Variant report

Variant	rs1330238
Chromosome Location	chr9:72358344-72358345
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:72348177..72350714-chr9:72357475..72359736,2	K562	blood:
2	chr9:72357421..72360340-chr9:72369616..72371196,2	K562	blood:
3	chr9:72356477..72360679-chr9:72371411..72377494,6	K562	blood:

Variant related genes	Relation type
ENSG00000188647	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10118222	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10119846	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10217776	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10735560	0.95[AFR][1000 genomes];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10746706	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10746707	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10780585	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10780610	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10867922	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10868056	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11139996	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1330240	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1330332	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1411410	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1411413	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1536992	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1536994	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1547690	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1576482	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1576483	1.00[CEU][hapmap];0.84[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1980934	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2026794	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2150045	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2252130	0.96[ASN][1000 genomes]
rs2274745	1.00[ASN][1000 genomes]
rs2309531	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4535802	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4535803	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7023462	0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7037769	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7039383	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7851707	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7867543	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv471309	chr9:72273898-72410323	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS 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 miRNA target site	10 gene(s)	inside rSNPs	diseases
2	nsv1048622	chr9:72303617-72371795	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv1050920	chr9:72345297-72579301	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:72323600-72360800	Strong transcription	HUES64 Cell Line	embryonic stem cell
2	chr9:72324200-72361000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
3	chr9:72324600-72359800	Strong transcription	HUES48 Cell Line	embryonic stem cell
4	chr9:72325000-72358800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr9:72327800-72366800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr9:72333400-72374000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr9:72336600-72359400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr9:72337400-72366400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr9:72345400-72359000	Weak transcription	Pancreas	Pancrea
10	chr9:72346600-72360000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr9:72347000-72364600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr9:72347200-72358800	Weak transcription	Fetal Heart	heart
13	chr9:72347200-72360600	Weak transcription	Brain Substantia Nigra	brain
14	chr9:72347200-72361600	Weak transcription	Ovary	ovary
15	chr9:72347200-72364800	Weak transcription	Fetal Brain Female	brain
16	chr9:72347200-72371400	Weak transcription	Small Intestine	intestine
17	chr9:72347200-72373400	Weak transcription	Esophagus	oesophagus
18	chr9:72347200-72373400	Weak transcription	Fetal Intestine Small	intestine
19	chr9:72347200-72374200	Weak transcription	Spleen	Spleen
20	chr9:72347400-72361800	Weak transcription	Brain Germinal Matrix	brain
21	chr9:72347400-72362200	Weak transcription	Aorta	Aorta
22	chr9:72347400-72374000	Weak transcription	Gastric	stomach
23	chr9:72347600-72362200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr9:72347600-72362600	Weak transcription	Right Ventricle	heart
25	chr9:72347600-72368400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr9:72348200-72361800	Weak transcription	Fetal Brain Male	brain
27	chr9:72348400-72363800	Weak transcription	Brain Cingulate Gyrus	brain
28	chr9:72348600-72364000	Weak transcription	Colonic Mucosa	Colon
29	chr9:72348800-72358800	Weak transcription	HepG2	liver
30	chr9:72348800-72359000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr9:72348800-72359800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr9:72348800-72362000	Weak transcription	Fetal Muscle Leg	muscle
33	chr9:72348800-72362200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr9:72348800-72362200	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr9:72348800-72362400	Weak transcription	Lung	lung
36	chr9:72348800-72368600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr9:72348800-72373000	Weak transcription	Stomach Smooth Muscle	stomach
38	chr9:72348800-72373000	Weak transcription	NHEK	skin
39	chr9:72348800-72373200	Weak transcription	Rectal Smooth Muscle	rectum
40	chr9:72349000-72359000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr9:72349000-72359800	Weak transcription	K562	blood
42	chr9:72349000-72360400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr9:72349000-72360400	Weak transcription	Brain Anterior Caudate	brain
44	chr9:72349000-72360400	Weak transcription	Brain Hippocampus Middle	brain
45	chr9:72349000-72360400	Weak transcription	Colon Smooth Muscle	Colon
46	chr9:72349000-72360800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr9:72349000-72360800	Weak transcription	Stomach Mucosa	stomach
48	chr9:72349000-72361200	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr9:72349000-72362200	Weak transcription	Brain Angular Gyrus	brain
50	chr9:72349200-72359600	Weak transcription	Skeletal Muscle Female	skeletal muscle

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