Variant report

Variant	rs73378899
Chromosome Location	chr7:83767515-83767516
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:83766680..83768990-chr7:83769908..83771879,2	K562	blood:
2	chr7:83731925..83734584-chr7:83767257..83769496,2	K562	blood:

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs12113490	1.00[AMR][1000 genomes]
rs73376900	1.00[AMR][1000 genomes]
rs73378827	1.00[AMR][1000 genomes]
rs73378832	1.00[AMR][1000 genomes]
rs73380807	0.85[AFR][1000 genomes]
rs73380817	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73382860	1.00[AMR][1000 genomes]
rs73382867	1.00[AMR][1000 genomes]
rs73384812	1.00[AMR][1000 genomes]
rs73384814	1.00[AMR][1000 genomes]
rs73384886	1.00[AMR][1000 genomes]
rs73384901	1.00[AMR][1000 genomes]
rs7780589	1.00[AMR][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:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:83745000-83769400	Weak transcription	Fetal Stomach	stomach
2	chr7:83752600-83769600	Weak transcription	A549	lung
3	chr7:83753800-83768000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr7:83753800-83768200	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr7:83753800-83769600	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr7:83753800-83770800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr7:83754000-83767800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr7:83754000-83772200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr7:83754000-83774200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr7:83755000-83768800	Weak transcription	Colon Smooth Muscle	Colon
11	chr7:83761000-83768600	Weak transcription	Fetal Lung	lung
12	chr7:83761000-83775200	Weak transcription	Rectal Smooth Muscle	rectum
13	chr7:83764200-83767800	Weak transcription	NHDF-Ad	bronchial
14	chr7:83764200-83771800	Weak transcription	Stomach Smooth Muscle	stomach
15	chr7:83764400-83769600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr7:83764400-83771000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr7:83764400-83774000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr7:83765400-83769000	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr7:83765400-83769000	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr7:83765600-83773400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr7:83765800-83768800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr7:83766600-83767600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr7:83766800-83768000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr7:83766800-83770000	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr7:83767000-83776800	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr7:83767200-83769800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr7:83767400-83767600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr7:83767400-83767800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr7:83767400-83768600	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr7:83767400-83768800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr7:83767400-83769200	Enhancers	NHLF	lung
32	chr7:83767400-83769600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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