Variant report

Variant	rs7909386
Chromosome Location	chr10:97306336-97306337
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:97298258..97302790-chr10:97302901..97306757,8	K562	blood:
2	chr10:97305912..97308530-chr10:97311525..97313348,3	K562	blood:
3	chr10:97299536..97302399-chr10:97304637..97306757,4	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10736090	0.86[ASN][1000 genomes]
rs10786220	0.81[CEU][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10786223	0.91[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.93[TSI][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10786224	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1326933	0.87[TSI][hapmap];0.88[EUR][1000 genomes]
rs1326938	0.87[EUR][1000 genomes]
rs1359723	0.81[CEU][hapmap];0.89[GIH][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.93[TSI][hapmap];0.92[EUR][1000 genomes]
rs1409711	1.00[ASW][hapmap];1.00[CHD][hapmap];0.86[ASN][1000 genomes]
rs1409715	0.87[EUR][1000 genomes]
rs1536447	0.80[EUR][1000 genomes]
rs1571132	0.82[TSI][hapmap]
rs1887225	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1887227	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1926817	1.00[CEU][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4457684	0.87[EUR][1000 genomes]
rs7092277	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7098378	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7098531	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7894499	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7896622	0.88[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	esv1808679	chr10:97266478-97316855	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs7909386	EXOSC1	cis	cerebellum	SCAN
rs7909386	TM9SF3	cis	parietal	SCAN
rs7909386	SORBS1	cis	cerebellum	SCAN
rs7909386	CRTAC1	cis	cerebellum	SCAN

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:97289200-97309000	Enhancers	Left Ventricle	heart
2	chr10:97291800-97308600	Enhancers	Colon Smooth Muscle	Colon
3	chr10:97296200-97306400	Enhancers	Liver	Liver
4	chr10:97296400-97311400	Enhancers	Skeletal Muscle Male	skeletal muscle
5	chr10:97296800-97312600	Weak transcription	Placenta	Placenta
6	chr10:97298200-97308200	Enhancers	Fetal Muscle Leg	muscle
7	chr10:97299000-97307200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
8	chr10:97300400-97308800	Enhancers	Psoas Muscle	Psoas
9	chr10:97300800-97307200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr10:97301000-97315200	Enhancers	HepG2	liver
11	chr10:97301400-97306600	Enhancers	Brain Cingulate Gyrus	brain
12	chr10:97301800-97311000	Weak transcription	Colonic Mucosa	Colon
13	chr10:97303000-97306800	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr10:97303000-97309600	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr10:97303200-97306800	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr10:97303600-97307000	Weak transcription	Brain Substantia Nigra	brain
17	chr10:97304200-97306400	Genic enhancers	Fetal Stomach	stomach
18	chr10:97304200-97307600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr10:97304200-97309600	Weak transcription	Fetal Lung	lung
20	chr10:97304200-97310000	Weak transcription	Ovary	ovary
21	chr10:97304200-97310800	Enhancers	Rectal Smooth Muscle	rectum
22	chr10:97304400-97307400	Weak transcription	HUES64 Cell Line	embryonic stem cell
23	chr10:97304400-97307600	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr10:97304600-97306800	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr10:97304600-97307400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr10:97304600-97307600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr10:97304600-97312400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr10:97304800-97306800	Weak transcription	Esophagus	oesophagus
29	chr10:97304800-97307000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr10:97304800-97307000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr10:97304800-97307600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr10:97304800-97310200	Weak transcription	Fetal Brain Male	brain
33	chr10:97305000-97306800	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr10:97305000-97307000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr10:97305000-97311200	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr10:97305000-97311400	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr10:97305200-97306800	Weak transcription	Duodenum Smooth Muscle	Duodenum
38	chr10:97305200-97306800	Weak transcription	Pancreas	Pancrea
39	chr10:97305200-97306800	Weak transcription	Right Ventricle	heart
40	chr10:97305200-97307000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr10:97305200-97318600	Weak transcription	Fetal Muscle Trunk	muscle
42	chr10:97305200-97319000	Weak transcription	HSMM	muscle
43	chr10:97305600-97309800	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr10:97305800-97307000	Weak transcription	Brain Angular Gyrus	brain
45	chr10:97305800-97308600	Weak transcription	Brain Hippocampus Middle	brain
46	chr10:97305800-97309600	Weak transcription	K562	blood
47	chr10:97306000-97306600	ZNF genes & repeats	Fetal Intestine Small	intestine
48	chr10:97306000-97307000	Weak transcription	Aorta	Aorta
49	chr10:97306000-97307200	Weak transcription	Fetal Intestine Large	intestine
50	chr10:97306000-97308200	Enhancers	Stomach Mucosa	stomach

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