Variant report

Variant	rs852377
Chromosome Location	chr7:5675101-5675102
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:5674219..5675152-chr7:5743782..5744684,2	MCF-7	breast:
2	chr7:5630981..5635374-chr7:5673788..5678514,7	K562	blood:
3	chr7:5673316..5675722-chr7:5676107..5679530,3	K562	blood:
4	chr7:5661377..5664356-chr7:5673284..5675740,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000075618	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs1628786	0.83[AMR][1000 genomes]
rs1725186	0.83[AMR][1000 genomes]
rs2693951	0.83[AMR][1000 genomes]
rs710939	0.83[AMR][1000 genomes]
rs710940	0.83[AMR][1000 genomes]
rs710942	0.83[AMR][1000 genomes]
rs852260	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs852262	0.83[AMR][1000 genomes]
rs852264	0.83[AMR][1000 genomes]
rs852381	0.83[AMR][1000 genomes]
rs852383	0.83[AMR][1000 genomes]
rs852398	0.83[AMR][1000 genomes]
rs852399	0.83[AMR][1000 genomes]
rs852401	0.83[AMR][1000 genomes]
rs852404	0.83[AMR][1000 genomes]
rs852407	0.83[AMR][1000 genomes]
rs852408	0.83[AMR][1000 genomes]
rs852412	0.83[AMR][1000 genomes]
rs852413	0.83[AMR][1000 genomes]
rs852416	0.83[AMR][1000 genomes]
rs852419	0.83[AMR][1000 genomes]
rs852443	0.83[AMR][1000 genomes]
rs852449	0.83[AMR][1000 genomes]
rs852451	0.83[AMR][1000 genomes]
rs852458	0.83[AMR][1000 genomes]
rs852465	0.83[AMR][1000 genomes]
rs852476	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs852480	0.83[AMR][1000 genomes]
rs852490	0.83[AMR][1000 genomes]
rs852495	0.83[AMR][1000 genomes]
rs852518	0.83[AMR][1000 genomes]
rs852523	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs852524	0.83[AMR][1000 genomes]
rs852525	0.83[AMR][1000 genomes]
rs852536	0.83[AMR][1000 genomes]
rs852541	0.83[AMR][1000 genomes]
rs852543	0.83[AMR][1000 genomes]
rs852544	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869165	chr7:4889618-5799719	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	352 gene(s)	inside rSNPs	diseases
2	nsv530979	chr7:5101631-5864814	Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	350 gene(s)	inside rSNPs	diseases
3	nsv530981	chr7:5157150-5920006	Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	348 gene(s)	inside rSNPs	diseases
4	esv1814049	chr7:5314993-5675131	Active TSS Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	333 gene(s)	inside rSNPs	diseases
5	nsv530983	chr7:5370746-6070852	Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	368 gene(s)	inside rSNPs	diseases
6	nsv916391	chr7:5417945-5889565	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	336 gene(s)	inside rSNPs	diseases
7	nsv830890	chr7:5464933-5705158	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
8	nsv533108	chr7:5488018-6316581	Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	390 gene(s)	inside rSNPs	diseases
9	nsv1025434	chr7:5537571-5705283	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	297 gene(s)	inside rSNPs	diseases
10	nsv482449	chr7:5557585-5743673	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	294 gene(s)	inside rSNPs	diseases
11	nsv1033556	chr7:5565080-6186815	Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	357 gene(s)	inside rSNPs	diseases
12	nsv538710	chr7:5565080-6186815	Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	357 gene(s)	inside rSNPs	diseases
13	nsv887415	chr7:5584934-5675305	Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
14	nsv887416	chr7:5584934-5695259	Genic enhancers Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
15	nsv530467	chr7:5617816-5815082	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
16	nsv1017612	chr7:5629728-5819144	Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
17	nsv1021989	chr7:5629728-6186815	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
18	nsv1034883	chr7:5651680-5696147	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
19	nsv887417	chr7:5667645-5760860	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:5660600-5693800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr7:5668600-5675400	Weak transcription	Hela-S3	cervix
3	chr7:5669600-5675800	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr7:5669800-5677600	Genic enhancers	Fetal Stomach	stomach
5	chr7:5670400-5675800	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr7:5671800-5675400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr7:5671800-5682800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr7:5672000-5675200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr7:5672000-5681200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr7:5672400-5675200	Enhancers	Duodenum Smooth Muscle	Duodenum
11	chr7:5672600-5675400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr7:5672600-5675400	Enhancers	Placenta	Placenta
13	chr7:5672800-5677200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr7:5672800-5677400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr7:5673000-5677200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr7:5673000-5677200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr7:5673000-5677600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr7:5673000-5677600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr7:5673000-5677800	Enhancers	H1 Cell Line	embryonic stem cell
20	chr7:5673200-5675400	Enhancers	Left Ventricle	heart
21	chr7:5673200-5675400	Enhancers	Psoas Muscle	Psoas
22	chr7:5673200-5675600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr7:5673200-5675600	Enhancers	Brain Cingulate Gyrus	brain
24	chr7:5673200-5675600	Enhancers	Fetal Brain Male	brain
25	chr7:5673200-5675600	Enhancers	Fetal Heart	heart
26	chr7:5673200-5675600	Enhancers	Sigmoid Colon	Sigmoid Colon
27	chr7:5673200-5676400	Enhancers	Fetal Brain Female	brain
28	chr7:5673200-5676600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr7:5673200-5677000	Enhancers	Ovary	ovary
30	chr7:5673200-5677200	Enhancers	iPS-15b Cell Line	embryonic stem cell
31	chr7:5673200-5677200	Enhancers	Brain Germinal Matrix	brain
32	chr7:5673200-5677200	Enhancers	Rectal Smooth Muscle	rectum
33	chr7:5673200-5677200	Enhancers	Stomach Mucosa	stomach
34	chr7:5673200-5677400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr7:5673200-5677800	Enhancers	HUVEC	blood vessel
36	chr7:5673200-5681000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr7:5673400-5675200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr7:5673400-5675600	Enhancers	Breast Myoepithelial Primary Cells	Breast
39	chr7:5673400-5677200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr7:5673400-5677800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
41	chr7:5673600-5675800	Enhancers	Liver	Liver
42	chr7:5673600-5676200	Genic enhancers	Duodenum Mucosa	Duodenum
43	chr7:5673600-5677000	Enhancers	Right Atrium	heart
44	chr7:5673800-5675400	Enhancers	Right Ventricle	heart
45	chr7:5673800-5677800	Enhancers	Pancreas	Pancrea
46	chr7:5673800-5681800	Strong transcription	Primary T cells from cord blood	blood
47	chr7:5674000-5675200	Strong transcription	NHEK	skin
48	chr7:5674000-5675800	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
49	chr7:5674000-5677400	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr7:5674000-5677400	Enhancers	Colon Smooth Muscle	Colon

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