Variant report

Variant	rs7829116
Chromosome Location	chr8:121060449-121060450
allele	C/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	SP4	chr8:121060214-121060597	H1-hESC	embryonic stem cell:	n/a	n/a
2	BCL11A	chr8:121060392-121060659	H1-hESC	embryonic stem cell:	n/a	n/a
3	BCL11A	chr8:121060400-121060692	H1-hESC	embryonic stem cell:	n/a	n/a
4	POU5F1	chr8:121060281-121060849	H1-hESC	embryonic stem cell:	n/a	chr8:121060606-121060620 chr8:121060606-121060620 chr8:121060606-121060620 chr8:121060607-121060621
5	TCF12	chr8:121060438-121060653	H1-hESC	embryonic stem cell:	n/a	n/a
6	TEAD4	chr8:121060156-121060838	H1-hESC	embryonic stem cell:	n/a	n/a
7	TCF12	chr8:121060296-121060733	H1-hESC	embryonic stem cell:	n/a	n/a
8	EP300	chr8:121060260-121060811	H1-hESC	embryonic stem cell:	n/a	chr8:121060760-121060774
9	CTBP2	chr8:121060155-121060749	H1-hESC	embryonic stem cell:	n/a	n/a
10	NANOG	chr8:121060422-121060744	H1-hESC	embryonic stem cell:	n/a	chr8:121060556-121060570
11	TEAD4	chr8:121060320-121060796	ECC-1	luminal epithelium:	n/a	n/a
12	MAX	chr8:121060220-121060714	H1-hESC	embryonic stem cell:	n/a	n/a
13	TEAD4	chr8:121060243-121060838	ECC-1	luminal epithelium:	n/a	n/a
14	YY1	chr8:121060399-121060819	H1-hESC	embryonic stem cell:	n/a	n/a
15	SP1	chr8:121060171-121060852	H1-hESC	embryonic stem cell:	n/a	n/a
16	EP300	chr8:121060318-121060675	H1-hESC	embryonic stem cell:	n/a	n/a
17	POLR2A	chr8:121060282-121061041	H1-hESC	embryonic stem cell:	n/a	n/a
18	ATF2	chr8:121060142-121060839	H1-hESC	embryonic stem cell:	n/a	n/a
19	HDAC2	chr8:121060430-121060738	H1-hESC	embryonic stem cell:	n/a	n/a
20	CHD2	chr8:121060299-121060748	H1-hESC	embryonic stem cell:	n/a	n/a
21	SP1	chr8:121060207-121060752	H1-hESC	embryonic stem cell:	n/a	n/a
22	TEAD4	chr8:121060275-121060791	H1-hESC	embryonic stem cell:	n/a	n/a
23	RAD21	chr8:121060281-121060745	H1-hESC	embryonic stem cell:	n/a	n/a
24	YY1	chr8:121060152-121060732	H1-hESC	embryonic stem cell:	n/a	n/a
25	JUND	chr8:121060327-121061040	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
ENSG00000254343	TF binding region

Extended variants
information (count: 83 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs10090001	0.90[EUR][1000 genomes]
rs10095205	0.86[EUR][1000 genomes]
rs10095532	0.86[EUR][1000 genomes]
rs10101620	0.90[EUR][1000 genomes]
rs10101943	0.92[CEU][hapmap];0.90[EUR][1000 genomes]
rs10505376	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs10808506	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs10955948	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1120223	0.86[EUR][1000 genomes]
rs11780912	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11780985	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12114445	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12386849	0.81[ASN][1000 genomes]
rs12542032	0.81[ASN][1000 genomes]
rs12542895	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12543907	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12545676	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12548223	0.90[JPT][hapmap]
rs12548273	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1401811	0.81[ASN][1000 genomes]
rs1519807	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1519808	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1519812	0.85[CHB][hapmap];0.90[JPT][hapmap];0.81[ASN][1000 genomes]
rs1519813	0.96[CEU][hapmap];0.86[CHB][hapmap];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs16893478	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16893517	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs16893536	0.80[JPT][hapmap]
rs16893570	0.80[JPT][hapmap]
rs17226296	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs17822044	0.90[JPT][hapmap]
rs1980228	0.85[CEU][hapmap];0.86[EUR][1000 genomes]
rs2292946	0.92[CEU][hapmap];0.90[EUR][1000 genomes]
rs28530768	0.86[EUR][1000 genomes]
rs2875928	0.92[CEU][hapmap];0.90[EUR][1000 genomes]
rs2875931	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4427214	0.81[JPT][hapmap]
rs4871825	0.90[JPT][hapmap]
rs4871828	0.94[EUR][1000 genomes]
rs56702755	0.87[EUR][1000 genomes]
rs57868486	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs60717250	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs60754245	0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6469894	0.92[EUR][1000 genomes]
rs6469895	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6469897	0.93[EUR][1000 genomes]
rs66490854	0.94[EUR][1000 genomes]
rs66507952	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs66608823	0.81[ASN][1000 genomes]
rs66614869	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67872361	0.84[EUR][1000 genomes]
rs6980708	0.96[CEU][hapmap];0.95[EUR][1000 genomes]
rs6981402	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6986231	0.90[EUR][1000 genomes]
rs6993924	0.89[EUR][1000 genomes]
rs6998730	0.90[EUR][1000 genomes]
rs7000436	0.81[JPT][hapmap]
rs7004815	0.92[CEU][hapmap];0.90[EUR][1000 genomes]
rs7005228	0.90[EUR][1000 genomes]
rs7007998	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7013298	0.92[CEU][hapmap];0.90[EUR][1000 genomes]
rs7016816	0.92[CEU][hapmap];0.86[CHB][hapmap];0.93[EUR][1000 genomes]
rs72675741	0.86[ASN][1000 genomes]
rs73315941	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7816925	0.80[JPT][hapmap]
rs7817016	0.92[CEU][hapmap];0.94[EUR][1000 genomes]
rs7817522	0.81[ASN][1000 genomes]
rs7821947	0.90[CEU][hapmap];1.00[CHB][hapmap];0.83[JPT][hapmap];0.94[EUR][1000 genomes]
rs7822662	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7822927	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7829101	0.84[CEU][hapmap];0.86[EUR][1000 genomes]
rs7830028	0.86[EUR][1000 genomes]
rs7833073	0.92[CEU][hapmap];0.90[EUR][1000 genomes]
rs7836087	0.92[CEU][hapmap];0.94[EUR][1000 genomes]
rs7840217	0.80[JPT][hapmap]
rs7841230	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7841621	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7843503	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs955293	0.81[CEU][hapmap];0.92[EUR][1000 genomes]
rs960887	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891418	chr8:120600965-121301474	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv1027974	chr8:120885478-121079658	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv539739	chr8:120885478-121079658	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	esv3348294	chr8:121000288-121250984	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7829116	DEPDC6	cis	uninvolved skin	skin_eQTL
rs7829116	DEPDC6	cis	normal skin	skin_eQTL

