Variant report

Variant	rs1571132
Chromosome Location	chr10:97257034-97257035
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EGR1	chr10:97256817-97257045	K562	blood:	n/a	chr10:97257029-97257042

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:97255064..97257617-chr10:97271622..97273423,2	K562	blood:

Variant related genes	Relation type
SORBS1	TF binding region

Extended variants
information (count: 50 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10736089	1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs10786216	0.93[ASN][1000 genomes]
rs1326931	0.90[CEU][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1326933	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]
rs1326935	1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap]
rs1326936	0.89[CEU][hapmap];1.00[CHB][hapmap];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1326937	0.88[CEU][hapmap];1.00[JPT][hapmap]
rs1326938	0.89[CEU][hapmap];1.00[JPT][hapmap];0.92[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];0.88[TSI][hapmap];0.86[EUR][1000 genomes]
rs1359724	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1409708	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs1409715	0.89[CEU][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1536441	0.90[CEU][hapmap];1.00[JPT][hapmap]
rs1536447	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[LWK][hapmap];0.82[MEX][hapmap];0.80[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1609588	0.81[CEU][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1819287	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs1926817	0.82[TSI][hapmap];0.80[EUR][1000 genomes]
rs2031683	0.90[CEU][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs3927490	0.90[CEU][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs4244315	1.00[GIH][hapmap];0.83[MKK][hapmap];0.94[TSI][hapmap];0.91[EUR][1000 genomes]
rs4457684	0.89[CEU][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4466758	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs4498913	1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs4592368	1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs4617517	0.87[ASN][1000 genomes]
rs4638246	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs4918942	0.90[CEU][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs4918945	0.88[CEU][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs4918946	0.90[CEU][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs579342	0.87[GIH][hapmap]
rs6584002	0.82[CHB][hapmap];0.94[EUR][1000 genomes]
rs6584005	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs6584006	1.00[CHD][hapmap];0.83[GIH][hapmap];0.93[ASN][1000 genomes]
rs6584008	0.90[CEU][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs7081926	0.90[CEU][hapmap];0.93[ASN][1000 genomes]
rs7092277	0.82[TSI][hapmap]
rs7894499	0.80[EUR][1000 genomes]
rs7896622	0.90[EUR][1000 genomes]
rs7904778	0.93[ASN][1000 genomes]
rs7909386	0.82[TSI][hapmap]
rs7910345	0.93[ASN][1000 genomes]
rs7912249	1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs7915173	1.00[ASN][1000 genomes]
rs7921696	1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs7924227	0.89[CEU][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs943339	0.90[CEU][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs943340	0.90[CEU][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs943346	0.82[CHB][hapmap]
rs943348	0.90[CEU][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs1571132	SORBS1	cis	cerebellum	SCAN
rs1571132	CRTAC1	cis	cerebellum	SCAN
rs1571132	EXOSC1	cis	parietal	SCAN

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:97239600-97260800	Weak transcription	Brain Germinal Matrix	brain
2	chr10:97241000-97260600	Weak transcription	Fetal Muscle Trunk	muscle
3	chr10:97241600-97260400	Weak transcription	Fetal Brain Male	brain
4	chr10:97241600-97260600	Weak transcription	Fetal Stomach	stomach
5	chr10:97245400-97259200	Weak transcription	Brain Substantia Nigra	brain
6	chr10:97245400-97264600	Weak transcription	Ovary	ovary
7	chr10:97245800-97259400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr10:97247400-97259800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr10:97249400-97261200	Weak transcription	Fetal Brain Female	brain
10	chr10:97249800-97274000	Weak transcription	Spleen	Spleen
11	chr10:97250000-97258800	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr10:97251200-97268200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr10:97252400-97262000	Weak transcription	Fetal Lung	lung
14	chr10:97252600-97259200	Weak transcription	Liver	Liver
15	chr10:97253400-97261200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr10:97253800-97257800	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr10:97253800-97258400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr10:97253800-97258400	Weak transcription	HUVEC	blood vessel
19	chr10:97253800-97258800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr10:97254000-97265000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr10:97254200-97257600	Weak transcription	Fetal Intestine Large	intestine
22	chr10:97254200-97259200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr10:97254200-97261000	Weak transcription	Stomach Mucosa	stomach
24	chr10:97254400-97257800	Weak transcription	Duodenum Smooth Muscle	Duodenum
25	chr10:97254400-97258000	Weak transcription	HepG2	liver
26	chr10:97254400-97259200	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr10:97254400-97259400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
28	chr10:97254400-97259400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr10:97254400-97259400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr10:97254400-97259800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr10:97254400-97259800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr10:97254400-97259800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr10:97254400-97260000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr10:97254400-97260600	Weak transcription	Fetal Intestine Small	intestine
35	chr10:97254400-97261800	Weak transcription	Duodenum Mucosa	Duodenum
36	chr10:97254600-97257200	Weak transcription	Gastric	stomach
37	chr10:97254600-97257200	Weak transcription	Psoas Muscle	Psoas
38	chr10:97254600-97258800	Weak transcription	Aorta	Aorta
39	chr10:97254600-97259000	Weak transcription	H1 Cell Line	embryonic stem cell
40	chr10:97254600-97259400	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr10:97254600-97259400	Weak transcription	Brain Angular Gyrus	brain
42	chr10:97255200-97259400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr10:97255600-97259800	Weak transcription	Fetal Heart	heart
44	chr10:97256000-97257400	Enhancers	Fetal Muscle Leg	muscle
45	chr10:97256000-97257600	Enhancers	HSMMtube	muscle
46	chr10:97256000-97258400	Enhancers	K562	blood
47	chr10:97256400-97257200	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr10:97256400-97257200	Enhancers	Brain Inferior Temporal Lobe	brain
49	chr10:97256400-97257600	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr10:97256400-97257600	Enhancers	Skeletal Muscle Female	skeletal muscle

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