Variant report

Variant	rs12451862
Chromosome Location	chr17:59767407-59767408
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:59764767..59767595-chr17:59891834..59893836,2	MCF-7	breast:
2	chr17:59765474..59767934-chr17:76354908..76357266,2	MCF-7	breast:
3	chr17:59765135..59767717-chr17:59913157..59914673,2	MCF-7	breast:
4	chr14:38065586..38067163-chr17:59765221..59767860,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000266970	Chromatin interaction
ENSG00000184557	Chromatin interaction

Extended variants
information (count: 121 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:120)

rs_ID	r²[population]
rs1015771	0.95[CEU][hapmap];0.86[EUR][1000 genomes]
rs10221278	1.00[CEU][hapmap];0.94[CHB][hapmap];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10438771	1.00[CEU][hapmap];0.88[CHB][hapmap];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10468558	1.00[CEU][hapmap];0.88[CHB][hapmap];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10515206	1.00[CEU][hapmap];0.82[CHB][hapmap];0.86[EUR][1000 genomes]
rs10515207	0.94[CEU][hapmap];0.88[CHB][hapmap];0.85[EUR][1000 genomes]
rs10515211	0.90[CEU][hapmap]
rs10853038	1.00[CEU][hapmap];0.88[CHB][hapmap];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10853039	0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11079445	1.00[CEU][hapmap];0.88[CHB][hapmap];0.87[EUR][1000 genomes]
rs11079446	0.87[EUR][1000 genomes]
rs11079448	0.87[EUR][1000 genomes]
rs11650471	1.00[CEU][hapmap];0.88[CHB][hapmap];0.87[EUR][1000 genomes]
rs11651510	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11871753	0.90[CEU][hapmap];0.86[EUR][1000 genomes]
rs12449319	0.87[EUR][1000 genomes]
rs12450027	0.86[EUR][1000 genomes]
rs12453293	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12453801	1.00[CEU][hapmap];0.88[CHB][hapmap];0.87[EUR][1000 genomes]
rs12453966	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12603485	0.86[EUR][1000 genomes]
rs12603617	1.00[CEU][hapmap];0.94[CHB][hapmap];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12937232	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12949659	0.90[CEU][hapmap]
rs12950438	0.86[EUR][1000 genomes]
rs1468577	0.90[CEU][hapmap]
rs1541346	1.00[CEU][hapmap];0.88[CHB][hapmap];0.86[EUR][1000 genomes]
rs16945500	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs17532528	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1978244	0.90[CEU][hapmap]
rs1990338	0.90[CEU][hapmap]
rs2024188	0.86[EUR][1000 genomes]
rs2040608	1.00[CEU][hapmap];0.81[CHB][hapmap];0.86[EUR][1000 genomes]
rs2109252	0.85[EUR][1000 genomes]
rs2109254	0.85[EUR][1000 genomes]
rs2109255	0.85[EUR][1000 genomes]
rs2158006	0.85[EUR][1000 genomes]
rs2159450	0.85[EUR][1000 genomes]
rs2188731	0.86[EUR][1000 genomes]
rs2191247	0.85[EUR][1000 genomes]
rs2191249	0.95[CEU][hapmap];0.86[EUR][1000 genomes]
rs2214184	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2378874	0.86[EUR][1000 genomes]
rs2378875	0.86[EUR][1000 genomes]
rs2378884	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2378902	0.85[EUR][1000 genomes]
rs2378905	0.90[CEU][hapmap]
rs28571892	0.86[EUR][1000 genomes]
rs2890012	1.00[CEU][hapmap];0.91[CHB][hapmap];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2890013	1.00[CEU][hapmap];0.88[CHB][hapmap];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2890021	0.95[CEU][hapmap];0.86[EUR][1000 genomes]
rs36031690	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4309463	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4343344	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4580256	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4968444	1.00[CEU][hapmap];0.94[CHB][hapmap];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4968447	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4968577	0.86[EUR][1000 genomes]
rs4968579	0.87[EUR][1000 genomes]
rs4968580	0.87[EUR][1000 genomes]
rs4968582	1.00[CEU][hapmap];0.88[CHB][hapmap];0.87[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs4968584	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4968585	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4968588	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55797010	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56284136	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs57099937	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57393813	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61599541	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs62070615	0.87[EUR][1000 genomes]
rs62070616	0.87[EUR][1000 genomes]
rs62070617	0.87[EUR][1000 genomes]
rs62070624	0.83[EUR][1000 genomes]
rs6504066	1.00[CEU][hapmap];0.94[CHB][hapmap];0.95[JPT][hapmap]
rs6504068	0.95[CEU][hapmap];0.86[EUR][1000 genomes]
rs6504070	0.81[EUR][1000 genomes]
rs6504071	0.95[CEU][hapmap]
rs6504072	0.90[CEU][hapmap]
rs67273191	0.86[EUR][1000 genomes]
rs67938055	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs717961	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs717962	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7207074	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7207881	0.95[CEU][hapmap];0.86[EUR][1000 genomes]
rs7208704	0.95[CEU][hapmap]
rs7212172	0.90[CEU][hapmap]
rs7212423	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7213329	0.90[CEU][hapmap]
