Variant report

Variant	rs1926817
Chromosome Location	chr10:97308114-97308115
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:97307694..97310147-chr10:97311672..97314430,2	K562	blood:
2	chr10:97305912..97308530-chr10:97311525..97313348,3	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10736090	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs10786220	0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10786223	1.00[ASW][hapmap];0.91[CEU][hapmap];1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10786224	0.97[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1326931	1.00[YRI][hapmap]
rs1326933	0.87[TSI][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1326936	0.92[YRI][hapmap]
rs1326937	1.00[YRI][hapmap]
rs1326938	1.00[YRI][hapmap];0.88[EUR][1000 genomes]
rs1359723	0.81[CEU][hapmap];0.89[GIH][hapmap];0.89[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1409711	1.00[CHB][hapmap];0.89[CHD][hapmap];1.00[ASN][1000 genomes]
rs1409715	1.00[YRI][hapmap];0.88[EUR][1000 genomes]
rs1536447	0.81[EUR][1000 genomes]
rs1571132	0.82[TSI][hapmap];0.80[EUR][1000 genomes]
rs1609588	1.00[YRI][hapmap]
rs1887225	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1887227	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2031683	1.00[YRI][hapmap]
rs3927490	1.00[YRI][hapmap]
rs4457684	1.00[YRI][hapmap];0.88[EUR][1000 genomes]
rs4918942	1.00[YRI][hapmap]
rs4918945	1.00[YRI][hapmap]
rs4918946	1.00[YRI][hapmap]
rs6584008	1.00[YRI][hapmap]
rs7081926	1.00[YRI][hapmap]
rs7092277	1.00[CEU][hapmap];0.89[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7098378	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7098531	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs7894499	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7896622	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7909386	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]
rs7924227	1.00[YRI][hapmap]
rs943339	1.00[YRI][hapmap]
rs943340	1.00[YRI][hapmap]
rs943348	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 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
2	nsv552022	chr10:97308114-97328227	Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs1926817	EXOSC1	cis	cerebellum	SCAN
rs1926817	TM9SF3	cis	parietal	SCAN
rs1926817	SORBS1	cis	cerebellum	SCAN
rs1926817	CRTAC1	cis	cerebellum	SCAN

Chromatin state (count:61 , 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	chr10:97296400-97311400	Enhancers	Skeletal Muscle Male	skeletal muscle
4	chr10:97296800-97312600	Weak transcription	Placenta	Placenta
5	chr10:97298200-97308200	Enhancers	Fetal Muscle Leg	muscle
6	chr10:97300400-97308800	Enhancers	Psoas Muscle	Psoas
7	chr10:97301000-97315200	Enhancers	HepG2	liver
8	chr10:97301800-97311000	Weak transcription	Colonic Mucosa	Colon
9	chr10:97303000-97309600	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr10:97304200-97309600	Weak transcription	Fetal Lung	lung
11	chr10:97304200-97310000	Weak transcription	Ovary	ovary
12	chr10:97304200-97310800	Enhancers	Rectal Smooth Muscle	rectum
13	chr10:97304600-97312400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr10:97304800-97310200	Weak transcription	Fetal Brain Male	brain
15	chr10:97305000-97311200	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr10:97305000-97311400	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr10:97305200-97318600	Weak transcription	Fetal Muscle Trunk	muscle
18	chr10:97305200-97319000	Weak transcription	HSMM	muscle
19	chr10:97305600-97309800	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr10:97305800-97308600	Weak transcription	Brain Hippocampus Middle	brain
21	chr10:97305800-97309600	Weak transcription	K562	blood
22	chr10:97306000-97308200	Enhancers	Stomach Mucosa	stomach
23	chr10:97306000-97309600	Weak transcription	Fetal Brain Female	brain
24	chr10:97306000-97310000	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr10:97306200-97309000	Enhancers	Right Atrium	heart
26	chr10:97306200-97309200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr10:97306400-97308600	Weak transcription	Liver	Liver
28	chr10:97306600-97311600	Enhancers	Fetal Heart	heart
29	chr10:97306600-97312200	Weak transcription	Fetal Intestine Small	intestine
30	chr10:97306800-97308200	Enhancers	H1 Cell Line	embryonic stem cell
31	chr10:97306800-97311400	Enhancers	Right Ventricle	heart
32	chr10:97306800-97313000	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr10:97307000-97308200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr10:97307000-97309000	Enhancers	Brain Substantia Nigra	brain
35	chr10:97307000-97309600	Enhancers	Aorta	Aorta
36	chr10:97307000-97309600	Weak transcription	Brain Anterior Caudate	brain
37	chr10:97307000-97310400	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr10:97307200-97308400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
39	chr10:97307200-97309400	Weak transcription	Brain Angular Gyrus	brain
40	chr10:97307200-97309600	Weak transcription	Pancreas	Pancrea
41	chr10:97307200-97309800	Weak transcription	Brain Cingulate Gyrus	brain
42	chr10:97307200-97310000	Weak transcription	Lung	lung
43	chr10:97307200-97310600	Weak transcription	Sigmoid Colon	Sigmoid Colon
44	chr10:97307400-97308600	Enhancers	Duodenum Smooth Muscle	Duodenum
45	chr10:97307400-97309400	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr10:97307400-97310800	Weak transcription	Esophagus	oesophagus
47	chr10:97307600-97308200	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr10:97307600-97308200	Enhancers	H9 Cell Line	embryonic stem cell
49	chr10:97307600-97308200	Enhancers	iPS-20b Cell Line	embryonic stem cell
50	chr10:97307600-97308400	Enhancers	HUES48 Cell Line	embryonic stem cell

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