Variant report

Variant	rs9783117
Chromosome Location	chr1:169368301-169368302
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	chr1:169363269..169365266-chr1:169367448..169370534,3	K562	blood:
2	chr1:169353969..169356305-chr1:169367810..169369890,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs1028180	0.81[MEX][hapmap]
rs10800437	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1080266	0.90[CHB][hapmap]
rs1080267	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11802143	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs11808938	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12057602	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12081283	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12097151	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12123168	1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap]
rs12145969	1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap]
rs12741540	1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap]
rs12751062	1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap]
rs12751379	1.00[CEU][hapmap]
rs12753710	1.00[CEU][hapmap];0.80[CHD][hapmap]
rs16862051	1.00[CEU][hapmap]
rs16862093	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16862095	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2066001	0.81[MEX][hapmap]
rs2271762	0.81[MEX][hapmap]
rs3753297	1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap]
rs3753300	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4656181	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6427180	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6688038	1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[JPT][hapmap]
rs6688139	1.00[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap]
rs6703463	1.00[CHB][hapmap];0.90[CHD][hapmap];1.00[JPT][hapmap]
rs7528751	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv10418	chr1:169059628-169621268	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv872531	chr1:169191860-169388193	Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv831871	chr1:169320673-169486680	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:169338200-169369000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:169350200-169368600	Weak transcription	Colonic Mucosa	Colon
3	chr1:169353000-169369800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr1:169354000-169370000	Weak transcription	Aorta	Aorta
5	chr1:169354800-169370600	Weak transcription	Fetal Kidney	kidney
6	chr1:169359200-169368400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr1:169359600-169369800	Weak transcription	NHDF-Ad	bronchial
8	chr1:169360600-169372200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr1:169360800-169369200	Weak transcription	Fetal Intestine Small	intestine
10	chr1:169360800-169370600	Weak transcription	NHLF	lung
11	chr1:169360800-169395200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr1:169361400-169369400	Weak transcription	Rectal Smooth Muscle	rectum
13	chr1:169362200-169370000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr1:169362200-169370000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr1:169362200-169371200	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr1:169362400-169368800	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr1:169362400-169369800	Weak transcription	Fetal Thymus	thymus
18	chr1:169362400-169370000	Weak transcription	Brain Germinal Matrix	brain
19	chr1:169362400-169370000	Weak transcription	Fetal Brain Female	brain
20	chr1:169362600-169369600	Weak transcription	Primary T cells from cord blood	blood
21	chr1:169363400-169368800	Weak transcription	Primary hematopoietic stem cells	blood
22	chr1:169363400-169371200	Weak transcription	Ovary	ovary
23	chr1:169363600-169368800	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr1:169363800-169368600	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr1:169364000-169369000	Weak transcription	Brain Angular Gyrus	brain
26	chr1:169364200-169368600	Weak transcription	HMEC	breast
27	chr1:169364400-169375600	Weak transcription	Brain Anterior Caudate	brain
28	chr1:169364600-169369000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr1:169364800-169368600	Weak transcription	Brain Cingulate Gyrus	brain
30	chr1:169365400-169368800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr1:169365400-169369000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr1:169365400-169370200	Weak transcription	NH-A	brain
33	chr1:169365600-169370800	Weak transcription	Primary neutrophils fromperipheralblood	blood
34	chr1:169365600-169371000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr1:169365600-169371200	Weak transcription	Fetal Lung	lung
36	chr1:169365800-169372400	Weak transcription	HSMM	muscle
37	chr1:169366000-169368400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr1:169366000-169368800	Weak transcription	Placenta	Placenta
39	chr1:169366000-169369000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr1:169366000-169369200	Weak transcription	Adipose Nuclei	Adipose
41	chr1:169366000-169369400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr1:169366000-169370400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr1:169366200-169369000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr1:169366200-169369000	Weak transcription	Liver	Liver
45	chr1:169366200-169369600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr1:169366200-169370000	Weak transcription	Monocytes-CD14+_RO01746	blood
47	chr1:169366800-169368400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr1:169367400-169369000	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr1:169367400-169369000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr1:169367400-169370000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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