Variant report

Variant	rs943544
Chromosome Location	chr10:97148731-97148732
allele	G/T
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	NFIC	chr10:97148237-97148746	HepG2	liver:	n/a	n/a
2	TEAD4	chr10:97148192-97148760	HepG2	liver:	n/a	n/a
3	MYBL2	chr10:97148288-97148812	HepG2	liver:	n/a	n/a
4	FOXA1	chr10:97148261-97148793	HepG2	liver:	n/a	chr10:97148479-97148494 chr10:97148523-97148538
5	FOXA2	chr10:97147837-97148796	A549	lung:	n/a	n/a
6	FOXA1	chr10:97148248-97148837	HepG2	liver:	n/a	chr10:97148479-97148494 chr10:97148523-97148538
7	CEBPB	chr10:97148333-97148735	HepG2	liver:	n/a	chr10:97148551-97148562
8	CEBPB	chr10:97148314-97148745	HepG2	liver:	n/a	chr10:97148551-97148562
9	FOXA2	chr10:97147993-97148907	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:97143973..97145849-chr10:97148618..97150479,2	MCF-7	breast:
2	chr10:97146581..97148830-chr10:97151387..97153337,2	K562	blood:
3	chr10:97147507..97149685-chr10:97150420..97152173,2	MCF-7	breast:

Variant related genes	Relation type
SORBS1	TF binding region
ENSG00000095637	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs1001875	1.00[ASW][hapmap];0.96[CEU][hapmap];0.94[CHB][hapmap];0.91[CHD][hapmap];0.91[GIH][hapmap];0.87[JPT][hapmap];0.96[LWK][hapmap];1.00[MKK][hapmap];0.84[TSI][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10882583	0.89[CHB][hapmap];0.87[JPT][hapmap]
rs11188305	0.88[CHB][hapmap]
rs1887818	0.84[CEU][hapmap];0.89[CHB][hapmap];0.81[JPT][hapmap]
rs2025851	0.87[ASW][hapmap];0.88[CEU][hapmap];0.89[CHB][hapmap];0.87[JPT][hapmap];0.83[YRI][hapmap];0.82[ASN][1000 genomes]
rs2274490	0.82[CEU][hapmap]
rs2274491	0.87[YRI][hapmap]
rs2861101	0.89[CHB][hapmap]
rs3896409	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4244314	0.82[CEU][hapmap];0.89[CHB][hapmap];0.81[JPT][hapmap]
rs4542335	0.88[CEU][hapmap]
rs4918911	0.83[CHB][hapmap]
rs4918921	0.82[CEU][hapmap]
rs6583995	0.88[CEU][hapmap];0.83[CHB][hapmap];0.87[GIH][hapmap];0.81[JPT][hapmap];0.80[MEX][hapmap];0.90[TSI][hapmap]
rs6583997	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6583998	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];0.90[TSI][hapmap];0.87[YRI][hapmap];0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7074224	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.81[MKK][hapmap];0.90[ASN][1000 genomes]
rs7080545	1.00[ASW][hapmap];1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[GIH][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7090619	0.81[CEU][hapmap];0.91[GIH][hapmap]
rs71483997	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7904517	0.84[CHB][hapmap];0.81[JPT][hapmap]
rs7914896	0.84[CHB][hapmap];0.80[JPT][hapmap]
rs955759	0.94[CHB][hapmap];0.87[JPT][hapmap]

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs943544	PPP1R3C	cis	parietal	SCAN
rs943544	PI4K2A	cis	cerebellum	SCAN
rs943544	ANKRD2	cis	cerebellum	SCAN

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:97107200-97151800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr10:97122000-97149400	Weak transcription	Spleen	Spleen
3	chr10:97130200-97156600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr10:97135600-97155600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr10:97137800-97156000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr10:97140600-97158600	Weak transcription	HSMM	muscle
7	chr10:97140800-97152400	Weak transcription	Colonic Mucosa	Colon
8	chr10:97142200-97151800	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr10:97142200-97152400	Weak transcription	Fetal Muscle Trunk	muscle
10	chr10:97142400-97152400	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr10:97142600-97155600	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr10:97143000-97148800	Weak transcription	Brain Germinal Matrix	brain
13	chr10:97143000-97151400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr10:97143600-97151000	Weak transcription	Fetal Lung	lung
15	chr10:97143600-97151400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr10:97144000-97151600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr10:97144000-97152400	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr10:97144000-97152400	Weak transcription	Psoas Muscle	Psoas
19	chr10:97144000-97155400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
20	chr10:97144200-97149400	Weak transcription	HSMMtube	muscle
21	chr10:97144200-97151600	Weak transcription	HUES48 Cell Line	embryonic stem cell
22	chr10:97144400-97149400	Weak transcription	Aorta	Aorta
23	chr10:97144400-97152400	Weak transcription	Ovary	ovary
24	chr10:97144400-97154000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr10:97144400-97155600	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr10:97144600-97149600	Weak transcription	Lung	lung
27	chr10:97145000-97150200	Enhancers	Stomach Mucosa	stomach
28	chr10:97145000-97151200	Weak transcription	Fetal Brain Female	brain
29	chr10:97145000-97153200	Weak transcription	Fetal Muscle Leg	muscle
30	chr10:97145800-97150200	Enhancers	Liver	Liver
31	chr10:97146200-97149400	Weak transcription	Fetal Intestine Small	intestine
32	chr10:97146400-97152400	Enhancers	GM12878-XiMat	blood
33	chr10:97146800-97168400	Weak transcription	Small Intestine	intestine
34	chr10:97147000-97150000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr10:97147000-97150400	Enhancers	Brain Hippocampus Middle	brain
36	chr10:97147000-97150800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr10:97147000-97152600	Enhancers	Cortex derived primary cultured neurospheres	brain
38	chr10:97147200-97150200	Enhancers	Brain Angular Gyrus	brain
39	chr10:97147200-97150200	Enhancers	Brain Inferior Temporal Lobe	brain
40	chr10:97147200-97152000	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr10:97147200-97152400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
42	chr10:97147200-97153800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr10:97147200-97158800	Genic enhancers	Skeletal Muscle Male	skeletal muscle
44	chr10:97147400-97148800	Enhancers	Gastric	stomach
45	chr10:97147400-97149200	Enhancers	Rectal Mucosa Donor 31	rectum
46	chr10:97147400-97150200	Enhancers	Duodenum Smooth Muscle	Duodenum
47	chr10:97147400-97150800	Enhancers	Right Atrium	heart
48	chr10:97147400-97152600	Enhancers	Brain Anterior Caudate	brain
49	chr10:97147400-97154000	Genic enhancers	Stomach Smooth Muscle	stomach
50	chr10:97147400-97154400	Genic enhancers	Left Ventricle	heart

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