Variant report

Variant	rs1051162
Chromosome Location	chr7:39606107-39606108
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:382)
CpG islands
(count:61)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:382 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	PML	chr7:39605480-39606525	GM12878	blood:	n/a	n/a
2	TAF1	chr7:39605639-39606384	PFSK-1	brain:	n/a	n/a
3	POLR2A	chr7:39605607-39606472	HCT-116	colon:	n/a	n/a
4	TEAD4	chr7:39605631-39606210	K562	blood:	n/a	n/a
5	POLR2A	chr7:39605582-39606316	HUVEC	blood vessel:	n/a	n/a
6	MAZ	chr7:39605389-39606287	GM12878	blood:	n/a	n/a
7	NFIC	chr7:39605727-39606295	HepG2	liver:	n/a	n/a
8	GABPA	chr7:39605756-39606259	H1-hESC	embryonic stem cell:	n/a	n/a
9	ELF1	chr7:39605822-39606124	HepG2	liver:	n/a	chr7:39605979-39605992 chr7:39605901-39605910
10	TCF12	chr7:39605728-39606183	GM12878	blood:	n/a	n/a
11	BACH1	chr7:39605695-39606256	H1-hESC	embryonic stem cell:	n/a	n/a
12	MAZ	chr7:39605773-39606215	HepG2	liver:	n/a	n/a
13	MXI1	chr7:39605450-39606464	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr7:39605496-39606372	U87	brain:	n/a	n/a
15	TAF1	chr7:39605570-39606517	A549	lung:	n/a	n/a
16	FOXP2	chr7:39605721-39606247	PFSK-1	brain:	n/a	n/a
17	POLR2A	chr7:39605634-39606251	A549	lung:	n/a	n/a
18	POU2F2	chr7:39605605-39606339	GM12878	blood:	n/a	n/a
19	POLR2A	chr7:39605699-39606190	A549	lung:	n/a	n/a
20	CEBPD	chr7:39605701-39606201	K562	blood:	n/a	n/a
21	MYC	chr7:39605682-39606256	MCF-7	breast:	n/a	n/a
22	GABPA	chr7:39605475-39606452	HL-60	blood:	n/a	n/a
23	POLR2A	chr7:39605543-39606385	Gliobla	brain:	n/a	n/a
24	SIN3AK20	chr7:39605675-39606241	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr7:39605312-39606334	NB4	blood:	n/a	n/a
26	SIX5	chr7:39605798-39606177	GM12878	blood:	n/a	n/a
27	POLR2A	chr7:39605606-39606273	SK-N-SH	brain:	n/a	n/a
28	NFIC	chr7:39605464-39606362	GM12878	blood:	n/a	n/a
29	RFX5	chr7:39605827-39606172	Hela-S3	cervix:	n/a	n/a
30	ELK1	chr7:39605778-39606154	K562	blood:	n/a	n/a
31	ATF2	chr7:39605695-39606255	H1-hESC	embryonic stem cell:	n/a	n/a
32	GTF2F1	chr7:39605470-39606174	K562	blood:	n/a	n/a
33	MAX	chr7:39605363-39606686	NB4	blood:	n/a	n/a
34	YY1	chr7:39605621-39606201	H1-hESC	embryonic stem cell:	n/a	chr7:39605878-39605887 chr7:39605872-39605886 chr7:39605878-39605892
35	MXI1	chr7:39605624-39606496	Hela-S3	cervix:	n/a	n/a
36	ZNF143	chr7:39605615-39606155	K562	blood:	n/a	n/a
37	EBF1	chr7:39605645-39606417	GM12878	blood:	n/a	chr7:39606255-39606266 chr7:39606254-39606267 chr7:39606256-39606265 chr7:39606256-39606266
38	SIN3AK20	chr7:39605847-39606204	SK-N-SH	brain:	n/a	n/a
39	IRF4	chr7:39605672-39606187	GM12878	blood:	n/a	n/a
40	PML	chr7:39605304-39606460	K562	blood:	n/a	n/a
41	POLR2A	chr7:39605622-39606410	GM12878	blood:	n/a	n/a
42	POLR2A	chr7:39605585-39606496	K562	blood:	n/a	n/a
43	TBP	chr7:39605589-39606216	GM12878	blood:	n/a	n/a
44	TBP	chr7:39605610-39606418	H1-hESC	embryonic stem cell:	n/a	n/a
45	EP300	chr7:39605711-39606318	A549	lung:	n/a	chr7:39605877-39605886
46	IRF1	chr7:39605505-39606689	K562	blood:	n/a	chr7:39606649-39606660 chr7:39606649-39606663 chr7:39606648-39606662 chr7:39606651-39606665 chr7:39606647-39606661
47	REST	chr7:39605629-39606226	SK-N-SH	brain:	n/a	chr7:39606167-39606177
48	GABPA	chr7:39605675-39606272	HepG2	liver:	n/a	n/a
49	FOXM1	chr7:39605676-39606292	GM12878	blood:	n/a	n/a
50	YY1	chr7:39605704-39606221	GM12891	blood:	n/a	chr7:39605878-39605887 chr7:39605872-39605886 chr7:39605878-39605892

