Variant report

Variant	rs6946101
Chromosome Location	chr7:83759104-83759105
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:83719585..83722365-chr7:83758101..83759838,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10488269	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17158607	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17158642	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17158647	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17158675	0.91[ASN][1000 genomes]
rs1990046	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28433968	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28708904	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58382291	0.91[ASN][1000 genomes]
rs58741896	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59186128	0.91[ASN][1000 genomes]
rs6944814	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6975522	0.91[ASN][1000 genomes]
rs73177447	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73177452	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73177461	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73177476	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73177479	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73378880	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73378884	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73380806	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73380837	0.91[ASN][1000 genomes]
rs73380843	0.91[ASN][1000 genomes]
rs7787696	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7808547	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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	esv994067	chr7:83749438-83759598	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:83734400-83762800	Weak transcription	Fetal Muscle Leg	muscle
2	chr7:83745000-83769400	Weak transcription	Fetal Stomach	stomach
3	chr7:83752600-83769600	Weak transcription	A549	lung
4	chr7:83753600-83760600	Weak transcription	Fetal Lung	lung
5	chr7:83753800-83759400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr7:83753800-83763400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr7:83753800-83763400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr7:83753800-83763400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr7:83753800-83766800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr7:83753800-83766800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr7:83753800-83768000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr7:83753800-83768200	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr7:83753800-83769600	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr7:83753800-83770800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr7:83754000-83763400	Weak transcription	Stomach Smooth Muscle	stomach
16	chr7:83754000-83767400	Weak transcription	NHLF	lung
17	chr7:83754000-83767800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr7:83754000-83772200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr7:83754000-83774200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr7:83754800-83763400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr7:83755000-83763400	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr7:83755000-83768800	Weak transcription	Colon Smooth Muscle	Colon
23	chr7:83756400-83759600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr7:83756800-83763000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr7:83756800-83764000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr7:83757200-83762400	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr7:83758000-83760000	Strong transcription	NHDF-Ad	bronchial
28	chr7:83758600-83765400	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr7:83759000-83761200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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