Variant report

Variant	rs12759551
Chromosome Location	chr1:150395663-150395664
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:150391529..150393386-chr1:150395586..150398610,3	MCF-7	breast:
2	chr1:150385414..150388424-chr1:150393521..150397024,3	MCF-7	breast:
3	chr1:150336266..150340642-chr1:150391062..150397283,8	MCF-7	breast:
4	chr1:150356963..150359015-chr1:150394408..150396824,2	MCF-7	breast:
5	chr1:150334171..150339749-chr1:150394614..150400198,11	MCF-7	breast:
6	chr1:150378476..150380511-chr1:150393707..150396568,2	MCF-7	breast:
7	chr1:150394478..150396738-chr1:150400697..150402493,2	MCF-7	breast:
8	chr1:150393940..150396918-chr1:150398839..150401490,2	K562	blood:
9	chr1:150391097..150393355-chr1:150394398..150396037,2	K562	blood:
10	chr1:150391097..150394141-chr1:150394398..150396693,3	K562	blood:
11	chr1:150388175..150390197-chr1:150391768..150396688,4	MCF-7	breast:
12	chr1:150394629..150396714-chr1:150435295..150436883,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000163125	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs11799813	1.00[CEU][hapmap];1.00[GIH][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11800656	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11801190	1.00[ASN][1000 genomes]
rs11801255	0.88[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11802612	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11803448	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11806171	1.00[CEU][hapmap];1.00[GIH][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11807119	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11809332	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11810419	1.00[CEU][hapmap];0.83[GIH][hapmap];0.91[TSI][hapmap]
rs12718416	0.82[EUR][1000 genomes]
rs12723364	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12724450	1.00[CEU][hapmap];1.00[GIH][hapmap];0.91[TSI][hapmap];0.92[YRI][hapmap];1.00[ASN][1000 genomes]
rs12729727	1.00[ASN][1000 genomes]
rs12730265	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12733783	0.80[EUR][1000 genomes]
rs12735903	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12736584	1.00[ASN][1000 genomes]
rs12743761	1.00[ASN][1000 genomes]
rs12745672	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs12747619	1.00[CEU][hapmap]
rs12749958	1.00[ASN][1000 genomes]
rs12756583	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28495360	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34001546	1.00[CEU][hapmap];1.00[GIH][hapmap];0.91[TSI][hapmap];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34233130	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34307322	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34347495	1.00[ASN][1000 genomes]
rs34448981	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34514406	1.00[ASN][1000 genomes]
rs34542152	1.00[ASN][1000 genomes]
rs34609268	1.00[ASN][1000 genomes]
rs34629240	0.85[EUR][1000 genomes]
rs34696422	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34964511	1.00[ASN][1000 genomes]
rs35094010	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35347210	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35437473	1.00[ASN][1000 genomes]
rs35762205	1.00[ASN][1000 genomes]
rs35839143	1.00[ASN][1000 genomes]
rs35935423	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4845	1.00[CEU][hapmap];1.00[ASN][1000 genomes]
rs56214117	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57323357	0.96[EUR][1000 genomes]
rs58427317	1.00[ASN][1000 genomes]
rs58853199	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61817552	0.84[AFR][1000 genomes]
rs71515775	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71622688	1.00[ASN][1000 genomes]
rs71622689	1.00[ASN][1000 genomes]
rs71622694	1.00[ASN][1000 genomes]
rs71622695	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71622696	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71622697	0.88[EUR][1000 genomes]
rs71622698	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71622702	1.00[ASN][1000 genomes]
rs74124663	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74124686	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7517003	1.00[ASN][1000 genomes]
rs7535275	1.00[ASN][1000 genomes]
rs7546610	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	nsv916014	chr1:150187139-150537483	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	164 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:150338400-150405200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr1:150340000-150416800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr1:150362600-150416600	Weak transcription	Skeletal Muscle Male	skeletal muscle
4	chr1:150370000-150407800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr1:150373200-150442800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:150380600-150429800	Weak transcription	Aorta	Aorta
7	chr1:150381200-150414400	Weak transcription	Fetal Brain Female	brain
8	chr1:150381800-150398400	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr1:150381800-150401200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
10	chr1:150381800-150417400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr1:150382000-150418200	Weak transcription	Colonic Mucosa	Colon
12	chr1:150382000-150432400	Weak transcription	Fetal Brain Male	brain
13	chr1:150382400-150407800	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr1:150382600-150414400	Weak transcription	Lung	lung
15	chr1:150382800-150412800	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr1:150382800-150414600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr1:150382800-150414800	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr1:150383000-150416600	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr1:150383400-150401000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr1:150383400-150413800	Weak transcription	Brain Hippocampus Middle	brain
21	chr1:150383400-150414000	Weak transcription	NH-A	brain
22	chr1:150383400-150414200	Weak transcription	Left Ventricle	heart
23	chr1:150383400-150414200	Weak transcription	Osteobl	bone
24	chr1:150383400-150419000	Weak transcription	Fetal Kidney	kidney
25	chr1:150383400-150419000	Weak transcription	Gastric	stomach
26	chr1:150383400-150432200	Weak transcription	Right Ventricle	heart
27	chr1:150383400-150443200	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr1:150383600-150416800	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr1:150383600-150418200	Weak transcription	Pancreas	Pancrea
30	chr1:150385000-150407800	Weak transcription	HepG2	liver
31	chr1:150385600-150415000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr1:150386800-150429800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr1:150387000-150414600	Weak transcription	Rectal Smooth Muscle	rectum
34	chr1:150387000-150414800	Weak transcription	Brain Germinal Matrix	brain
35	chr1:150388600-150416600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr1:150388600-150416600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr1:150388600-150416800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr1:150388800-150408000	Weak transcription	Primary hematopoietic stem cells	blood
39	chr1:150388800-150413800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
40	chr1:150389400-150395800	Strong transcription	Fetal Thymus	thymus
41	chr1:150389400-150423400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr1:150389600-150399000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr1:150389600-150405600	Strong transcription	Dnd41	blood
44	chr1:150389600-150417000	Weak transcription	HMEC	breast
45	chr1:150390000-150429600	Weak transcription	A549	lung
46	chr1:150390200-150416400	Weak transcription	Colon Smooth Muscle	Colon
47	chr1:150391600-150414400	Weak transcription	Ovary	ovary
48	chr1:150391600-150416800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr1:150391800-150414200	Weak transcription	Placenta	Placenta
50	chr1:150391800-150416800	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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