Variant report

Variant	rs6978184
Chromosome Location	chr7:83778360-83778361
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 31 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10259508	0.84[EUR][1000 genomes]
rs10261415	1.00[CEU][hapmap];0.90[GIH][hapmap];1.00[MEX][hapmap];0.88[EUR][1000 genomes]
rs10263314	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10808306	1.00[CEU][hapmap];0.91[EUR][1000 genomes]
rs12707617	0.84[CEU][hapmap]
rs12707619	0.89[EUR][1000 genomes]
rs1468345	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs1468346	0.83[EUR][1000 genomes]
rs2040872	0.91[EUR][1000 genomes]
rs2067693	1.00[CEU][hapmap];0.90[GIH][hapmap];1.00[MEX][hapmap];0.88[EUR][1000 genomes]
rs2158566	0.88[EUR][1000 genomes]
rs3801655	1.00[CEU][hapmap];0.90[GIH][hapmap];1.00[MEX][hapmap];0.88[EUR][1000 genomes]
rs4141151	0.90[EUR][1000 genomes]
rs447	1.00[CEU][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];0.91[LWK][hapmap];1.00[MEX][hapmap];0.92[MKK][hapmap];0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs464	0.86[CHB][hapmap];0.92[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.93[ASN][1000 genomes]
rs6467988	0.88[EUR][1000 genomes]
rs6651129	0.82[EUR][1000 genomes]
rs6964546	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs6977099	0.90[EUR][1000 genomes]
rs6977516	0.86[CHB][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs7781923	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs7783472	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs7785708	1.00[CEU][hapmap];0.90[EUR][1000 genomes]
rs7793598	1.00[CEU][hapmap];0.89[GIH][hapmap];0.91[MEX][hapmap];0.88[EUR][1000 genomes]
rs7804563	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7808864	0.84[CEU][hapmap];0.90[GIH][hapmap];0.85[MEX][hapmap]

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	nsv529344	chr7:83714286-84592857	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv888629	chr7:83722691-83896025	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv1017884	chr7:83724138-83972995	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv538995	chr7:83724138-83972995	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
5	esv3692934	chr7:83778360-83786460	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:28 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:83770800-83795000	Weak transcription	NHDF-Ad	bronchial
2	chr7:83773000-83779400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr7:83773200-83779000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr7:83774000-83778600	Enhancers	Colon Smooth Muscle	Colon
5	chr7:83775400-83778800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr7:83775400-83791600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr7:83775600-83778600	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr7:83775600-83779200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr7:83775800-83778400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr7:83776800-83778800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr7:83776800-83784800	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr7:83777000-83778800	Weak transcription	A549	lung
13	chr7:83777000-83803000	Weak transcription	NHLF	lung
14	chr7:83777400-83778400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr7:83777600-83778400	Enhancers	Fetal Lung	lung
16	chr7:83777600-83778600	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr7:83777600-83780000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr7:83777800-83778400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
19	chr7:83777800-83779400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
20	chr7:83777800-83779600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
21	chr7:83777800-83780000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr7:83778000-83778400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
23	chr7:83778000-83780000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr7:83778000-83803000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr7:83778200-83778600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr7:83778200-83778600	Weak transcription	Rectal Smooth Muscle	rectum
27	chr7:83778200-83779200	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
28	chr7:83778200-83779400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell

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