Variant report

Variant	rs12691499
Chromosome Location	chr1:165687665-165687666
allele	A/C
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:165686828..165687747-chr1:165893999..165894616,2	MCF-7	breast:
2	chr1:165686841..165687811-chr1:165882955..165884387,12	MCF-7	breast:
3	chr1:165686907..165688202-chr1:165883135..165884063,6	MCF-7	breast:
4	chr1:165685761..165688091-chr1:165797394..165800120,2	K562	blood:
5	chr1:165687274..165687987-chr1:165840515..165841104,2	MCF-7	breast:
6	chr1:165686936..165687730-chr1:165893570..165894520,2	MCF-7	breast:
7	chr1:165686871..165688066-chr1:165840434..165841110,4	MCF-7	breast:
8	chr1:165686346..165688021-chr1:165883094..165884168,12	K562	blood:

No data

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10800135	1.00[JPT][hapmap]
rs10800153	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10800154	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10800155	1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10918274	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12133745	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12403369	1.00[JPT][hapmap]
rs12691500	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1547725	1.00[JPT][hapmap]
rs2251768	1.00[JPT][hapmap]
rs2790049	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2790052	1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2790053	1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2814463	0.83[ASN][1000 genomes]
rs2814466	1.00[JPT][hapmap]
rs2814471	1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4233408	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4537525	1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4603103	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4656461	1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4657471	1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4657472	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4657474	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4657475	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4657476	1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4657477	1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6660601	1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6662839	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6668108	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6668885	0.83[EUR][1000 genomes]
rs6696454	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71628393	0.83[ASN][1000 genomes]
rs7518099	1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7524755	1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7528177	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7555523	1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2756102	chr1:165652342-165877342	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv1011720	chr1:165669589-165802516	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:165685200-165695400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:165685200-165696600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr1:165685200-165721600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr1:165685600-165705200	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr1:165687000-165695200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr1:165687400-165687800	Enhancers	ES-I3 Cell Line	embryonic stem cell
7	chr1:165687400-165687800	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr1:165687400-165687800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
9	chr1:165687400-165687800	Enhancers	Dnd41	blood
10	chr1:165687600-165687800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
11	chr1:165687600-165688200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr1:165687600-165694400	Weak transcription	Liver	Liver
13	chr1:165687600-165694400	Weak transcription	Placenta	Placenta
14	chr1:165687600-165694600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr1:165687600-165694800	Weak transcription	Primary monocytes fromperipheralblood	blood
16	chr1:165687600-165694800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr1:165687600-165694800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr1:165687600-165695000	Weak transcription	Primary B cells from peripheral blood	blood
19	chr1:165687600-165695200	Weak transcription	Duodenum Mucosa	Duodenum
20	chr1:165687600-165695200	Weak transcription	NHDF-Ad	bronchial
21	chr1:165687600-165695400	Weak transcription	Osteobl	bone
22	chr1:165687600-165695600	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr1:165687600-165695600	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr1:165687600-165695600	Weak transcription	Fetal Thymus	thymus
25	chr1:165687600-165695800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr1:165687600-165696200	Weak transcription	NHLF	lung
27	chr1:165687600-165696800	Weak transcription	GM12878-XiMat	blood
28	chr1:165687600-165705000	Weak transcription	Thymus	Thymus
29	chr1:165687600-165706000	Weak transcription	HepG2	liver
30	chr1:165687600-165709800	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr1:165687600-165709800	Weak transcription	HUVEC	blood vessel
32	chr1:165687600-165737600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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