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr7:39606071-39606121	NB4	blood:	n/a
2	chr7:39606071-39606121	HEK293	kidney:	embryo
3	chr7:39606071-39606121	HRE	kidney:	n/a
4	chr7:39606071-39606121	SK-N-SH	brain:	n/a
5	chr7:39606071-39606121	GM12891	blood:	n/a
6	chr7:39606071-39606121	PFSK-1	brain:	n/a
7	chr7:39606071-39606121	MCF-7	breast:	n/a
8	chr7:39606071-39606121	BE2_C	brain:	n/a
9	chr7:39606071-39606121	HCT-116	colon:	n/a
10	chr7:39606071-39606121	HNPCEpiC	eye:	n/a
11	chr7:39606071-39606121	HRCEpiC	kidney:	n/a
12	chr7:39606071-39606121	U87	brain:	n/a
13	chr7:39606071-39606121	AoSMC	blood vessel:	n/a
14	chr7:39606071-39606121	HUVEC	blood vessel:	n/a
15	chr7:39606071-39606121	AG04449	skin:	fetal
16	chr7:39606071-39606121	GM12892	blood:	n/a
17	chr7:39606071-39606121	SAEC	small airway:	n/a
18	chr7:39606071-39606121	HCPEpiC	choroid plexus:	n/a
19	chr7:39606071-39606121	H1-hESC	embryonic stem cell:	embryo
20	chr7:39606071-39606121	HIPEpiC	eye:	n/a
21	chr7:39606071-39606121	AG09309	skin:	n/a
22	chr7:39606071-39606121	AG10803	skin:	n/a
23	chr7:39606071-39606121	SK-N-SH_RA	brain:	n/a
24	chr7:39606071-39606121	ovcar-3	ovarian:	n/a
25	chr7:39606071-39606121	HepG2	liver:	n/a
26	chr7:39606071-39606121	PrEC	prostate:	n/a
27	chr7:39606071-39606121	HPAEpiC	pulmonary alveolar:	n/a
28	chr7:39606071-39606121	BJ	skin:	n/a
29	chr7:39606071-39606121	GM06990	blood:	n/a
30	chr7:39606071-39606121	PANC-1	pancreas:	n/a
31	chr7:39606071-39606121	AG04450	lung:	fetal
32	chr7:39606071-39606121	Hepatocyte	liver:	n/a
33	chr7:39606071-39606121	RPTEC	kidney:	n/a
34	chr7:39606071-39606121	SKMC	muscle:	n/a
35	chr7:39606071-39606121	NHBE	bronchial:	n/a
36	chr7:39606071-39606121	A549	lung:	n/a
37	chr7:39606071-39606121	MCF10A-Er-Src	breast:	n/a
38	chr7:39606071-39606121	NH-A	brain:	n/a
39	chr7:39606071-39606121	ProgFib	skin:	n/a
40	chr7:39606071-39606121	NHDF-neo	bronchial:	n/a
41	chr7:39606071-39606121	SK-N-MC	brain:	n/a
42	chr7:39606071-39606121	HMEC	breast:	n/a
43	chr7:39606071-39606121	HCM	heart:	n/a
44	chr7:39606071-39606121	GM19239	blood:	n/a
45	chr7:39606071-39606121	Jurkat	blood:	n/a
46	chr7:39606071-39606121	T-47D	breast:	n/a
47	chr7:39606071-39606121	HCF	heart:	n/a
48	chr7:39606071-39606121	NT2-D1	testis:	n/a
49	chr7:39606071-39606121	HL-60	blood:	n/a
50	chr7:39606071-39606121	Caco-2	colon:	n/a

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:39604710..39608797-chr7:39663149..39665225,4	K562	blood:
2	chr7:39605618..39607861-chr7:39772706..39774759,2	K562	blood:
3	chr12:120729013..120729820-chr7:39605948..39606462,2	Hela-S3	cervix:
4	chr7:39605012..39607338-chr7:39986740..39989686,2	K562	blood:
5	chr7:39605969..39608430-chr7:39663149..39665540,3	K562	blood:
6	chr7:39606078..39608053-chr7:39609216..39613025,4	MCF-7	breast:

