Variant report

Variant	rs12572608
Chromosome Location	chr10:91406927-91406928
allele	C/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	MYC	chr10:91403502-91406969	NB4	blood:	n/a	chr10:91405450-91405460
2	ZNF384	chr10:91406615-91406958	K562	blood:	n/a	n/a
3	ZNF384	chr10:91406640-91407033	GM12878	blood:	n/a	n/a
4	POLR2A	chr10:91403397-91406930	Raji	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:91406004..91407517-chr10:91408220..91410152,2	K562	blood:
2	chr10:91406096..91408385-chr10:91460120..91462527,2	K562	blood:
3	chr10:91395971..91398533-chr10:91405647..91407667,2	K562	blood:
4	chr10:91402715..91410625-chr10:91458897..91464646,18	MCF-7	breast:

Variant related genes	Relation type
PANK1	TF binding region
ENSG00000249962	TF binding region
ENSG00000138182	Chromatin interaction
ENSG00000235100	Chromatin interaction

Extended variants
information (count: 64 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10509581	0.89[GIH][hapmap];0.82[MEX][hapmap];0.89[MKK][hapmap];0.81[TSI][hapmap]
rs10881613	0.91[CEU][hapmap]
rs10881629	0.83[JPT][hapmap]
rs11185866	0.82[JPT][hapmap]
rs1129777	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11330	0.86[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.91[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12250365	0.83[JPT][hapmap]
rs12570750	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12570813	0.90[CHB][hapmap];0.83[JPT][hapmap];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12571268	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12571918	1.00[CEU][hapmap];0.87[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12572012	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12572869	1.00[CEU][hapmap];0.95[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];0.99[ASN][1000 genomes]
rs12572928	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12763346	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12764076	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12771413	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.91[JPT][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12775091	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12775783	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12783582	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12783845	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1359624	0.91[CEU][hapmap]
rs1409357	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1590566	0.88[ASN][1000 genomes]
rs17125834	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17126269	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17127001	0.86[ASW][hapmap];1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17127588	0.87[AMR][1000 genomes]
rs17127596	0.89[AMR][1000 genomes]
rs1926139	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1969902	0.88[ASN][1000 genomes]
rs2094214	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2418929	0.86[ASW][hapmap];1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34379399	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs34408087	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34486602	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34591435	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34663515	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34692063	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34784021	0.88[ASN][1000 genomes]
rs34928397	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34993776	0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs36019294	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3740033	0.91[CEU][hapmap]
rs3740034	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3740035	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3758388	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3824607	0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3925446	0.97[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3962370	0.89[ASN][1000 genomes]
rs4934494	0.91[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55823491	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56189305	0.94[ASN][1000 genomes]
rs58163515	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6586213	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs67111731	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67827533	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7081788	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7098233	0.91[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.82[TSI][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72818784	0.88[ASN][1000 genomes]
rs745215	0.99[ASN][1000 genomes]
rs768805	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs927907	0.91[CEU][hapmap]
rs9325444	0.82[JPT][hapmap]

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs12572608	FLJ37201	cis	parietal	SCAN
rs12572608	MYOF	cis	parietal	SCAN
rs12572608	HECTD2	cis	parietal	SCAN

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:91405600-91407000	Enhancers	Primary B cells from peripheral blood	blood
2	chr10:91405600-91407200	Enhancers	Sigmoid Colon	Sigmoid Colon
3	chr10:91405600-91408000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr10:91405800-91407200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr10:91405800-91407200	Enhancers	Fetal Muscle Leg	muscle
6	chr10:91405800-91408200	Enhancers	Fetal Stomach	stomach
7	chr10:91405800-91408400	Enhancers	Fetal Lung	lung
8	chr10:91405800-91409800	Weak transcription	Pancreas	Pancrea
9	chr10:91405800-91411000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr10:91406000-91407000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr10:91406000-91407000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr10:91406000-91407000	Enhancers	GM12878-XiMat	blood
13	chr10:91406000-91407200	Weak transcription	NHLF	lung
14	chr10:91406000-91407800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr10:91406000-91408200	Enhancers	Fetal Intestine Large	intestine
16	chr10:91406000-91408200	Enhancers	Fetal Intestine Small	intestine
17	chr10:91406000-91409000	Enhancers	Skeletal Muscle Male	skeletal muscle
18	chr10:91406000-91409200	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr10:91406000-91411400	Weak transcription	Monocytes-CD14+_RO01746	blood
20	chr10:91406200-91407200	Enhancers	Fetal Heart	heart
21	chr10:91406200-91407200	Enhancers	Rectal Mucosa Donor 29	rectum
22	chr10:91406200-91407200	Enhancers	K562	blood
23	chr10:91406200-91407400	Weak transcription	Fetal Muscle Trunk	muscle
24	chr10:91406400-91407200	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr10:91406400-91407200	Enhancers	Rectal Mucosa Donor 31	rectum
26	chr10:91406400-91407800	Weak transcription	Right Atrium	heart
27	chr10:91406400-91411000	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr10:91406400-91414200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr10:91406600-91407000	Weak transcription	Psoas Muscle	Psoas
30	chr10:91406600-91407200	Enhancers	NHDF-Ad	bronchial
31	chr10:91406600-91407600	Enhancers	Duodenum Mucosa	Duodenum
32	chr10:91406600-91407600	Weak transcription	Fetal Kidney	kidney
33	chr10:91406600-91407800	Weak transcription	Liver	Liver
34	chr10:91406600-91413800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr10:91406600-91415800	Weak transcription	Colonic Mucosa	Colon
36	chr10:91406800-91407200	Enhancers	Fetal Brain Female	brain
37	chr10:91406800-91411000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr10:91406800-91411200	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr10:91406800-91411200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
40	chr10:91406800-91411400	Weak transcription	Primary B cells from cord blood	blood

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