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121017000-121067000	Weak transcription	Brain Anterior Caudate	brain
2	chr8:121022400-121065400	Weak transcription	Left Ventricle	heart
3	chr8:121036000-121063800	Weak transcription	Primary hematopoietic stem cells	blood
4	chr8:121038400-121061800	Weak transcription	Adipose Nuclei	Adipose
5	chr8:121042000-121063400	Weak transcription	Spleen	Spleen
6	chr8:121046200-121065200	Weak transcription	Psoas Muscle	Psoas
7	chr8:121048600-121061800	Weak transcription	Fetal Intestine Large	intestine
8	chr8:121048600-121061800	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr8:121048800-121063600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr8:121048800-121063600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr8:121049200-121062200	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr8:121049200-121072800	Weak transcription	Fetal Lung	lung
13	chr8:121049200-121072800	Weak transcription	Stomach Smooth Muscle	stomach
14	chr8:121053600-121064000	Weak transcription	Duodenum Mucosa	Duodenum
15	chr8:121053600-121067200	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr8:121053600-121072800	Weak transcription	Brain Angular Gyrus	brain
17	chr8:121053600-121072800	Weak transcription	Brain Substantia Nigra	brain
18	chr8:121053600-121072800	Weak transcription	Skeletal Muscle Male	skeletal muscle
19	chr8:121053800-121072800	Weak transcription	Brain Cingulate Gyrus	brain
20	chr8:121054600-121061800	Weak transcription	Brain Hippocampus Middle	brain
21	chr8:121054600-121061800	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr8:121055200-121060800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr8:121057000-121060600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr8:121057400-121061800	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr8:121058400-121065400	Weak transcription	Pancreas	Pancrea
26	chr8:121058400-121066200	Weak transcription	Gastric	stomach
27	chr8:121058600-121061600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr8:121059200-121060600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr8:121059200-121061800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr8:121059400-121077800	Weak transcription	Fetal Stomach	stomach
31	chr8:121059600-121064600	Weak transcription	Fetal Intestine Small	intestine
32	chr8:121059800-121060600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr8:121060000-121060600	Enhancers	Fetal Muscle Trunk	muscle
34	chr8:121060000-121061000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr8:121060000-121061000	Enhancers	Ovary	ovary
36	chr8:121060000-121062600	Enhancers	H1 Cell Line	embryonic stem cell
37	chr8:121060200-121060600	Active TSS	HUES48 Cell Line	embryonic stem cell
38	chr8:121060200-121060600	Enhancers	Fetal Muscle Leg	muscle
39	chr8:121060200-121060600	Enhancers	Osteobl	bone
40	chr8:121060200-121060800	Active TSS	ES-I3 Cell Line	embryonic stem cell
41	chr8:121060200-121060800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr8:121060200-121060800	Enhancers	Colon Smooth Muscle	Colon
43	chr8:121060200-121060800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr8:121060200-121060800	Enhancers	Fetal Kidney	kidney
45	chr8:121060200-121061000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr8:121060200-121061000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
47	chr8:121060200-121061200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr8:121060200-121062600	Enhancers	Liver	Liver
49	chr8:121060400-121060600	Active TSS	HUES6 Cell Line	embryonic stem cell
50	chr8:121060400-121060600	Active TSS	HUES64 Cell Line	embryonic stem cell

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