Variant report

Variant	rs1326933
Chromosome Location	chr10:97283900-97283901
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	chr10:97280950..97286355-chr10:97287261..97290251,5	K562	blood:
2	chr10:97282540..97285200-chr10:97291326..97293754,3	K562	blood:

Extended variants
information (count: 56 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10736089	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs10786216	0.87[ASN][1000 genomes]
rs10786220	1.00[YRI][hapmap];0.82[EUR][1000 genomes]
rs10786223	0.81[TSI][hapmap];1.00[YRI][hapmap];0.86[EUR][1000 genomes]
rs10786224	0.83[EUR][1000 genomes]
rs1326931	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1326935	1.00[CHD][hapmap];0.83[GIH][hapmap]
rs1326936	1.00[CEU][hapmap];0.92[YRI][hapmap];0.83[EUR][1000 genomes]
rs1326937	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs1326938	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1326939	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs1359723	1.00[ASW][hapmap];0.89[CEU][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1359724	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs1409708	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs1409715	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1536441	0.80[CEU][hapmap];1.00[JPT][hapmap]
rs1536447	1.00[CEU][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];0.88[TSI][hapmap];0.92[EUR][1000 genomes]
rs1571132	0.89[CEU][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1609588	1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.83[MKK][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1819287	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs1887225	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1887227	0.80[EUR][1000 genomes]
rs1926817	0.87[TSI][hapmap];1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2031683	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs3927490	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4244315	0.87[GIH][hapmap];0.88[TSI][hapmap];0.82[EUR][1000 genomes]
rs4457684	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4466758	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs4498913	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs4592368	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs4617517	0.91[AFR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4638246	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs4918942	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.80[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4918945	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4918946	0.80[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6584002	0.85[EUR][1000 genomes]
rs6584005	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs6584006	1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[ASN][1000 genomes]
rs6584008	0.80[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7081926	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7092277	0.87[TSI][hapmap];0.88[EUR][1000 genomes]
rs7098378	0.88[EUR][1000 genomes]
rs7098531	0.88[EUR][1000 genomes]
rs7894499	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7896622	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7904778	0.87[ASN][1000 genomes]
rs7909386	0.87[TSI][hapmap];0.88[EUR][1000 genomes]
rs7910345	0.87[ASN][1000 genomes]
rs7912249	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs7915173	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7921696	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs7924227	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs943339	0.80[CEU][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs943340	0.80[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs943348	0.80[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1326933	TM9SF3	cis	parietal	SCAN
rs1326933	SORBS1	cis	cerebellum	SCAN

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:97271600-97284600	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr10:97273600-97284000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr10:97277000-97284200	Enhancers	Fetal Brain Female	brain
4	chr10:97278000-97284000	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr10:97278000-97294000	Weak transcription	Esophagus	oesophagus
6	chr10:97279000-97284000	Weak transcription	Psoas Muscle	Psoas
7	chr10:97279000-97284000	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr10:97279200-97285800	Weak transcription	Pancreas	Pancrea
9	chr10:97279200-97290400	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr10:97279200-97290400	Weak transcription	Fetal Muscle Trunk	muscle
11	chr10:97279200-97293200	Weak transcription	Fetal Lung	lung
12	chr10:97279400-97285800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr10:97279600-97284000	Weak transcription	Liver	Liver
14	chr10:97279600-97284800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr10:97279800-97284600	Weak transcription	Brain Substantia Nigra	brain
16	chr10:97279800-97288200	Weak transcription	HepG2	liver
17	chr10:97279800-97290600	Weak transcription	Fetal Muscle Leg	muscle
18	chr10:97280000-97284200	Weak transcription	Fetal Stomach	stomach
19	chr10:97280400-97289000	Enhancers	Rectal Smooth Muscle	rectum
20	chr10:97280600-97291000	Enhancers	Colon Smooth Muscle	Colon
21	chr10:97280800-97285000	Enhancers	Right Atrium	heart
22	chr10:97280800-97301400	Enhancers	Fetal Heart	heart
23	chr10:97281000-97285600	Weak transcription	Fetal Intestine Small	intestine
24	chr10:97281200-97284600	Weak transcription	Right Ventricle	heart
25	chr10:97281600-97284200	Weak transcription	Lung	lung
26	chr10:97281600-97285800	Weak transcription	Gastric	stomach
27	chr10:97281600-97289800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr10:97281600-97296400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr10:97281800-97295000	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr10:97282200-97285200	Enhancers	Brain Angular Gyrus	brain
31	chr10:97282200-97285400	Enhancers	Brain Cingulate Gyrus	brain
32	chr10:97282200-97304400	Weak transcription	Brain Germinal Matrix	brain
33	chr10:97282400-97288800	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr10:97282400-97292000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
35	chr10:97282400-97292000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
36	chr10:97282600-97284400	Enhancers	Stomach Smooth Muscle	stomach
37	chr10:97282600-97286600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
38	chr10:97282800-97285800	Weak transcription	Aorta	Aorta
39	chr10:97282800-97287400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr10:97282800-97288800	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr10:97283000-97292000	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr10:97283200-97284000	Weak transcription	Left Ventricle	heart
43	chr10:97283200-97284200	Weak transcription	HSMMtube	muscle
44	chr10:97283200-97296400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr10:97283400-97284200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr10:97283400-97286000	Weak transcription	Fetal Brain Male	brain
47	chr10:97283400-97287000	Enhancers	Skeletal Muscle Male	skeletal muscle
48	chr10:97283600-97284400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr10:97283600-97284800	Weak transcription	Brain Hippocampus Middle	brain
50	chr10:97283600-97284800	Weak transcription	Brain Inferior Temporal Lobe	brain

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