Variant report

Variant	rs7869547
Chromosome Location	chr9:103313432-103313433
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	chr9:103286876..103289337-chr9:103312993..103315627,2	K562	blood:

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs11788011	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs11788350	1.00[CEU][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11788918	1.00[CEU][hapmap];1.00[YRI][hapmap];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11789665	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11790432	0.82[CEU][hapmap];0.80[AMR][1000 genomes]
rs11791916	1.00[CEU][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11792489	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11792747	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11792926	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11793144	1.00[CEU][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11793359	1.00[CEU][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11793457	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11794817	1.00[CEU][hapmap];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13283467	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13284662	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13286180	0.80[AMR][1000 genomes]
rs13286835	0.82[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs13289939	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13292364	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13294866	1.00[CEU][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13301847	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs13302460	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28759503	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes]
rs34138998	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs34169031	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34234519	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34335039	1.00[AFR][1000 genomes]
rs34390257	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34555593	0.80[AMR][1000 genomes]
rs34759817	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34779059	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34798346	0.80[AMR][1000 genomes]
rs34999135	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35039632	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35255178	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35315430	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35388593	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35394420	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35495064	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs35656901	0.80[AMR][1000 genomes]
rs35729051	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs36011161	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs36055955	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs36105493	0.80[AMR][1000 genomes]
rs55693063	0.82[AFR][1000 genomes];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7019804	1.00[CEU][hapmap];1.00[YRI][hapmap];0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs71507684	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs71507685	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs71507686	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs71507687	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9696536	0.80[AMR][1000 genomes];0.89[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:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:103261600-103340200	Weak transcription	Left Ventricle	heart
2	chr9:103263400-103327600	Weak transcription	Aorta	Aorta
3	chr9:103273600-103337600	Weak transcription	NHDF-Ad	bronchial
4	chr9:103278400-103333000	Weak transcription	Fetal Brain Male	brain
5	chr9:103296800-103316600	Weak transcription	HSMMtube	muscle
6	chr9:103300200-103327400	Weak transcription	Ovary	ovary
7	chr9:103300800-103319800	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr9:103307400-103316200	Weak transcription	Brain Substantia Nigra	brain
9	chr9:103307400-103316600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr9:103307400-103316600	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr9:103307400-103317400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr9:103307400-103323600	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr9:103307400-103331800	Weak transcription	Gastric	stomach
14	chr9:103307400-103332200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
15	chr9:103307400-103341800	Strong transcription	HUES48 Cell Line	embryonic stem cell
16	chr9:103307400-103347800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr9:103307600-103320600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr9:103307800-103313600	Weak transcription	Fetal Stomach	stomach
19	chr9:103308000-103319400	Strong transcription	HUES6 Cell Line	embryonic stem cell
20	chr9:103308000-103321400	Strong transcription	HUES64 Cell Line	embryonic stem cell
21	chr9:103308000-103321600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
22	chr9:103308000-103327200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr9:103308000-103340200	Weak transcription	Fetal Muscle Trunk	muscle
24	chr9:103308600-103345400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr9:103309200-103317800	Weak transcription	NH-A	brain
26	chr9:103309400-103318000	Strong transcription	H1 Cell Line	embryonic stem cell
27	chr9:103309800-103317400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr9:103310000-103320600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr9:103311000-103314400	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr9:103311000-103316800	Strong transcription	Fetal Brain Female	brain
31	chr9:103311000-103328400	Weak transcription	Fetal Heart	heart
32	chr9:103311600-103316400	Weak transcription	Brain Hippocampus Middle	brain
33	chr9:103311600-103330400	Weak transcription	Stomach Smooth Muscle	stomach
34	chr9:103311800-103319600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr9:103311800-103321800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr9:103311800-103342400	Weak transcription	Primary hematopoietic stem cells	blood
37	chr9:103312000-103313800	Strong transcription	HSMM	muscle
38	chr9:103312000-103316600	Weak transcription	Brain Angular Gyrus	brain
39	chr9:103312000-103319600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr9:103312000-103327200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr9:103312200-103314600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr9:103312200-103328200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr9:103312400-103313800	Strong transcription	Brain Cingulate Gyrus	brain
44	chr9:103313000-103314000	Strong transcription	Cortex derived primary cultured neurospheres	brain
45	chr9:103313000-103314800	Weak transcription	Brain Germinal Matrix	brain
46	chr9:103313000-103318400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
47	chr9:103313200-103314800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr9:103313200-103314800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr9:103313200-103316800	Weak transcription	Fetal Kidney	kidney
50	chr9:103313200-103317600	Weak transcription	Brain Anterior Caudate	brain

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