Variant report

Variant	rs73985216
Chromosome Location	chr17:37912121-37912122
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:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:37892523..37898235-chr17:37904182..37913977,22	MCF-7	breast:
2	chr17:37909990..37912890-chr17:37955777..37957738,2	MCF-7	breast:
3	chr17:37771753..37773281-chr17:37910069..37912599,2	K562	blood:
4	chr17:37858985..37861053-chr17:37910558..37912963,2	MCF-7	breast:
5	chr17:37910764..37912781-chr17:37948421..37950091,2	MCF-7	breast:
6	chr17:37885072..37889612-chr17:37908286..37912584,6	MCF-7	breast:
7	chr17:37909095..37912398-chr17:37915882..37918594,4	MCF-7	breast:
8	chr17:37875233..37878023-chr17:37910337..37912992,2	MCF-7	breast:
9	chr17:37907336..37908918-chr17:37910848..37912777,2	MCF-7	breast:
10	chr17:37909648..37912266-chr17:38136324..38138333,2	K562	blood:
11	chr17:37909648..37914905-chr17:37919305..37927863,11	MCF-7	breast:
12	chr17:37774213..37778029-chr17:37909285..37912435,4	K562	blood:
13	chr17:37908791..37912830-chr17:37925750..37930091,5	K562	blood:
14	chr17:37789315..37792571-chr17:37910228..37913282,4	K562	blood:
15	chr17:37903978..37906952-chr17:37910372..37912419,2	K562	blood:
16	chr17:37912031..37913626-chr17:37916861..37918993,2	MCF-7	breast:
17	chr17:37673655..37675893-chr17:37909404..37912318,2	K562	blood:
18	chr17:37892158..37901988-chr17:37904094..37913282,26	MCF-7	breast:
19	chr17:37790735..37794088-chr17:37909085..37913282,4	K562	blood:
20	chr17:37909376..37912567-chr17:37922952..37926689,4	MCF-7	breast:
21	chr17:37909855..37912536-chr17:38125394..38127110,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000214546	Chromatin interaction
ENSG00000141738	Chromatin interaction
ENSG00000108344	Chromatin interaction
ENSG00000264198	Chromatin interaction
ENSG00000141736	Chromatin interaction
ENSG00000131748	Chromatin interaction
ENSG00000141741	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs12942343	1.00[EUR][1000 genomes]
rs12947955	1.00[EUR][1000 genomes]
rs1453558	0.85[AMR][1000 genomes]
rs16965388	1.00[AMR][1000 genomes]
rs1810131	1.00[EUR][1000 genomes]
rs2016793	1.00[EUR][1000 genomes]
rs73985213	1.00[EUR][1000 genomes]
rs73985214	1.00[EUR][1000 genomes]
rs73985215	1.00[EUR][1000 genomes]
rs73985217	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73985219	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73985226	1.00[AMR][1000 genomes]
rs73985227	0.85[AMR][1000 genomes]
rs73985230	1.00[AMR][1000 genomes]
rs9652839	1.00[EUR][1000 genomes]
rs9674624	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv908207	chr17:37709422-37922259	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv908219	chr17:37880265-37917633	Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
3	nsv1064787	chr17:37892843-38054410	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
4	nsv543342	chr17:37892843-38054410	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:37909400-37912600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr17:37909800-37912200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
3	chr17:37910800-37912400	Flanking Active TSS	Fetal Thymus	thymus
4	chr17:37910800-37912800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
5	chr17:37910800-37913000	Flanking Active TSS	Primary B cells from peripheral blood	blood
6	chr17:37911000-37912200	Flanking Active TSS	Primary T cells from cord blood	blood
7	chr17:37911000-37912200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr17:37911000-37912200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
9	chr17:37911000-37912200	Enhancers	Fetal Heart	heart
10	chr17:37911000-37912200	Flanking Bivalent TSS/Enh	HepG2	liver
11	chr17:37911000-37912400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
12	chr17:37911000-37912400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
13	chr17:37911000-37912800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
14	chr17:37911200-37912200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
15	chr17:37911200-37912400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
16	chr17:37911200-37912800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr17:37911200-37912800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
18	chr17:37911200-37912800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
19	chr17:37911200-37912800	Enhancers	Fetal Lung	lung
20	chr17:37911200-37912800	Flanking Active TSS	Thymus	Thymus
21	chr17:37911200-37913200	Flanking Active TSS	GM12878-XiMat	blood
22	chr17:37911200-37914000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr17:37911200-37914600	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr17:37911200-37914800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr17:37911200-37915000	Enhancers	Primary hematopoietic stem cells	blood
26	chr17:37911400-37912400	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr17:37911400-37912400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr17:37911400-37912400	Active TSS	Colonic Mucosa	Colon
29	chr17:37911400-37912800	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr17:37911400-37912800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
31	chr17:37911400-37913000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr17:37911400-37913800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr17:37911600-37912200	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr17:37911600-37912200	Enhancers	Colon Smooth Muscle	Colon
35	chr17:37911600-37912200	Enhancers	Placenta	Placenta
36	chr17:37911600-37912400	Bivalent Enhancer	Fetal Muscle Leg	muscle
37	chr17:37911600-37912400	Bivalent Enhancer	Fetal Stomach	stomach
38	chr17:37911600-37912400	Enhancers	Monocytes-CD14+_RO01746	blood
39	chr17:37911600-37912600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
40	chr17:37911600-37912800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr17:37911600-37913000	Enhancers	H1 Cell Line	embryonic stem cell
42	chr17:37911600-37913000	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
43	chr17:37911600-37913000	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
44	chr17:37911600-37915200	Enhancers	Rectal Mucosa Donor 31	rectum
45	chr17:37911600-37915800	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr17:37911800-37912200	Enhancers	Lung	lung
47	chr17:37911800-37912200	Enhancers	Placenta Amnion	Placenta Amnion
48	chr17:37911800-37912200	Enhancers	Stomach Smooth Muscle	stomach
49	chr17:37911800-37912400	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
50	chr17:37911800-37913200	Flanking Active TSS	Primary B cells from cord blood	blood

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