Variant report

Variant	rs17401283
Chromosome Location	chr8:126180331-126180332
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	chr8:126178763..126181013-chr8:126182364..126184931,3	MCF-7	breast:

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs12675943	0.84[EUR][1000 genomes]
rs12681602	0.81[CEU][hapmap]
rs13249982	0.82[CEU][hapmap]
rs13253942	1.00[CEU][hapmap];0.82[CHB][hapmap];0.85[JPT][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13254947	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13259062	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13262348	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13264500	0.88[AFR][1000 genomes];0.94[EUR][1000 genomes]
rs13267325	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13273034	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13273231	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13273421	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13277490	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16900452	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17310558	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2384882	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34110249	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34246020	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34298715	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34427316	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34448805	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34461511	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34694976	0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34737949	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34903473	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35033076	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35140299	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35215140	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35336507	0.86[EUR][1000 genomes]
rs35401436	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35475899	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35564243	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35774093	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35822368	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35861494	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35955519	0.86[EUR][1000 genomes]
rs35991395	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36081564	1.00[ASN][1000 genomes]
rs3923300	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4360308	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4477044	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4601329	1.00[CEU][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4871570	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs56135036	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66561774	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66826725	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66929016	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs71516763	0.92[ASN][1000 genomes]
rs71516769	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72720550	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72720569	0.88[EUR][1000 genomes]
rs7461756	0.90[CEU][hapmap]
rs868227	0.90[CEU][hapmap]

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	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	nsv949614	chr8:126063646-126376699	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv917158	chr8:126101990-126255266	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases
4	nsv1022954	chr8:126117811-126180331	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
5	nsv1034798	chr8:126179383-126241525	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126118000-126191800	Weak transcription	Thymus	Thymus
2	chr8:126137600-126213600	Weak transcription	Fetal Stomach	stomach
3	chr8:126138000-126191000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr8:126138000-126197800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr8:126138200-126200400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr8:126138400-126200200	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr8:126142600-126231400	Weak transcription	Stomach Smooth Muscle	stomach
8	chr8:126143000-126193200	Weak transcription	Left Ventricle	heart
9	chr8:126143200-126180600	Weak transcription	Fetal Muscle Leg	muscle
10	chr8:126143200-126186800	Weak transcription	Adipose Nuclei	Adipose
11	chr8:126156600-126180600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr8:126156600-126185400	Weak transcription	Lung	lung
13	chr8:126156600-126199800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr8:126157400-126186400	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr8:126158200-126186600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr8:126158600-126180600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr8:126158600-126185400	Weak transcription	Placenta	Placenta
18	chr8:126160600-126180400	Weak transcription	HUVEC	blood vessel
19	chr8:126160600-126181800	Weak transcription	Right Atrium	heart
20	chr8:126160600-126185400	Weak transcription	Aorta	Aorta
21	chr8:126160600-126187400	Weak transcription	Gastric	stomach
22	chr8:126162200-126186600	Weak transcription	Colon Smooth Muscle	Colon
23	chr8:126162600-126183000	Weak transcription	Psoas Muscle	Psoas
24	chr8:126163200-126180600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr8:126163200-126193200	Weak transcription	Ovary	ovary
26	chr8:126163600-126180600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr8:126164000-126181800	Weak transcription	Fetal Lung	lung
28	chr8:126164200-126185200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr8:126164200-126185400	Weak transcription	HSMMtube	muscle
30	chr8:126164400-126180400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr8:126164400-126181400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr8:126164400-126186000	Weak transcription	NH-A	brain
33	chr8:126164600-126180800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr8:126164600-126186000	Weak transcription	HSMM	muscle
35	chr8:126164800-126186800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr8:126165000-126180400	Weak transcription	NHEK	skin
37	chr8:126165000-126180600	Weak transcription	HMEC	breast
38	chr8:126166000-126200200	Weak transcription	Dnd41	blood
39	chr8:126167000-126187000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr8:126167000-126200400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr8:126169800-126187200	Weak transcription	Colonic Mucosa	Colon
42	chr8:126170600-126200600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr8:126171000-126199200	Weak transcription	Primary T helper cells fromperipheralblood	blood
44	chr8:126171200-126183600	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr8:126171800-126180600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr8:126171800-126181800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr8:126172000-126187000	Weak transcription	Primary hematopoietic stem cells	blood
48	chr8:126172000-126201000	Weak transcription	Fetal Thymus	thymus
49	chr8:126172800-126180400	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr8:126172800-126180600	Weak transcription	Primary T cells from cord blood	blood

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