Variant report

Variant	rs4934434
Chromosome Location	chr10:90747169-90747170
allele	A/C
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	PAX5	chr10:90747043-90747531	GM12878	blood:	n/a	n/a
2	CTCF	chr10:90747100-90747250	SAEC	small airway:	n/a	n/a
3	RUNX3	chr10:90746210-90747652	GM12878	blood:	n/a	n/a
4	RUNX3	chr10:90746733-90747597	GM12878	blood:	n/a	n/a
5	CTCF	chr10:90747160-90747310	HRPEpiC	eye:	n/a	n/a
6	CTCF	chr10:90747100-90747250	GM12873	blood:	n/a	n/a
7	CTCF	chr10:90747160-90747310	HMEC	breast:	n/a	n/a
8	RAD21	chr10:90745871-90747254	SK-N-SH	brain:	n/a	chr10:90746901-90746910 chr10:90746895-90746914
9	CTCF	chr10:90747120-90747270	SK-N-SH_RA	brain:	n/a	n/a
10	CTCF	chr10:90747120-90747270	AG04449	skin:	n/a	n/a
11	SMC3	chr10:90746504-90747572	GM12878	blood:	n/a	chr10:90746899-90746913
12	SPI1	chr10:90747088-90747412	GM12891	blood:	n/a	n/a
13	CTCF	chr10:90747120-90747270	GM12867	blood:	n/a	n/a
14	RAD21	chr10:90746604-90747233	HCT-116	colon:	n/a	chr10:90746901-90746910 chr10:90746895-90746914
15	WRNIP1	chr10:90747126-90747471	GM12878	blood:	n/a	n/a
16	CTCF	chr10:90747120-90747270	SAEC	small airway:	n/a	n/a
17	PAX5	chr10:90747094-90747352	GM12878	blood:	n/a	n/a
18	MTA3	chr10:90746877-90747637	GM12878	blood:	n/a	n/a
19	MEF2A	chr10:90746650-90747346	GM12878	blood:	n/a	chr10:90746857-90746873 chr10:90746856-90746872 chr10:90746722-90746730 chr10:90746857-90746872
20	EBF1	chr10:90747045-90747574	GM12878	blood:	n/a	n/a
21	CTCF	chr10:90747120-90747270	GM12872	blood:	n/a	n/a
22	SMC3	chr10:90746473-90747400	SK-N-SH	brain:	n/a	chr10:90746899-90746913
23	CTCF	chr10:90746667-90747442	SK-N-SH	brain:	n/a	chr10:90746897-90746915 chr10:90746892-90746913 chr10:90746902-90746910 chr10:90746898-90746914
24	CTCF	chr10:90746564-90747550	A549	lung:	n/a	chr10:90746897-90746915 chr10:90746892-90746913 chr10:90746902-90746910 chr10:90746898-90746914
25	BATF	chr10:90747128-90747398	GM12878	blood:	n/a	n/a
26	PAX5	chr10:90747140-90747385	GM12878	blood:	n/a	n/a
27	BCL11A	chr10:90747081-90747448	GM12878	blood:	n/a	n/a
28	CTCF	chr10:90747140-90747290	HepG2	liver:	n/a	n/a
29	NFIC	chr10:90746733-90747487	GM12878	blood:	n/a	n/a
30	EP300	chr10:90747089-90747507	GM12878	blood:	n/a	n/a
31	ZNF143	chr10:90746716-90747355	GM12878	blood:	n/a	n/a
32	ATF2	chr10:90746533-90747189	GM12878	blood:	n/a	n/a
33	CTCF	chr10:90747140-90747290	HEK293	kidney:	n/a	n/a
34	CTCF	chr10:90747160-90747310	SK-N-SH_RA	brain:	n/a	n/a
35	NFIC	chr10:90746673-90747527	GM12878	blood:	n/a	n/a
36	CTCF	chr10:90747160-90747310	Hela-S3	cervix:	n/a	n/a
37	CTCF	chr10:90746538-90747225	HCT-116	colon:	n/a	chr10:90746897-90746915 chr10:90746892-90746913 chr10:90746902-90746910 chr10:90746898-90746914
38	CTCF	chr10:90747120-90747270	HA-sp	spinal cord:	n/a	n/a
39	CTCF	chr10:90746673-90747257	IMR90	lung:	n/a	chr10:90746897-90746915 chr10:90746892-90746913 chr10:90746902-90746910 chr10:90746898-90746914
40	EBF1	chr10:90747148-90747560	GM12878	blood:	n/a	n/a
41	BATF	chr10:90747051-90747444	GM12878	blood:	n/a	n/a
42	FOXM1	chr10:90746644-90747444	GM12878	blood:	n/a	n/a
43	SPI1	chr10:90747146-90747356	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:90694289..90695530-chr10:90746407..90747396,8	K562	blood:
2	chr10:90746474..90748113-chr10:90751872..90754372,2	K562	blood:
3	chr10:90694284..90695841-chr10:90746413..90747615,9	MCF-7	breast:
4	chr10:90694253..90695800-chr10:90745177..90747385,25	MCF-7	breast:
5	chr10:90732274..90733956-chr10:90744737..90747226,2	K562	blood:

