Variant report

Variant	rs1987634
Chromosome Location	chr9:108298981-108298982
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10115299	0.83[EUR][1000 genomes]
rs10761100	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10816278	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10820809	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10820810	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10820812	0.85[ASN][1000 genomes]
rs10820813	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1327354	0.94[ASN][1000 genomes]
rs1360089	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1806898	0.87[ASN][1000 genomes]
rs1815383	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1960023	0.87[ASN][1000 genomes]
rs2225246	0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2427769	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2518106	0.88[EUR][1000 genomes]
rs2518112	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2518114	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2518116	0.94[ASN][1000 genomes]
rs2518120	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2518123	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2518124	0.87[ASN][1000 genomes]
rs2518128	0.90[EUR][1000 genomes]
rs2518131	0.92[EUR][1000 genomes]
rs2768279	0.94[ASN][1000 genomes]
rs2768280	0.90[EUR][1000 genomes]
rs2768283	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2768290	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2768291	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2768292	0.87[ASN][1000 genomes]
rs2768294	0.92[EUR][1000 genomes]
rs2771038	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2771041	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2771042	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2812303	0.84[EUR][1000 genomes]
rs2812307	0.87[ASN][1000 genomes]
rs2812308	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2812310	0.86[ASN][1000 genomes]
rs4742650	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4742947	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4742948	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6477447	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6477449	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7020083	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7357632	0.94[ASN][1000 genomes]
rs7864020	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053973	chr9:108199177-108300186	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv893692	chr9:108218852-108320988	ZNF genes & repeats Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a
3	nsv1050141	chr9:108219667-108317424	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	n/a
4	nsv1049133	chr9:108292302-108356068	Weak transcription Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a
5	nsv416298	chr9:108295722-108303569	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:108214600-108309800	Weak transcription	HUVEC	blood vessel
2	chr9:108222600-108311400	Weak transcription	Fetal Heart	heart
3	chr9:108242600-108300000	Weak transcription	Brain Anterior Caudate	brain
4	chr9:108268200-108306000	Weak transcription	Brain Angular Gyrus	brain
5	chr9:108272800-108304600	Weak transcription	NHEK	skin
6	chr9:108274400-108299800	Weak transcription	Fetal Lung	lung
7	chr9:108276200-108309200	Weak transcription	Lung	lung
8	chr9:108278800-108305800	Weak transcription	Muscle Satellite Cultured Cells	--
9	chr9:108279000-108311400	Weak transcription	Brain Inferior Temporal Lobe	brain
10	chr9:108279000-108317600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr9:108279200-108313000	Weak transcription	Fetal Muscle Trunk	muscle
12	chr9:108282400-108299600	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr9:108282400-108300000	Weak transcription	HSMMtube	muscle
14	chr9:108282400-108302800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr9:108282400-108302800	Weak transcription	HSMM	muscle
16	chr9:108282400-108312400	Weak transcription	HepG2	liver
17	chr9:108282400-108319800	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr9:108282400-108319800	Weak transcription	Left Ventricle	heart
19	chr9:108282400-108319800	Weak transcription	Psoas Muscle	Psoas
20	chr9:108282600-108319800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr9:108289200-108306200	Weak transcription	Fetal Brain Male	brain
22	chr9:108289800-108309800	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr9:108291800-108310200	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr9:108292600-108305600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr9:108292600-108319800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr9:108293600-108299800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr9:108293800-108319800	Weak transcription	Liver	Liver
28	chr9:108294400-108304400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr9:108294600-108299600	Weak transcription	Duodenum Mucosa	Duodenum
30	chr9:108294600-108305200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr9:108294800-108312000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr9:108294800-108319800	Weak transcription	Hela-S3	cervix
33	chr9:108295600-108305800	Weak transcription	Brain Germinal Matrix	brain
34	chr9:108295600-108305800	Weak transcription	Fetal Intestine Large	intestine
35	chr9:108295600-108319800	Weak transcription	Aorta	Aorta
36	chr9:108296200-108302000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr9:108296200-108303000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr9:108296400-108299200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr9:108296400-108316200	Weak transcription	Rectal Smooth Muscle	rectum
40	chr9:108296800-108299000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr9:108297000-108299000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
42	chr9:108297000-108301200	Weak transcription	Osteobl	bone
43	chr9:108297200-108311800	Weak transcription	Fetal Muscle Leg	muscle
44	chr9:108297600-108306000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr9:108297600-108309200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr9:108297600-108311600	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr9:108297600-108319800	Weak transcription	NHLF	lung
48	chr9:108297800-108300000	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr9:108297800-108302800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr9:108297800-108319200	Weak transcription	Dnd41	blood

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