Variant report

Variant	rs11791916
Chromosome Location	chr9:103348998-103348999
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:103343959..103345559-chr9:103347330..103349495,2	K562	blood:
2	chr9:103348301..103352050-chr9:103353631..103357839,4	K562	blood:

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11788011	1.00[CEU][hapmap]
rs11788350	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11788918	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs11789665	1.00[CEU][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11790432	0.87[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap]
rs11792747	1.00[CEU][hapmap]
rs11792926	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap]
rs11793144	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11793359	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.89[MKK][hapmap];1.00[YRI][hapmap]
rs11793457	1.00[CEU][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11794817	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap]
rs13283467	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13284662	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13286835	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs13289939	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13292364	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13294866	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13301847	1.00[CEU][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13302460	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs28759503	0.82[AFR][1000 genomes]
rs34138998	0.80[AMR][1000 genomes]
rs34335039	0.82[AFR][1000 genomes]
rs34999135	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35039632	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35388593	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35394420	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs35729051	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7019804	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs7869547	1.00[CEU][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv893623	chr9:102648036-103405197	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:103327800-103349400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr9:103329600-103360800	Weak transcription	Aorta	Aorta
3	chr9:103329800-103351800	Weak transcription	Ovary	ovary
4	chr9:103330000-103357800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr9:103330400-103351600	Weak transcription	Fetal Stomach	stomach
6	chr9:103330800-103349400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr9:103331600-103360200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr9:103332400-103351600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr9:103332400-103357600	Weak transcription	Fetal Lung	lung
10	chr9:103333600-103360800	Weak transcription	Fetal Brain Male	brain
11	chr9:103334200-103351000	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr9:103334600-103350600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr9:103334800-103350200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr9:103335000-103351000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
15	chr9:103337600-103352200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr9:103338800-103352200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr9:103340600-103351800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr9:103340800-103351400	Weak transcription	NHDF-Ad	bronchial
19	chr9:103341000-103351400	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr9:103341800-103349000	Weak transcription	HUVEC	blood vessel
21	chr9:103342600-103350400	Strong transcription	H1 Cell Line	embryonic stem cell
22	chr9:103342800-103351200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
23	chr9:103343000-103349200	Weak transcription	NH-A	brain
24	chr9:103343000-103349600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr9:103343200-103360600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr9:103344200-103352200	Weak transcription	Brain Angular Gyrus	brain
27	chr9:103344400-103350000	Strong transcription	HUES6 Cell Line	embryonic stem cell
28	chr9:103345000-103349000	Weak transcription	Right Ventricle	heart
29	chr9:103345600-103349400	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr9:103345800-103349600	Genic enhancers	HSMMtube	muscle
31	chr9:103345800-103351800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr9:103346000-103349400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr9:103346200-103359800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr9:103346600-103349600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr9:103346600-103350800	Strong transcription	HUES48 Cell Line	embryonic stem cell
36	chr9:103346600-103353600	Weak transcription	Psoas Muscle	Psoas
37	chr9:103346800-103349000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr9:103347200-103349800	Strong transcription	Fetal Muscle Trunk	muscle
39	chr9:103347400-103349400	Weak transcription	Fetal Heart	heart
40	chr9:103347400-103350000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr9:103347600-103349400	Genic enhancers	HSMM	muscle
42	chr9:103347600-103350000	Strong transcription	Fetal Muscle Leg	muscle
43	chr9:103347600-103350000	Strong transcription	Skeletal Muscle Male	skeletal muscle
44	chr9:103347800-103349200	Strong transcription	Brain Cingulate Gyrus	brain
45	chr9:103347800-103349600	Strong transcription	Left Ventricle	heart
46	chr9:103347800-103349800	Strong transcription	Brain Germinal Matrix	brain
47	chr9:103347800-103350200	Strong transcription	Fetal Brain Female	brain
48	chr9:103348000-103349200	Strong transcription	Brain Anterior Caudate	brain
49	chr9:103348000-103350000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr9:103348200-103349600	Strong transcription	Cortex derived primary cultured neurospheres	brain

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