rs7213470	0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7213587	1.00[CEU][hapmap];1.00[CHB][hapmap];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7213759	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7214884	0.87[CEU][hapmap]
rs7215784	0.90[CEU][hapmap]
rs7216756	0.90[CEU][hapmap]
rs7217206	0.94[CEU][hapmap]
rs7217292	0.85[EUR][1000 genomes]
rs7220688	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7220719	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7222799	0.90[CEU][hapmap]
rs72841508	0.87[EUR][1000 genomes]
rs8074949	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8075370	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8075397	0.87[EUR][1000 genomes]
rs8078977	0.84[CEU][hapmap];0.83[EUR][1000 genomes]
rs8182296	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9303449	1.00[CEU][hapmap];0.87[CHB][hapmap];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9807012	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9895987	0.90[CEU][hapmap]
rs9896013	0.86[EUR][1000 genomes]
rs9897121	0.90[CEU][hapmap]
rs9897450	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9897928	0.95[CEU][hapmap];0.86[EUR][1000 genomes]
rs9901428	0.87[EUR][1000 genomes]
rs9902995	0.95[CEU][hapmap];0.86[EUR][1000 genomes]
rs9903041	0.87[EUR][1000 genomes]
rs9904292	0.90[CEU][hapmap]
rs9904294	0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9905870	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9906313	0.95[CEU][hapmap];0.86[EUR][1000 genomes]
rs9907299	0.89[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3378293	chr17:59744117-60124899	ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	175 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:59751000-59777200	Weak transcription	HepG2	liver
2	chr17:59755600-59778000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr17:59756600-59772600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr17:59756600-59777000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr17:59757000-59772000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr17:59757400-59775600	Weak transcription	A549	lung
7	chr17:59758400-59772400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr17:59758600-59768800	Weak transcription	Fetal Intestine Small	intestine
9	chr17:59759400-59772000	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr17:59759400-59772400	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr17:59759600-59771200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr17:59759800-59769200	Weak transcription	Thymus	Thymus
13	chr17:59759800-59775400	Weak transcription	Primary hematopoietic stem cells	blood
14	chr17:59759800-59776600	Weak transcription	GM12878-XiMat	blood
15	chr17:59760200-59774000	Weak transcription	Hela-S3	cervix
16	chr17:59760800-59767600	Strong transcription	Dnd41	blood
17	chr17:59761200-59772800	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr17:59761400-59771600	Weak transcription	NHDF-Ad	bronchial
19	chr17:59761400-59776000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr17:59761600-59776200	Weak transcription	HUVEC	blood vessel
21	chr17:59762400-59772200	Weak transcription	NHLF	lung
22	chr17:59762600-59777400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr17:59763000-59772000	Weak transcription	Fetal Intestine Large	intestine
24	chr17:59763400-59792800	Weak transcription	NH-A	brain
25	chr17:59763600-59771400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr17:59763800-59772800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr17:59764400-59769000	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr17:59764400-59777000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr17:59764800-59771600	Weak transcription	Brain Germinal Matrix	brain
30	chr17:59765200-59767800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr17:59765600-59767600	Strong transcription	Primary neutrophils fromperipheralblood	blood
32	chr17:59765800-59771400	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr17:59765800-59771600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr17:59765800-59771600	Weak transcription	Fetal Stomach	stomach
35	chr17:59766000-59769200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr17:59766000-59819000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr17:59766200-59768000	Weak transcription	Ovary	ovary
38	chr17:59766600-59767600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr17:59766800-59767600	Strong transcription	HUES6 Cell Line	embryonic stem cell
40	chr17:59767000-59767600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
41	chr17:59767000-59772600	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr17:59767200-59767600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
43	chr17:59767200-59767600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr17:59767200-59767800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr17:59767200-59769200	Weak transcription	Fetal Thymus	thymus
46	chr17:59767200-59771400	Weak transcription	Osteobl	bone
47	chr17:59767400-59768600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr17:59767400-59771600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr17:59767400-59772400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr17:59767400-59773400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell

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