transcription	K562	blood

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