Variant report

Variant	rs2773347
Chromosome Location	chr9:100388197-100388198
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10983030	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10983447	0.81[EUR][1000 genomes]
rs1800975	0.92[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[LWK][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2026132	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];0.95[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2036959	0.84[CEU][hapmap]
rs2149986	0.80[ASN][1000 genomes]
rs2668792	0.92[CEU][hapmap]
rs2668798	0.81[EUR][1000 genomes]
rs2773351	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2805767	1.00[CEU][hapmap];0.83[GIH][hapmap];0.95[TSI][hapmap];0.93[EUR][1000 genomes]
rs2805775	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2805777	1.00[CEU][hapmap];0.83[GIH][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes]
rs2805779	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2805791	0.86[ASN][1000 genomes]
rs2805801	0.80[ASN][1000 genomes]
rs2805803	0.85[ASN][1000 genomes]
rs2805806	0.80[ASN][1000 genomes]
rs2805824	0.92[CEU][hapmap]
rs2805828	1.00[CEU][hapmap];1.00[TSI][hapmap];0.84[EUR][1000 genomes]
rs2805829	0.84[EUR][1000 genomes]
rs2805832	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2805837	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2805839	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2808668	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2808673	1.00[CEU][hapmap];1.00[TSI][hapmap];0.84[EUR][1000 genomes]
rs2808675	1.00[CEU][hapmap];1.00[TSI][hapmap];0.84[EUR][1000 genomes]
rs2808677	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs2808686	0.92[CEU][hapmap];0.87[TSI][hapmap]
rs2808703	0.81[AFR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6478325	0.92[EUR][1000 genomes]
rs7853179	0.95[JPT][hapmap]
rs913912	0.87[ASN][1000 genomes]
rs958346	1.00[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[LWK][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1039240	chr9:100292680-100415269	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	nsv540179	chr9:100292680-100415269	Genic enhancers Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
3	nsv893610	chr9:100324086-100496160	Active TSS Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	esv3386581	chr9:100388158-100388280	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:100361800-100389000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr9:100361800-100394000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr9:100363000-100394600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr9:100365800-100389400	Weak transcription	Stomach Mucosa	stomach
5	chr9:100367600-100390400	Weak transcription	Small Intestine	intestine
6	chr9:100368200-100394000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr9:100368200-100394200	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr9:100368400-100394000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr9:100369000-100388200	Strong transcription	Fetal Muscle Leg	muscle
10	chr9:100372200-100388200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr9:100372800-100394000	Weak transcription	Colonic Mucosa	Colon
12	chr9:100373000-100389400	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr9:100373400-100389400	Weak transcription	NHDF-Ad	bronchial
14	chr9:100374000-100394000	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr9:100374600-100393800	Weak transcription	Fetal Kidney	kidney
16	chr9:100377400-100394000	Weak transcription	NHEK	skin
17	chr9:100378400-100388200	Strong transcription	Fetal Lung	lung
18	chr9:100378400-100388400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr9:100378600-100388200	Strong transcription	Stomach Smooth Muscle	stomach
20	chr9:100378600-100388400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr9:100379400-100388200	Strong transcription	Primary T cells from cord blood	blood
22	chr9:100380400-100394400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr9:100381200-100388200	Strong transcription	Fetal Brain Female	brain
24	chr9:100381800-100394200	Weak transcription	HSMMtube	muscle
25	chr9:100382400-100388200	Strong transcription	Fetal Intestine Large	intestine
26	chr9:100382600-100388200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr9:100382800-100388200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr9:100382800-100388200	Strong transcription	Brain Inferior Temporal Lobe	brain
29	chr9:100383000-100388400	Strong transcription	Primary monocytes fromperipheralblood	blood
30	chr9:100383000-100388600	Strong transcription	Fetal Muscle Trunk	muscle
31	chr9:100383200-100389200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr9:100383600-100388200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr9:100383600-100390400	Strong transcription	Monocytes-CD14+_RO01746	blood
34	chr9:100383800-100388200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr9:100383800-100388200	Strong transcription	Liver	Liver
36	chr9:100383800-100388200	Strong transcription	Duodenum Smooth Muscle	Duodenum
37	chr9:100383800-100388200	Strong transcription	Dnd41	blood
38	chr9:100384000-100391200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
39	chr9:100384200-100388200	Strong transcription	Adipose Nuclei	Adipose
40	chr9:100384200-100388200	Strong transcription	Sigmoid Colon	Sigmoid Colon
41	chr9:100384200-100388400	Strong transcription	Fetal Thymus	thymus
42	chr9:100384200-100390400	Weak transcription	Right Ventricle	heart
43	chr9:100384200-100391000	Weak transcription	Right Atrium	heart
44	chr9:100384200-100394000	Weak transcription	Primary hematopoietic stem cells	blood
45	chr9:100384200-100394000	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr9:100385000-100388400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr9:100385000-100391000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr9:100385000-100391000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr9:100385000-100391000	Weak transcription	Spleen	Spleen
50	chr9:100385000-100393800	Weak transcription	Fetal Intestine Small	intestine

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