Variant report

Variant	rs2805802
Chromosome Location	chr9:100338432-100338433
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	chr9:100315064..100317144-chr9:100338038..100339669,2	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10123528	1.00[JPT][hapmap]
rs1536950	0.89[ASN][1000 genomes]
rs16922598	1.00[JPT][hapmap]
rs2149984	0.90[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2245694	0.81[CEU][hapmap]
rs2254733	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2773343	0.81[CEU][hapmap]
rs2773344	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs2773349	0.82[EUR][1000 genomes]
rs2773350	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs2773354	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2773358	0.83[EUR][1000 genomes]
rs2805768	1.00[JPT][hapmap]
rs2805771	1.00[JPT][hapmap]
rs2805773	1.00[JPT][hapmap]
rs2805774	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes]
rs2805778	1.00[JPT][hapmap]
rs2805785	0.81[CEU][hapmap]
rs2805786	0.83[EUR][1000 genomes]
rs2805788	0.83[EUR][1000 genomes]
rs2805792	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2805793	0.86[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2805804	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2805805	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2805808	0.94[ASN][1000 genomes]
rs2805810	0.89[ASN][1000 genomes]
rs2805831	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2805835	1.00[JPT][hapmap]
rs2808682	1.00[JPT][hapmap]
rs7863516	0.88[ASN][1000 genomes]
rs932916	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]

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	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

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:100327000-100349200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr9:100327200-100340000	Weak transcription	Fetal Stomach	stomach
3	chr9:100330400-100339400	Weak transcription	Brain Germinal Matrix	brain
4	chr9:100333400-100340800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr9:100333600-100339400	Weak transcription	Pancreas	Pancrea
6	chr9:100333600-100341400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr9:100333600-100361800	Weak transcription	Gastric	stomach
8	chr9:100334200-100340800	Weak transcription	Psoas Muscle	Psoas
9	chr9:100334200-100356000	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr9:100334400-100338600	Strong transcription	Stomach Smooth Muscle	stomach
11	chr9:100334400-100356000	Weak transcription	Brain Cingulate Gyrus	brain
12	chr9:100334400-100356400	Weak transcription	HSMMtube	muscle
13	chr9:100334600-100339400	Weak transcription	Lung	lung
14	chr9:100334600-100353600	Weak transcription	Colon Smooth Muscle	Colon
15	chr9:100334800-100338600	Strong transcription	Skeletal Muscle Male	skeletal muscle
16	chr9:100334800-100355600	Weak transcription	Rectal Smooth Muscle	rectum
17	chr9:100335000-100341800	Weak transcription	Fetal Heart	heart
18	chr9:100335400-100341000	Weak transcription	Right Ventricle	heart
19	chr9:100335600-100338600	Weak transcription	Liver	Liver
20	chr9:100335600-100356600	Weak transcription	Brain Angular Gyrus	brain
21	chr9:100336200-100340200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr9:100336200-100349200	Weak transcription	K562	blood
23	chr9:100336200-100356200	Weak transcription	Aorta	Aorta
24	chr9:100336200-100360000	Weak transcription	Brain Substantia Nigra	brain
25	chr9:100337000-100338600	Active TSS	Primary T regulatory cells fromperipheralblood	blood
26	chr9:100337800-100338600	Strong transcription	Fetal Muscle Leg	muscle
27	chr9:100337800-100341400	Weak transcription	Fetal Brain Female	brain
28	chr9:100338000-100338600	Enhancers	Primary B cells from cord blood	blood
29	chr9:100338000-100338600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
30	chr9:100338000-100339200	Weak transcription	Adipose Nuclei	Adipose
31	chr9:100338200-100338600	Enhancers	Primary T cells fromperipheralblood	blood
32	chr9:100338200-100338600	Enhancers	Primary T helper cells PMA-I stimulated	--
33	chr9:100338200-100338600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
34	chr9:100338200-100338600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr9:100338200-100338800	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr9:100338200-100340800	Weak transcription	Brain Hippocampus Middle	brain
37	chr9:100338200-100340800	Weak transcription	Left Ventricle	heart
38	chr9:100338200-100340800	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr9:100338200-100356200	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr9:100338200-100356800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr9:100338400-100338600	Enhancers	Monocytes-CD14+_RO01746	blood
42	chr9:100338400-100338800	Enhancers	Primary B cells from peripheral blood	blood
43	chr9:100338400-100339400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr9:100338400-100341000	Weak transcription	Ovary	ovary
45	chr9:100338400-100341800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr9:100338400-100353400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr9:100338400-100356000	Weak transcription	Brain Anterior Caudate	brain
48	chr9:100338400-100361600	Weak transcription	Pancreatic Islets	Pancreatic Islet

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