Variant report

Variant	rs73730519
Chromosome Location	chr6:37017323-37017324
allele	A/G
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:37013215..37030579-chr6:37135643..37146812,60	K562	blood:
2	chr6:37015361..37021664-chr6:37022049..37027809,14	K562	blood:
3	chr6:37016691..37019339-chr6:37186653..37188538,2	K562	blood:
4	chr6:36853734..36855339-chr6:37016724..37019565,3	K562	blood:
5	chr6:37005917..37007754-chr6:37015000..37017785,2	K562	blood:
6	chr6:37013215..37030665-chr6:37134901..37148307,66	K562	blood:
7	chr6:37017164..37020087-chr6:37281669..37283613,2	K562	blood:
8	chr6:37014868..37029815-chr6:37135131..37143827,44	MCF-7	breast:
9	chr6:36996688..36999703-chr6:37014680..37019381,6	K562	blood:
10	chr6:36993956..36998841-chr6:37016055..37021281,5	K562	blood:
11	chr6:37016361..37018165-chr6:37077511..37079203,2	K562	blood:
12	chr6:37016328..37032410-chr6:37132402..37145966,91	MCF-7	breast:
13	chr6:37015294..37018707-chr6:37173927..37177925,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000137193	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs73730515	0.87[AFR][1000 genomes]
rs73730516	0.87[AFR][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:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:36993800-37018200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr6:37013800-37017600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
3	chr6:37013800-37017600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr6:37013800-37017600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr6:37013800-37017800	Enhancers	Primary T cells from cord blood	blood
6	chr6:37013800-37020000	Enhancers	Pancreas	Pancrea
7	chr6:37013800-37020200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr6:37013800-37020400	Enhancers	Fetal Thymus	thymus
9	chr6:37014800-37020000	Enhancers	Primary hematopoietic stem cells	blood
10	chr6:37015000-37017800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
11	chr6:37015200-37017600	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr6:37015200-37017800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr6:37015200-37020400	Enhancers	Fetal Muscle Leg	muscle
14	chr6:37015400-37018200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr6:37015600-37017400	Enhancers	Thymus	Thymus
16	chr6:37015800-37017400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr6:37015800-37017400	Enhancers	Hela-S3	cervix
18	chr6:37015800-37018400	Enhancers	Fetal Muscle Trunk	muscle
19	chr6:37015800-37020200	Enhancers	Spleen	Spleen
20	chr6:37016000-37017400	Enhancers	Small Intestine	intestine
21	chr6:37016000-37017400	Enhancers	NHEK	skin
22	chr6:37016000-37018600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr6:37016000-37020200	Flanking Active TSS	K562	blood
24	chr6:37016000-37020400	Enhancers	Placenta	Placenta
25	chr6:37016200-37017400	Enhancers	Placenta Amnion	Placenta Amnion
26	chr6:37016200-37017400	Enhancers	HMEC	breast
27	chr6:37016200-37018200	Enhancers	Adipose Nuclei	Adipose
28	chr6:37016200-37018200	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr6:37016400-37018600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr6:37016400-37019600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
31	chr6:37016600-37018200	Bivalent Enhancer	HepG2	liver
32	chr6:37016600-37018600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
33	chr6:37016600-37018800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
34	chr6:37016600-37019400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr6:37016800-37017400	Enhancers	Esophagus	oesophagus
36	chr6:37016800-37017400	Enhancers	Right Atrium	heart
37	chr6:37016800-37017800	Enhancers	Rectal Mucosa Donor 29	rectum
38	chr6:37016800-37018600	Flanking Active TSS	Primary B cells from cord blood	blood
39	chr6:37016800-37018600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
40	chr6:37016800-37018600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
41	chr6:37016800-37019200	Enhancers	Colonic Mucosa	Colon
42	chr6:37016800-37019200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
43	chr6:37016800-37019400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
44	chr6:37016800-37019800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
45	chr6:37016800-37019800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr6:37016800-37019800	Flanking Active TSS	Dnd41	blood
47	chr6:37017000-37017600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr6:37017000-37018200	Weak transcription	Fetal Intestine Small	intestine
49	chr6:37017000-37018400	Weak transcription	Duodenum Smooth Muscle	Duodenum
50	chr6:37017000-37018800	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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