Variant report

Variant	rs716077
Chromosome Location	chr8:131125713-131125714
allele	A/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	TCF12	chr8:131124716-131125985	ECC-1	luminal epithelium:	n/a	chr8:131124857-131124866
2	MAX	chr8:131125290-131125741	ECC-1	luminal epithelium:	n/a	n/a
3	EP300	chr8:131124726-131126022	ECC-1	luminal epithelium:	n/a	chr8:131124856-131124866 chr8:131125751-131125760
4	TEAD4	chr8:131124785-131125863	ECC-1	luminal epithelium:	n/a	n/a
5	USF1	chr8:131125315-131125776	ECC-1	luminal epithelium:	n/a	n/a
6	NR3C1	chr8:131125389-131125720	ECC-1	luminal epithelium:	n/a	n/a
7	TEAD4	chr8:131124876-131125849	ECC-1	luminal epithelium:	n/a	n/a
8	NFIC	chr8:131124927-131125899	ECC-1	luminal epithelium:	n/a	n/a
9	POLR2A	chr8:131125536-131125753	SK-N-SH	brain:	n/a	n/a
10	NFIC	chr8:131124787-131125965	ECC-1	luminal epithelium:	n/a	n/a
11	USF1	chr8:131125338-131125779	ECC-1	luminal epithelium:	n/a	n/a
12	MAX	chr8:131124871-131125877	ECC-1	luminal epithelium:	n/a	n/a
13	NR3C1	chr8:131125442-131125714	ECC-1	luminal epithelium:	n/a	n/a

