Variant report

Variant	rs73378811
Chromosome Location	chr7:83688201-83688202
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

rs_ID	r²[population]
rs17158549	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17158551	0.89[AFR][1000 genomes]
rs28414656	1.00[AMR][1000 genomes]
rs28635556	1.00[AMR][1000 genomes]
rs28671181	1.00[AMR][1000 genomes]
rs58527574	1.00[AMR][1000 genomes]
rs59923678	1.00[AMR][1000 genomes]
rs6942410	1.00[AMR][1000 genomes]
rs73376902	1.00[AMR][1000 genomes]
rs73378807	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73394441	1.00[AMR][1000 genomes]
rs73394448	1.00[AMR][1000 genomes]
rs73394455	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	nsv888624	chr7:83596683-83698177	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
2	nsv888626	chr7:83651854-83698177	Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
3	nsv888627	chr7:83659577-83708238	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
4	nsv888628	chr7:83659577-83722691	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:83673800-83707600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr7:83674600-83689600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr7:83675800-83688400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr7:83678800-83690400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr7:83685800-83688400	Weak transcription	Rectal Smooth Muscle	rectum
6	chr7:83685800-83689000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr7:83685800-83689000	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr7:83685800-83689600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:83685800-83690200	Weak transcription	NHDF-Ad	bronchial
10	chr7:83685800-83690400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr7:83685800-83691600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr7:83685800-83691800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr7:83686000-83691600	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr7:83686400-83688400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr7:83687200-83688800	Enhancers	Fetal Intestine Small	intestine
16	chr7:83687200-83688800	Enhancers	HepG2	liver
17	chr7:83687200-83691400	Enhancers	NHEK	skin
18	chr7:83687400-83688400	Weak transcription	Hela-S3	cervix
19	chr7:83687400-83688800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr7:83687400-83688800	Enhancers	Fetal Intestine Large	intestine
21	chr7:83687400-83691000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr7:83687400-83691200	Enhancers	HMEC	breast
23	chr7:83687600-83688600	Flanking Active TSS	NH-A	brain
24	chr7:83687600-83688800	Flanking Active TSS	A549	lung
25	chr7:83687600-83690200	Enhancers	HUVEC	blood vessel
26	chr7:83687800-83688400	Enhancers	Primary T cells from cord blood	blood
27	chr7:83687800-83688600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr7:83687800-83688800	Enhancers	Osteobl	bone
29	chr7:83688000-83688600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr7:83688000-83688600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr7:83688000-83688600	Enhancers	Rectal Mucosa Donor 31	rectum
32	chr7:83688000-83688800	Genic enhancers	HUES64 Cell Line	embryonic stem cell
33	chr7:83688000-83689800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr7:83688000-83689800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr7:83688200-83688400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr7:83688200-83688400	Enhancers	Muscle Satellite Cultured Cells	--
37	chr7:83688200-83688400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
38	chr7:83688200-83688600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr7:83688200-83688600	Enhancers	NHLF	lung

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