No data

Variant related genes	Relation type
YAE1D1	TF binding region
ENSG00000227172	TF binding region
YAE1D1	CpG island
ENSG00000227172	CpG island
ENSG00000259826	Chromatin interaction
ENSG00000202538	Chromatin interaction
ENSG00000236015	Chromatin interaction
ENSG00000188185	Chromatin interaction
ENSG00000065883	Chromatin interaction
ENSG00000006451	Chromatin interaction
ENSG00000241127	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10232859	1.00[ASW][hapmap];0.91[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.93[GIH][hapmap];0.92[JPT][hapmap];1.00[LWK][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10262131	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]
rs10486799	1.00[CHB][hapmap];0.90[CHD][hapmap];0.84[JPT][hapmap];0.87[ASN][1000 genomes]
rs11981810	0.97[ASN][1000 genomes]
rs17171592	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[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];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17171599	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17171601	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17713701	0.94[ASN][1000 genomes]
rs17714026	0.90[ASN][1000 genomes]
rs17714061	1.00[CHB][hapmap];0.95[CHD][hapmap];0.92[JPT][hapmap];0.90[ASN][1000 genomes]
rs17770744	0.90[ASN][1000 genomes]
rs2288744	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[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];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2876861	0.90[ASN][1000 genomes]
rs2971	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][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]
rs35586222	0.99[ASN][1000 genomes]
rs59818431	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60942815	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6947660	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[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];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6973403	0.90[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[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];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6978059	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73375667	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73375677	0.97[AFR][1000 genomes]
rs73375682	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73375684	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs73375686	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7790984	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1021180	chr7:39424988-39642261	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
2	nsv1026951	chr7:39429036-39642261	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
3	nsv1018430	chr7:39455497-39643569	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv887970	chr7:39587912-39688152	Bivalent Enhancer Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
5	nsv970467	chr7:39605971-39615006	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1051162	C7orf36	cis	parietal	SCAN

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:39604600-39606600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
2	chr7:39605000-39606600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr7:39605000-39606600	Active TSS	Brain Inferior Temporal Lobe	brain
4	chr7:39605000-39606800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr7:39605000-39606800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr7:39605000-39606800	Active TSS	Aorta	Aorta
7	chr7:39605000-39606800	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr7:39605000-39606800	Active TSS	GM12878-XiMat	blood
9	chr7:39605000-39606800	Active TSS	HMEC	breast
10	chr7:39605000-39606800	Active TSS	K562	blood
11	chr7:39605000-39607000	Active TSS	iPS-15b Cell Line	embryonic stem cell
12	chr7:39605000-39607000	Active TSS	iPS-18 Cell Line	embryonic stem cell
13	chr7:39605000-39607000	Active TSS	iPS-20b Cell Line	embryonic stem cell
14	chr7:39605000-39607000	Active TSS	Fetal Kidney	kidney
15	chr7:39605000-39607000	Active TSS	NHDF-Ad	bronchial
16	chr7:39605000-39607200	Active TSS	HUES6 Cell Line	embryonic stem cell
17	chr7:39605000-39607200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr7:39605000-39607200	Active TSS	Rectal Smooth Muscle	rectum
19	chr7:39605000-39607400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr7:39605000-39607600	Active TSS	HUES48 Cell Line	embryonic stem cell
21	chr7:39605000-39607600	Active TSS	HUES64 Cell Line	embryonic stem cell
22	chr7:39605000-39607600	Active TSS	A549	lung
23	chr7:39605000-39607600	Active TSS	NHLF	lung
24	chr7:39605200-39606400	Active TSS	Brain Anterior Caudate	brain
25	chr7:39605200-39606400	Active TSS	Brain Substantia Nigra	brain
26	chr7:39605200-39606400	Active TSS	Duodenum Mucosa	Duodenum
27	chr7:39605200-39606400	Active TSS	Placenta	Placenta
28	chr7:39605200-39606600	Active TSS	Brain Cingulate Gyrus	brain
29	chr7:39605200-39606600	Active TSS	Colonic Mucosa	Colon
30	chr7:39605200-39606600	Active TSS	Colon Smooth Muscle	Colon
31	chr7:39605200-39606600	Active TSS	Duodenum Smooth Muscle	Duodenum
32	chr7:39605200-39606600	Active TSS	Fetal Heart	heart
33	chr7:39605200-39606600	Active TSS	Sigmoid Colon	Sigmoid Colon
34	chr7:39605200-39606600	Active TSS	Skeletal Muscle Male	skeletal muscle
35	chr7:39605200-39606800	Active TSS	Primary T killer memory cells from peripheral blood	blood
36	chr7:39605200-39606800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr7:39605200-39606800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr7:39605200-39606800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr7:39605200-39606800	Active TSS	Brain Hippocampus Middle	brain
40	chr7:39605200-39606800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
41	chr7:39605200-39606800	ZNF genes & repeats	Fetal Brain Male	brain
42	chr7:39605200-39606800	Active TSS	Fetal Muscle Leg	muscle
43	chr7:39605200-39606800	Active TSS	Fetal Stomach	stomach
44	chr7:39605200-39606800	Active TSS	Fetal Thymus	thymus
45	chr7:39605200-39606800	Active TSS	Stomach Mucosa	stomach
46	chr7:39605200-39606800	Active TSS	Thymus	Thymus
47	chr7:39605200-39607000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr7:39605200-39607000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr7:39605200-39607000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
50	chr7:39605200-39607000	Active TSS	Fetal Intestine Large	intestine

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