Variant related genes	Relation type
ASAP1	TF binding region

Extended variants
information (count: 92 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs10505548	1.00[CHB][hapmap];0.95[JPT][hapmap]
rs10505549	0.87[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs10956513	0.84[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs10956515	0.82[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs10956517	0.86[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs11781752	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs12541083	0.82[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs12541938	0.84[ASN][1000 genomes]
rs12542411	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12545910	0.88[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12546088	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs12546603	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12547397	0.91[AFR][1000 genomes]
rs12547540	0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12675390	1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs12675543	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12675865	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap]
rs12676836	0.82[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs12679283	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12681954	0.84[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs12681955	0.84[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs1467048	0.93[CEU][hapmap]
rs1469286	0.82[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1549455	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs16893271	0.91[AFR][1000 genomes]
rs16904190	0.83[CHB][hapmap]
rs16904197	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs16904199	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[ASN][1000 genomes]
rs16904204	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16904208	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs16904212	0.89[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs16904219	0.84[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs16904223	0.85[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs16904231	0.82[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.80[ASN][1000 genomes]
rs16904239	0.82[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs16904241	0.82[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes]
rs1960661	1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1974313	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes]
rs2027377	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2045091	1.00[CEU][hapmap];0.82[ASN][1000 genomes]
rs2305511	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2395989	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs36004574	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs3812476	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4236749	1.00[CEU][hapmap];0.87[CHB][hapmap];0.95[JPT][hapmap]
rs4461944	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap]
rs4733569	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4733573	0.82[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap]
rs4733771	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4733772	0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4733782	0.92[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs4733783	0.82[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs55759245	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55796310	0.81[ASN][1000 genomes]
rs55993168	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs56182202	0.82[ASN][1000 genomes]
rs57198371	0.86[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs59297824	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62524627	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62524628	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62524629	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs62524632	0.91[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs62524635	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62524643	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62524644	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62524647	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62524649	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62525884	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs62525885	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs62525888	0.83[ASN][1000 genomes]
rs62525889	0.83[ASN][1000 genomes]
rs62525921	0.91[AFR][1000 genomes]
rs62525922	0.91[AFR][1000 genomes]
rs62525927	0.91[AFR][1000 genomes]
rs62525928	0.86[AFR][1000 genomes]
rs6991714	0.87[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.85[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6996106	0.87[CHB][hapmap];0.82[JPT][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6996469	0.84[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap]
rs7006336	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72722330	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72722366	0.85[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs72722371	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs72724420	0.91[AFR][1000 genomes]
rs7462286	0.93[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs754021	0.84[CEU][hapmap];0.92[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv612231	chr8:130868212-131132592	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv524349	chr8:130868363-131132592	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv869334	chr8:131025093-131651487	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	nsv915580	chr8:131025093-131667578	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv465810	chr8:131039109-131331012	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
6	nsv612234	chr8:131039109-131331012	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
7	nsv533085	chr8:131042781-131755007	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:131076200-131170600	Weak transcription	Small Intestine	intestine
2	chr8:131113000-131142000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:131113400-131128200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr8:131114400-131138000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr8:131114600-131137200	Strong transcription	A549	lung
6	chr8:131114800-131130800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr8:131115200-131137600	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr8:131115800-131138200	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr8:131116000-131141400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr8:131116000-131141400	Strong transcription	Primary T cells from cord blood	blood
11	chr8:131116000-131193800	Strong transcription	Primary neutrophils fromperipheralblood	blood
12	chr8:131116600-131132000	Strong transcription	Primary T cells fromperipheralblood	blood
13	chr8:131116600-131133200	Strong transcription	Muscle Satellite Cultured Cells	--
14	chr8:131117400-131130800	Strong transcription	Hela-S3	cervix
15	chr8:131117400-131132800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chr8:131117400-131137200	Strong transcription	NHLF	lung
17	chr8:131117600-131133400	Strong transcription	Fetal Brain Female	brain
18	chr8:131117600-131136800	Strong transcription	Stomach Smooth Muscle	stomach
19	chr8:131118000-131128600	Strong transcription	Fetal Stomach	stomach
20	chr8:131118000-131130800	Strong transcription	Sigmoid Colon	Sigmoid Colon
21	chr8:131118000-131133200	Strong transcription	Primary T helper cells fromperipheralblood	blood
22	chr8:131118000-131136000	Strong transcription	Thymus	Thymus
23	chr8:131118000-131141000	Strong transcription	Cortex derived primary cultured neurospheres	brain
24	chr8:131118200-131129800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr8:131118200-131131000	Strong transcription	Rectal Mucosa Donor 29	rectum
26	chr8:131118400-131129200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr8:131118400-131131000	Strong transcription	Duodenum Smooth Muscle	Duodenum
28	chr8:131118400-131140400	Strong transcription	Placenta	Placenta
29	chr8:131118400-131140800	Strong transcription	Primary B cells from peripheral blood	blood
30	chr8:131118400-131143600	Weak transcription	Stomach Mucosa	stomach
31	chr8:131118600-131137800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr8:131118600-131140800	Strong transcription	Primary B cells from cord blood	blood
33	chr8:131118800-131129600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr8:131118800-131131400	Strong transcription	Primary T helper cells PMA-I stimulated	--
35	chr8:131118800-131140200	Strong transcription	Fetal Thymus	thymus
36	chr8:131118800-131141000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
37	chr8:131119000-131130200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr8:131119000-131137400	Strong transcription	Osteobl	bone
39	chr8:131119200-131133400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr8:131119200-131136000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr8:131119200-131137200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr8:131119200-131138000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr8:131119400-131128400	Strong transcription	Adipose Nuclei	Adipose
44	chr8:131119600-131128600	Strong transcription	Lung	lung
45	chr8:131119600-131128600	Strong transcription	Spleen	Spleen
46	chr8:131119600-131133800	Strong transcription	Fetal Intestine Large	intestine
47	chr8:131119600-131140800	Strong transcription	Liver	Liver
48	chr8:131119800-131127200	Strong transcription	Left Ventricle	heart
49	chr8:131119800-131127600	Strong transcription	Fetal Intestine Small	intestine
50	chr8:131119800-131130600	Strong transcription	Ovary	ovary

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