Variant report

Variant	rs55996000
Chromosome Location	chr7:100757639-100757640
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:100755368..100757885-chr7:100766131..100768101,2	K562	blood:
2	chr7:100752507..100754161-chr7:100756602..100759066,2	MCF-7	breast:
3	chr7:100754972..100758673-chr7:100760651..100765191,4	K562	blood:
4	chr7:100755889..100757654-chr7:100761288..100763415,3	K562	blood:
5	chr7:100750163..100751939-chr7:100756081..100757683,2	MCF-7	breast:
6	chr7:100743845..100746782-chr7:100757454..100760117,2	K562	blood:
7	chr7:100486630..100488424-chr7:100756807..100758867,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000176125	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11770414	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11772356	0.87[EUR][1000 genomes]
rs12667943	0.90[AMR][1000 genomes]
rs12669411	0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs57656984	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1031942	chr7:100606734-100788660	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	esv1833777	chr7:100632790-100800131	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv1033081	chr7:100669629-100771824	Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv831075	chr7:100692297-100917018	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
5	nsv933653	chr7:100701931-101515782	Active TSS ZNF genes & repeats Bivalent Enhancer Enhancers Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	107 gene(s)	inside rSNPs	diseases
6	nsv1030604	chr7:100717732-101223465	Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
7	nsv464649	chr7:100739682-100810983	Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
8	nsv607972	chr7:100739682-100810983	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
9	esv2422376	chr7:100743485-101016471	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100747600-100760400	Weak transcription	HUES6 Cell Line	embryonic stem cell
2	chr7:100747800-100760600	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr7:100750000-100760200	Weak transcription	Hela-S3	cervix
4	chr7:100752400-100764600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr7:100752600-100765400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr7:100752800-100760200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr7:100752800-100760600	Weak transcription	K562	blood
8	chr7:100753400-100760400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr7:100755000-100764800	Weak transcription	Psoas Muscle	Psoas
10	chr7:100755600-100763200	Weak transcription	Lung	lung
11	chr7:100755800-100760200	Weak transcription	HSMMtube	muscle
12	chr7:100755800-100760800	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr7:100756000-100760200	Weak transcription	Left Ventricle	heart
14	chr7:100756000-100760200	Weak transcription	Right Atrium	heart
15	chr7:100756000-100760400	Weak transcription	Right Ventricle	heart
16	chr7:100756000-100763200	Weak transcription	Spleen	Spleen
17	chr7:100756200-100760400	Weak transcription	Ovary	ovary
18	chr7:100757000-100765400	Enhancers	HUVEC	blood vessel
19	chr7:100757200-100757800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr7:100757200-100758200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr7:100757200-100758200	Enhancers	HMEC	breast
22	chr7:100757200-100758200	Enhancers	HSMM	muscle
23	chr7:100757200-100758200	Enhancers	NHEK	skin
24	chr7:100757200-100758400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr7:100757200-100758400	Enhancers	Osteobl	bone
26	chr7:100757400-100757800	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr7:100757400-100757800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr7:100757400-100757800	Enhancers	NHLF	lung
29	chr7:100757400-100758000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr7:100757400-100758000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr7:100757400-100758000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr7:100757400-100758000	Enhancers	Placenta Amnion	Placenta Amnion
33	chr7:100757400-100758200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr7:100757400-100758200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr7:100757400-100758200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr7:100757400-100758200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
37	chr7:100757400-100758200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr7:100757400-100758400	Enhancers	NH-A	brain
39	chr7:100757400-100759000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr7:100757400-100759000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr7:100757400-100759200	Enhancers	NHDF-Ad	bronchial
42	chr7:100757600-100758000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr7:100757600-100758000	Flanking Active TSS	A549	lung
44	chr7:100757600-100759800	Weak transcription	HepG2	liver
45	chr7:100757600-100770400	Enhancers	Placenta	Placenta

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links