Variant report

Variant	rs3755983
Chromosome Location	chr4:88037792-88037793
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:88033201..88035893-chr4:88037501..88039381,2	K562	blood:
2	chr4:88011101..88013841-chr4:88036538..88039018,2	MCF-7	breast:
3	chr4:88037648..88040225-chr4:88139528..88141716,2	K562	blood:

Variant related genes	Relation type
ENSG00000145332	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10023056	0.84[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10029915	1.00[CHB][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10032710	0.83[CEU][hapmap];0.89[CHB][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs13120301	0.85[CHB][hapmap]
rs151450	0.89[ASN][1000 genomes]
rs151451	0.83[CEU][hapmap];0.94[CHB][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17012334	0.84[CEU][hapmap];0.86[EUR][1000 genomes]
rs17012512	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17605615	0.90[ASN][1000 genomes]
rs1842685	0.83[CEU][hapmap];1.00[CHB][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2035403	0.91[ASN][1000 genomes]
rs2061498	0.87[EUR][1000 genomes]
rs236676	1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs236681	0.83[CHB][hapmap]
rs3733377	0.83[CEU][hapmap];1.00[CHB][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3736668	0.90[CHB][hapmap];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3755980	1.00[CHB][hapmap];0.80[JPT][hapmap];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3755985	1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3775209	0.86[JPT][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3775211	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3775226	0.84[CHB][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3775228	0.84[CHB][hapmap]
rs55982755	0.87[EUR][1000 genomes]
rs60695258	0.91[ASN][1000 genomes]
rs66477840	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999176	chr4:87869996-88098136	Strong transcription Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv998335	chr4:87869996-88104414	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv1001017	chr4:87872160-88087003	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv537166	chr4:87872160-88087003	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
5	nsv997750	chr4:87933945-88264127	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 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	chr4:87995400-88037800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr4:88019000-88072200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr4:88021600-88037800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr4:88026200-88042200	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr4:88026400-88042400	Strong transcription	Primary B cells from peripheral blood	blood
6	chr4:88026400-88063600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr4:88026600-88042200	Strong transcription	Primary neutrophils fromperipheralblood	blood
8	chr4:88026600-88042600	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr4:88026600-88055600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr4:88029800-88041600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr4:88030000-88048800	Weak transcription	A549	lung
12	chr4:88030600-88041200	Weak transcription	HSMMtube	muscle
13	chr4:88030600-88041600	Weak transcription	NH-A	brain
14	chr4:88030600-88057600	Weak transcription	Brain Germinal Matrix	brain
15	chr4:88031200-88039800	Weak transcription	NHDF-Ad	bronchial
16	chr4:88032200-88038800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr4:88032600-88038000	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr4:88032600-88039800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr4:88032800-88038000	Strong transcription	HUES48 Cell Line	embryonic stem cell
20	chr4:88032800-88038000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
21	chr4:88032800-88038400	Strong transcription	Fetal Lung	lung
22	chr4:88032800-88038800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr4:88032800-88038800	Strong transcription	Colonic Mucosa	Colon
24	chr4:88032800-88039200	Strong transcription	Ovary	ovary
25	chr4:88032800-88039400	Strong transcription	Dnd41	blood
26	chr4:88032800-88040200	Strong transcription	GM12878-XiMat	blood
27	chr4:88032800-88040600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr4:88032800-88041400	Strong transcription	Duodenum Mucosa	Duodenum
29	chr4:88032800-88041400	Strong transcription	Fetal Intestine Large	intestine
30	chr4:88032800-88041600	Strong transcription	Rectal Mucosa Donor 29	rectum
31	chr4:88032800-88041800	Strong transcription	Primary T helper cells PMA-I stimulated	--
32	chr4:88032800-88043200	Strong transcription	Primary B cells from cord blood	blood
33	chr4:88032800-88043600	Strong transcription	Fetal Thymus	thymus
34	chr4:88032800-88059000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr4:88033000-88037800	Strong transcription	Adipose Nuclei	Adipose
36	chr4:88033000-88038000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr4:88033000-88039200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr4:88033000-88040600	Strong transcription	Primary T helper cells fromperipheralblood	blood
39	chr4:88033000-88042800	Strong transcription	Primary T cells fromperipheralblood	blood
40	chr4:88033200-88037800	Strong transcription	HUES6 Cell Line	embryonic stem cell
41	chr4:88033200-88040600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr4:88033200-88041800	Strong transcription	Thymus	Thymus
43	chr4:88033600-88041400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr4:88033600-88042200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr4:88033600-88047600	Weak transcription	HSMM	muscle
46	chr4:88033800-88039600	Strong transcription	K562	blood
47	chr4:88034200-88038000	Strong transcription	Lung	lung
48	chr4:88034200-88039000	Strong transcription	Fetal Stomach	stomach
49	chr4:88034200-88040200	Strong transcription	Spleen	Spleen
50	chr4:88034200-88041200	Strong transcription	Fetal Intestine Small	intestine

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