Variant related genes	Relation type
FAS	TF binding region

Extended variants
information (count: 46 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10788624	0.81[ASN][1000 genomes]
rs10887876	0.81[CHB][hapmap];0.81[ASN][1000 genomes]
rs10887877	0.90[YRI][hapmap];0.88[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs11202918	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12359362	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12775501	0.99[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1324551	0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs1800682	0.95[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.88[LWK][hapmap];0.87[MKK][hapmap];0.99[ASN][1000 genomes]
rs1926195	0.95[CHB][hapmap];0.94[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs1926196	0.95[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.91[LWK][hapmap];0.88[MKK][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs1926197	0.90[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs1926199	0.90[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs1926200	0.90[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs1926201	0.90[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs1977389	0.95[JPT][hapmap]
rs2031610	0.91[CEU][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3740286	0.91[ASW][hapmap];0.88[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.98[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];0.87[MEX][hapmap];0.96[MKK][hapmap];0.83[TSI][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3752985	0.90[JPT][hapmap]
rs3752986	0.94[JPT][hapmap]
rs3758485	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3824729	0.88[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs3824730	0.88[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3903454	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4934433	0.85[CHB][hapmap];0.89[CHD][hapmap];0.86[JPT][hapmap];0.87[ASN][1000 genomes]
rs6586160	0.81[CHB][hapmap];0.86[JPT][hapmap];0.83[ASN][1000 genomes]
rs6586161	0.85[CHB][hapmap];0.84[CHD][hapmap];0.82[JPT][hapmap];0.87[ASN][1000 genomes]
rs6586163	0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs6586164	0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs6586165	0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs6586166	0.82[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs6586167	0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs7069061	0.84[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs7069841	0.88[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs7072828	0.88[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs7082101	0.88[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs7082720	0.88[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs7097467	0.85[CHB][hapmap]
rs7097572	0.95[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.91[LWK][hapmap];0.89[MKK][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs7897395	0.88[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs7910660	0.88[AFR][1000 genomes];0.95[ASN][1000 genomes]
rs7910825	0.86[CHB][hapmap];0.89[JPT][hapmap];0.87[LWK][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs7914490	0.81[AFR][1000 genomes];0.99[ASN][1000 genomes]
rs978522	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042848	chr10:90466032-91318474	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv540741	chr10:90466032-91318474	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
3	nsv831943	chr10:90664836-90865834	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs4934434	FAS	cis	parietal	SCAN
rs4934434	FAS	cis	Muscle Skeletal	GTEx
rs4934434	ACTA2	cis	multi-tissue	Pritchard
rs4934434	FAS	cis	Adipose Subcutaneous	GTEx
rs4934434	FAS	cis	Nerve Tibial	GTEx
rs4934434	ACTA2	Cis_1M	lymphoblastoid	RTeQTL
rs4934434	ACTA2	cis	lymphoblastoid	seeQTL

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:90735200-90749800	Weak transcription	Fetal Muscle Trunk	muscle
2	chr10:90735600-90748600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr10:90735600-90749200	Weak transcription	Fetal Muscle Leg	muscle
4	chr10:90735600-90749200	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr10:90738200-90747800	Enhancers	Colon Smooth Muscle	Colon
6	chr10:90739400-90749400	Weak transcription	NHEK	skin
7	chr10:90739600-90747200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr10:90739600-90748600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr10:90739600-90749000	Weak transcription	Adipose Nuclei	Adipose
10	chr10:90739600-90749200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr10:90739800-90749200	Weak transcription	HMEC	breast
12	chr10:90740200-90749200	Weak transcription	Left Ventricle	heart
13	chr10:90740800-90749200	Weak transcription	NH-A	brain
14	chr10:90741000-90747200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr10:90741000-90747400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr10:90741000-90749200	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr10:90741000-90749400	Weak transcription	Spleen	Spleen
18	chr10:90741600-90749200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr10:90741600-90749200	Weak transcription	Psoas Muscle	Psoas
20	chr10:90741600-90749400	Weak transcription	HSMM	muscle
21	chr10:90742800-90747200	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr10:90742800-90749800	Weak transcription	Brain Hippocampus Middle	brain
23	chr10:90743800-90749600	Weak transcription	Fetal Intestine Large	intestine
24	chr10:90744200-90749200	Weak transcription	Fetal Stomach	stomach
25	chr10:90744200-90749200	Weak transcription	Right Atrium	heart
26	chr10:90744200-90749600	Weak transcription	Fetal Intestine Small	intestine
27	chr10:90744200-90750000	Weak transcription	Small Intestine	intestine
28	chr10:90744600-90748400	Weak transcription	Osteobl	bone
29	chr10:90744600-90750000	Weak transcription	Stomach Mucosa	stomach
30	chr10:90745000-90748200	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr10:90745000-90749600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
32	chr10:90745200-90749200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr10:90745400-90747400	Enhancers	Rectal Smooth Muscle	rectum
34	chr10:90745600-90747200	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr10:90745600-90749200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr10:90745600-90749200	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr10:90745600-90750000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr10:90745800-90747200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr10:90746000-90747400	Genic enhancers	Fetal Lung	lung
40	chr10:90746200-90747200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr10:90746200-90748400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr10:90746400-90747600	Enhancers	Dnd41	blood
43	chr10:90746400-90749200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
44	chr10:90746400-90749800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
45	chr10:90746400-90749800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr10:90746600-90747200	Weak transcription	NHLF	lung
47	chr10:90746600-90747400	Enhancers	Monocytes-CD14+_RO01746	blood
48	chr10:90746600-90748600	Weak transcription	Stomach Smooth Muscle	stomach
49	chr10:90746600-90748600	Weak transcription	HepG2	liver
50	chr10:90746600-90748800	Weak transcription	NHDF-Ad	bronchial

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