Variant report

Variant	rs28708904
Chromosome Location	chr7:83776694-83776695
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 30 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10488269	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17158607	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17158642	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17158647	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17158675	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1990046	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28433968	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58382291	0.91[ASN][1000 genomes]
rs58741896	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59186128	0.91[ASN][1000 genomes]
rs6944814	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6946101	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6975522	0.91[ASN][1000 genomes]
rs73177447	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73177452	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73177461	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73177476	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73177479	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73177487	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs73378880	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73378884	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73380806	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73380837	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73380843	0.91[ASN][1000 genomes]
rs7787696	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7808547	0.86[EUR][1000 genomes];1.00[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	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:83767000-83776800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr7:83770800-83795000	Weak transcription	NHDF-Ad	bronchial
3	chr7:83771800-83777800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr7:83772000-83777200	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr7:83773000-83779400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr7:83773200-83779000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr7:83774000-83776800	Enhancers	Duodenum Smooth Muscle	Duodenum
8	chr7:83774000-83778600	Enhancers	Colon Smooth Muscle	Colon
9	chr7:83774200-83778000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr7:83774200-83778000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr7:83774600-83776800	Enhancers	HUES64 Cell Line	embryonic stem cell
12	chr7:83774600-83777800	Enhancers	HUES48 Cell Line	embryonic stem cell
13	chr7:83774600-83777800	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr7:83774600-83777800	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr7:83774600-83778000	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr7:83775200-83777000	Enhancers	NHLF	lung
17	chr7:83775400-83778800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr7:83775400-83791600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr7:83775600-83777400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr7:83775600-83778000	Weak transcription	Rectal Smooth Muscle	rectum
21	chr7:83775600-83778600	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr7:83775600-83779200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr7:83775800-83777000	Enhancers	A549	lung
24	chr7:83775800-83778000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr7:83775800-83778400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr7:83776000-83777600	Weak transcription	Fetal Lung	lung
27	chr7:83776200-83777000	Enhancers	Stomach Smooth Muscle	stomach
28	chr7:83776400-83776800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr7:83776600-83776800	Enhancers	iPS-15b Cell Line	embryonic stem cell

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