Variant report

Variant	rs943339
Chromosome Location	chr10:97291229-97291230
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:97290965..97293136-chr10:97317143..97318856,2	K562	blood:
2	chr10:97277519..97280426-chr10:97289369..97291949,2	K562	blood:
3	chr10:97289605..97292487-chr10:97295547..97298455,3	K562	blood:
4	chr10:97290800..97293543-chr10:97293667..97298455,5	K562	blood:
5	chr10:97288240..97291346-chr10:97319603..97322550,3	K562	blood:
6	chr10:97285880..97288158-chr10:97290360..97291993,2	K562	blood:
7	chr10:97262883..97265174-chr10:97289179..97291481,2	K562	blood:

Variant related genes	Relation type
ENSG00000095637	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10736089	1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs10786216	0.93[ASN][1000 genomes]
rs10786220	1.00[YRI][hapmap]
rs10786223	1.00[YRI][hapmap]
rs1326931	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1326933	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]
rs1326935	1.00[CHD][hapmap];0.87[GIH][hapmap]
rs1326936	0.80[CEU][hapmap];0.92[YRI][hapmap]
rs1326937	1.00[JPT][hapmap];1.00[YRI][hapmap]
rs1326938	0.80[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1326939	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1359723	1.00[CHD][hapmap];1.00[JPT][hapmap];0.89[LWK][hapmap];1.00[YRI][hapmap];0.86[AFR][1000 genomes]
rs1359724	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1409708	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs1409715	0.80[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1536441	1.00[CEU][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1536447	0.80[CEU][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.80[ASN][1000 genomes]
rs1571132	0.90[CEU][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs1609588	1.00[ASW][hapmap];0.91[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1819287	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1926817	1.00[YRI][hapmap]
rs2031683	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3927490	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4244315	0.91[GIH][hapmap]
rs4457684	0.80[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4466758	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs4498913	1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs4592368	1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs4617517	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4638246	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs4918942	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4918945	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4918946	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6584005	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs6584006	1.00[CHD][hapmap];0.92[GIH][hapmap];0.93[ASN][1000 genomes]
rs6584008	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7081926	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7896622	0.95[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs7904778	0.93[ASN][1000 genomes]
rs7910345	0.93[ASN][1000 genomes]
rs7912249	1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs7915173	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7921696	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs7924227	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs943340	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs943348	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[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
rs943339	SORBS1	cis	cerebellum	SCAN
rs943339	DNTT	cis	cerebellum	SCAN

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:97278000-97294000	Weak transcription	Esophagus	oesophagus
2	chr10:97279200-97293200	Weak transcription	Fetal Lung	lung
3	chr10:97280800-97301400	Enhancers	Fetal Heart	heart
4	chr10:97281600-97296400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr10:97281800-97295000	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr10:97282200-97304400	Weak transcription	Brain Germinal Matrix	brain
7	chr10:97282400-97292000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr10:97282400-97292000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr10:97283000-97292000	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr10:97283200-97296400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr10:97285200-97292400	Enhancers	Fetal Intestine Large	intestine
12	chr10:97286200-97294800	Weak transcription	Small Intestine	intestine
13	chr10:97286200-97296000	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr10:97286800-97293200	Weak transcription	Liver	Liver
15	chr10:97287800-97292800	Enhancers	Brain Cingulate Gyrus	brain
16	chr10:97288600-97291800	Weak transcription	Placenta	Placenta
17	chr10:97288800-97292400	Enhancers	Brain Anterior Caudate	brain
18	chr10:97288800-97292800	Enhancers	Right Atrium	heart
19	chr10:97288800-97293600	Enhancers	Duodenum Smooth Muscle	Duodenum
20	chr10:97288800-97294400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr10:97289000-97291400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr10:97289000-97291400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr10:97289000-97292400	Enhancers	Fetal Stomach	stomach
24	chr10:97289000-97294800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
25	chr10:97289000-97295000	Enhancers	Right Ventricle	heart
26	chr10:97289200-97291600	Enhancers	Primary hematopoietic stem cells	blood
27	chr10:97289200-97292200	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr10:97289200-97292400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr10:97289200-97292600	Enhancers	Lung	lung
30	chr10:97289200-97299200	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr10:97289200-97309000	Enhancers	Left Ventricle	heart
32	chr10:97289400-97291800	Weak transcription	HUVEC	blood vessel
33	chr10:97289400-97292200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr10:97289400-97296200	Weak transcription	HSMMtube	muscle
35	chr10:97289400-97303800	Weak transcription	HSMM	muscle
36	chr10:97289800-97291800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr10:97289800-97292600	Genic enhancers	Fetal Intestine Small	intestine
38	chr10:97289800-97293800	Enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr10:97290000-97291600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr10:97290000-97292000	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr10:97290000-97292000	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr10:97290000-97292800	Enhancers	Brain Substantia Nigra	brain
43	chr10:97290000-97298600	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr10:97290000-97301400	Enhancers	Rectal Smooth Muscle	rectum
45	chr10:97290200-97292000	Enhancers	Adipose Nuclei	Adipose
46	chr10:97290200-97292200	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr10:97290400-97291600	Enhancers	Fetal Muscle Trunk	muscle
48	chr10:97290400-97291800	Weak transcription	Stomach Mucosa	stomach
49	chr10:97290400-97292200	Flanking Active TSS	Stomach Smooth Muscle	stomach
50	chr10:97290400-97293000	Enhancers	Spleen	Spleen

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