Variant report

Variant	rs4714033
Chromosome Location	chr6:37019965-37019966
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:37019030..37019973-chr6:37175557..37176474,5	MCF-7	breast:
2	chr6:37013215..37030579-chr6:37135643..37146812,60	K562	blood:
3	chr6:37015361..37021664-chr6:37022049..37027809,14	K562	blood:
4	chr6:37013215..37030665-chr6:37134901..37148307,66	K562	blood:
5	chr6:37017164..37020087-chr6:37281669..37283613,2	K562	blood:
6	chr6:37018926..37020185-chr6:37137216..37139118,7	K562	blood:
7	chr6:37014868..37029815-chr6:37135131..37143827,44	MCF-7	breast:
8	chr6:36993956..36998841-chr6:37016055..37021281,5	K562	blood:
9	chr6:37018873..37020084-chr6:37139552..37140842,17	MCF-7	breast:
10	chr6:37016328..37032410-chr6:37132402..37145966,91	MCF-7	breast:
11	chr6:36840111..36842444-chr6:37018601..37020201,2	MCF-7	breast:
12	chr6:37018452..37020130-chr6:37071233..37072925,2	K562	blood:
13	chr6:37004960..37006542-chr6:37018559..37021481,2	K562	blood:
14	chr6:37019826..37021795-chr6:37024868..37026778,2	MCF-7	breast:
15	chr6:37018930..37019983-chr6:37139473..37140598,15	K562	blood:
16	chr6:36993138..36995327-chr6:37018553..37020815,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000137193	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10947654	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10947655	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1224492	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1224493	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1724092	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1724093	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1753297	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1753299	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2692878	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2692879	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6457968	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6457969	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6457970	0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6917839	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6922840	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6940573	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6940597	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7751883	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7752115	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs831482	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs831483	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs831485	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs831486	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs831488	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs831490	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs831508	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs864396	0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs864590	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs913502	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9357233	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9380636	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9394399	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9765964	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030015	chr6:36818510-37104446	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription 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	41 gene(s)	inside rSNPs	diseases
2	nsv916833	chr6:36826524-37029833	Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
3	nsv518386	chr6:36942746-37037670	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS 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	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:37013800-37020000	Enhancers	Pancreas	Pancrea
2	chr6:37013800-37020200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
3	chr6:37013800-37020400	Enhancers	Fetal Thymus	thymus
4	chr6:37014800-37020000	Enhancers	Primary hematopoietic stem cells	blood
5	chr6:37015200-37020400	Enhancers	Fetal Muscle Leg	muscle
6	chr6:37015800-37020200	Enhancers	Spleen	Spleen
7	chr6:37016000-37020200	Flanking Active TSS	K562	blood
8	chr6:37016000-37020400	Enhancers	Placenta	Placenta
9	chr6:37017000-37020000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
10	chr6:37017200-37027200	Weak transcription	NH-A	brain
11	chr6:37017800-37020000	Enhancers	Thymus	Thymus
12	chr6:37018200-37020200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr6:37018200-37021400	Enhancers	Fetal Intestine Small	intestine
14	chr6:37018400-37020000	Enhancers	Fetal Heart	heart
15	chr6:37018400-37020200	Enhancers	Esophagus	oesophagus
16	chr6:37018400-37020200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
17	chr6:37018400-37020400	Enhancers	Liver	Liver
18	chr6:37018400-37020400	Enhancers	Right Ventricle	heart
19	chr6:37018600-37020200	Enhancers	Adipose Nuclei	Adipose
20	chr6:37018600-37020200	Enhancers	Colon Smooth Muscle	Colon
21	chr6:37018600-37020400	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr6:37018600-37020400	Enhancers	Primary B cells from peripheral blood	blood
23	chr6:37018600-37020400	Enhancers	Primary T cells fromperipheralblood	blood
24	chr6:37018600-37020400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr6:37018600-37020400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr6:37018800-37020000	Enhancers	Breast Myoepithelial Primary Cells	Breast
27	chr6:37018800-37020000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr6:37018800-37020000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
29	chr6:37018800-37020000	Enhancers	Brain Hippocampus Middle	brain
30	chr6:37018800-37020000	Enhancers	Sigmoid Colon	Sigmoid Colon
31	chr6:37018800-37020400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr6:37018800-37020400	Flanking Active TSS	HepG2	liver
33	chr6:37019000-37020000	Bivalent Enhancer	Stomach Mucosa	stomach
34	chr6:37019000-37020200	Enhancers	Primary T helper cells fromperipheralblood	blood
35	chr6:37019000-37020200	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr6:37019000-37020400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr6:37019000-37020400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr6:37019000-37020600	Enhancers	Fetal Stomach	stomach
39	chr6:37019000-37020800	Enhancers	Fetal Intestine Large	intestine
40	chr6:37019200-37020000	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr6:37019200-37020000	Enhancers	Primary T killer memory cells from peripheral blood	blood
42	chr6:37019200-37020200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
43	chr6:37019200-37020200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr6:37019200-37020200	Enhancers	Primary T cells from cord blood	blood
45	chr6:37019200-37020400	Enhancers	H1 Cell Line	embryonic stem cell
46	chr6:37019200-37020400	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr6:37019200-37020400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr6:37019200-37020400	Enhancers	Primary B cells from cord blood	blood
49	chr6:37019200-37020400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr6:37019400-37020000	Enhancers	Primary T helper naive cells from peripheral blood	blood

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