Variant report

Variant	rs2056200
Chromosome Location	chr4:48777603-48777604
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:48768871..48771023-chr4:48775443..48777643,2	MCF-7	breast:
2	chr4:48774500..48780275-chr4:48780685..48784374,5	MCF-7	breast:
3	chr4:48772120..48774246-chr4:48777185..48779870,3	MCF-7	breast:
4	chr4:48691459..48694072-chr4:48776269..48778861,2	K562	blood:

Variant related genes	Relation type
ENSG00000075539	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10433725	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10938540	1.00[AMR][1000 genomes]
rs12650202	1.00[AMR][1000 genomes]
rs1546653	1.00[AMR][1000 genomes]
rs1949423	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2056197	1.00[AMR][1000 genomes]
rs2138868	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2354313	1.00[AMR][1000 genomes]
rs2354315	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6845398	1.00[AMR][1000 genomes]
rs7436127	1.00[AMR][1000 genomes]
rs7667909	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7690793	1.00[AMR][1000 genomes]
rs938789	0.87[AFR][1000 genomes];1.00[AMR][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	nsv1002674	chr4:48507608-49032909	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv537087	chr4:48507608-49032909	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv1010923	chr4:48575156-49083089	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv537088	chr4:48575156-49083089	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv1013762	chr4:48580484-49032909	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv537089	chr4:48580484-49032909	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS 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	16 gene(s)	inside rSNPs	diseases
7	esv1793455	chr4:48686817-48859142	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
8	nsv1010381	chr4:48701525-49309842	Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
9	nsv1003718	chr4:48771947-49083089	Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48731600-48779800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr4:48759000-48778600	Weak transcription	Fetal Stomach	stomach
3	chr4:48761000-48779800	Weak transcription	Placenta	Placenta
4	chr4:48763000-48779800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
5	chr4:48764600-48779800	Weak transcription	HSMM	muscle
6	chr4:48766600-48779800	Weak transcription	Ovary	ovary
7	chr4:48767000-48779800	Weak transcription	Fetal Muscle Trunk	muscle
8	chr4:48768000-48780800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr4:48768600-48780000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr4:48768600-48780800	Weak transcription	Gastric	stomach
11	chr4:48768800-48780000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr4:48768800-48780000	Weak transcription	Colonic Mucosa	Colon
13	chr4:48769400-48779800	Weak transcription	Pancreas	Pancrea
14	chr4:48769600-48780400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr4:48770000-48779800	Weak transcription	Esophagus	oesophagus
16	chr4:48770200-48779400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr4:48771600-48779000	Enhancers	Primary T helper cells PMA-I stimulated	--
18	chr4:48771800-48778400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr4:48772800-48780400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr4:48773000-48779800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr4:48773200-48779800	Enhancers	Primary T helper cells fromperipheralblood	blood
22	chr4:48773400-48780400	Enhancers	Primary T killer memory cells from peripheral blood	blood
23	chr4:48773800-48778200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr4:48773800-48779200	Weak transcription	Aorta	Aorta
25	chr4:48773800-48779400	Weak transcription	Hela-S3	cervix
26	chr4:48774200-48779200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr4:48774800-48778600	Enhancers	Primary hematopoietic stem cells	blood
28	chr4:48775000-48778400	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr4:48775000-48778400	Weak transcription	Rectal Smooth Muscle	rectum
30	chr4:48775200-48778200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr4:48775400-48778400	Enhancers	NHEK	skin
32	chr4:48775600-48777800	Enhancers	Left Ventricle	heart
33	chr4:48775800-48778600	Weak transcription	Duodenum Mucosa	Duodenum
34	chr4:48775800-48779000	Weak transcription	NHLF	lung
35	chr4:48776000-48778200	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr4:48776000-48778200	Weak transcription	HMEC	breast
37	chr4:48776000-48778400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr4:48776000-48778400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr4:48776000-48778400	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr4:48776000-48778600	Weak transcription	HUVEC	blood vessel
41	chr4:48776000-48779400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr4:48776000-48779800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr4:48776000-48779800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr4:48776000-48779800	Weak transcription	Fetal Muscle Leg	muscle
45	chr4:48776000-48779800	Weak transcription	Spleen	Spleen
46	chr4:48776000-48780800	Weak transcription	Lung	lung
47	chr4:48776200-48780400	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr4:48776400-48778400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr4:48776600-48778600	Weak transcription	Primary monocytes fromperipheralblood	blood
50	chr4:48776600-48779800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin

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