Variant report

Variant	rs4734047
Chromosome Location	chr8:102987569-102987570
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	RELA	chr8:102986760-102987582	GM12878	blood:	n/a	n/a
2	RAD21	chr8:102987434-102987801	H1-hESC	embryonic stem cell:	n/a	n/a
3	SMC3	chr8:102987390-102987610	GM12878	blood:	n/a	n/a
4	POU2F2	chr8:102987425-102987830	GM12891	blood:	n/a	chr8:102987643-102987656
5	RUNX3	chr8:102987367-102987851	GM12878	blood:	n/a	n/a
6	POLR2A	chr8:102987394-102987923	Raji	blood:	n/a	n/a
7	POLR2A	chr8:102987408-102987596	GM12891	blood:	n/a	n/a
8	POLR2A	chr8:102987379-102987916	GM12891	blood:	n/a	n/a

Variant related genes	Relation type
NCALD	TF binding region

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs10098273	0.90[EUR][1000 genomes]
rs10099842	0.92[CEU][hapmap];0.88[EUR][1000 genomes]
rs1119377	1.00[CEU][hapmap];0.85[CHB][hapmap];0.90[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11778653	0.96[CEU][hapmap];0.90[EUR][1000 genomes]
rs12545403	0.96[CEU][hapmap];0.92[EUR][1000 genomes]
rs1371739	0.88[EUR][1000 genomes]
rs1371740	0.92[CEU][hapmap];0.86[EUR][1000 genomes]
rs1543771	1.00[CEU][hapmap];0.90[CHB][hapmap];0.91[JPT][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17495818	0.96[CEU][hapmap];0.92[EUR][1000 genomes]
rs1866690	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1866691	0.96[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1866692	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1866693	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2119226	0.89[CEU][hapmap]
rs4145554	0.96[CEU][hapmap];0.92[EUR][1000 genomes]
rs4734043	1.00[CEU][hapmap];0.81[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4734044	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4734045	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4734046	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4734048	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4734602	0.89[CEU][hapmap];0.86[EUR][1000 genomes]
rs4734603	0.92[CEU][hapmap];0.86[EUR][1000 genomes]
rs4734604	0.88[EUR][1000 genomes]
rs4734606	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6468803	0.96[CEU][hapmap];0.90[EUR][1000 genomes]
rs6468804	0.96[CEU][hapmap];0.86[EUR][1000 genomes]
rs6468805	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6468806	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6468807	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6981347	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6982001	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6991019	0.96[CEU][hapmap];0.91[EUR][1000 genomes]
rs6991178	0.96[CEU][hapmap];0.92[EUR][1000 genomes]
rs6995105	0.92[CEU][hapmap];0.86[EUR][1000 genomes]
rs6999047	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6999316	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7003320	1.00[CEU][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7010848	0.96[CEU][hapmap];0.91[EUR][1000 genomes]
rs7015981	0.96[CEU][hapmap];0.91[EUR][1000 genomes]
rs7820244	0.92[CEU][hapmap];0.88[EUR][1000 genomes]
rs7823856	1.00[CEU][hapmap];0.90[CHB][hapmap];0.90[JPT][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7838556	0.96[CEU][hapmap];0.92[EUR][1000 genomes]
rs7838767	0.92[EUR][1000 genomes]
rs7839884	0.92[CEU][hapmap];0.88[EUR][1000 genomes]
rs7840045	0.92[CEU][hapmap];0.86[EUR][1000 genomes]
rs7841927	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[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	nsv1018653	chr8:102818271-103009082	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv539700	chr8:102818271-103009082	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv831411	chr8:102937991-103108140	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:102965400-102989800	Weak transcription	Stomach Smooth Muscle	stomach
2	chr8:102976000-102992000	Weak transcription	Right Ventricle	heart
3	chr8:102980200-102988200	Weak transcription	Spleen	Spleen
4	chr8:102981000-102992000	Weak transcription	Esophagus	oesophagus
5	chr8:102981400-102989800	Weak transcription	Aorta	Aorta
6	chr8:102983400-102991400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr8:102983600-102991200	Weak transcription	Rectal Smooth Muscle	rectum
8	chr8:102983600-102992000	Weak transcription	Left Ventricle	heart
9	chr8:102985600-102987800	Weak transcription	Fetal Muscle Leg	muscle
10	chr8:102985800-102987600	Enhancers	Psoas Muscle	Psoas
11	chr8:102985800-102989800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr8:102986000-102988000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr8:102986200-102988000	Enhancers	NHEK	skin
14	chr8:102986400-102988000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr8:102986400-102990400	Weak transcription	Fetal Heart	heart
16	chr8:102986600-102987800	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr8:102987000-102988000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr8:102987000-102988000	Flanking Active TSS	GM12878-XiMat	blood
19	chr8:102987000-102988200	Weak transcription	Ovary	ovary
20	chr8:102987200-102988200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr8:102987200-102991000	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr8:102987400-102988000	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr8:102987400-102988000	Enhancers	H1 Cell Line	embryonic stem cell
24	chr8:102987400-102988000	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr8:102987400-102988000	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr8:102987400-102988000	Enhancers	HUES64 Cell Line	embryonic stem cell
27	chr8:102987400-102988200	Enhancers	iPS-15b Cell Line	embryonic stem cell
28	chr8:102987400-102988600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr8:102987400-102990800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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