Variant report

Variant	rs9965936
Chromosome Location	chr18:12951076-12951077
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:12949844..12951460-chr18:12965641..12968240,2	K562	blood:
2	chr18:12948345..12951130-chr18:12969418..12973863,3	K562	blood:
3	chr18:12726304..12729223-chr18:12948825..12951791,2	K562	blood:
4	chr18:12944429..12952802-chr18:12987284..12998193,21	K562	blood:
5	chr18:12706059..12708008-chr18:12949881..12951466,2	K562	blood:
6	chr18:12950305..12952653-chr18:12960461..12963058,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000101639	Chromatin interaction
ENSG00000085415	Chromatin interaction
ENSG00000266969	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs10468685	1.00[EUR][1000 genomes]
rs13381820	1.00[EUR][1000 genomes]
rs1613375	1.00[EUR][1000 genomes]
rs1628961	1.00[EUR][1000 genomes]
rs16939851	1.00[EUR][1000 genomes]
rs16939913	1.00[EUR][1000 genomes]
rs1786993	1.00[EUR][1000 genomes]
rs28436108	1.00[EUR][1000 genomes]
rs2847263	1.00[EUR][1000 genomes]
rs2847264	1.00[EUR][1000 genomes]
rs28579212	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs478502	1.00[EUR][1000 genomes]
rs482642	1.00[EUR][1000 genomes]
rs486976	1.00[EUR][1000 genomes]
rs506877	1.00[EUR][1000 genomes]
rs533010	1.00[EUR][1000 genomes]
rs543201	1.00[EUR][1000 genomes]
rs547479	1.00[EUR][1000 genomes]
rs575250	1.00[EUR][1000 genomes]
rs57580816	1.00[EUR][1000 genomes]
rs58839955	1.00[EUR][1000 genomes]
rs59434054	1.00[EUR][1000 genomes]
rs61320647	1.00[EUR][1000 genomes]
rs7229440	1.00[EUR][1000 genomes]
rs7236539	1.00[EUR][1000 genomes]
rs7240157	1.00[EUR][1000 genomes]
rs73407719	1.00[EUR][1000 genomes]
rs73407722	1.00[EUR][1000 genomes]
rs73407750	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73407763	1.00[EUR][1000 genomes]
rs73407884	1.00[EUR][1000 genomes]
rs73416976	1.00[EUR][1000 genomes]
rs73419110	1.00[EUR][1000 genomes]
rs73419545	1.00[EUR][1000 genomes]
rs8083404	1.00[EUR][1000 genomes]
rs8099254	1.00[EUR][1000 genomes]
rs908577	1.00[EUR][1000 genomes]
rs9946422	1.00[EUR][1000 genomes]
rs9949863	0.85[AFR][1000 genomes]
rs9953795	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9958518	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9960379	0.85[AFR][1000 genomes]
rs9964950	1.00[EUR][1000 genomes]
rs9966740	1.00[EUR][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	nsv1062014	chr18:12687210-13183383	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
2	nsv543655	chr18:12687210-13183383	Flanking Bivalent TSS/Enh Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
3	nsv1064844	chr18:12748045-12953235	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	68 gene(s)	inside rSNPs	diseases
4	nsv543656	chr18:12748045-12953235	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	68 gene(s)	inside rSNPs	diseases
5	nsv1057083	chr18:12916779-13207538	Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
6	nsv576524	chr18:12918318-13183609	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
7	nsv1056593	chr18:12926314-13183383	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
8	nsv1064364	chr18:12926314-13207686	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
9	esv3450694	chr18:12933001-12955144	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12948800-12951200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr18:12948800-12951600	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr18:12948800-12951800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr18:12948800-12953400	Weak transcription	HUVEC	blood vessel
5	chr18:12948800-12954400	Weak transcription	NHDF-Ad	bronchial
6	chr18:12948800-12957600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr18:12948800-12958200	Weak transcription	Primary hematopoietic stem cells	blood
8	chr18:12948800-12958200	Weak transcription	Left Ventricle	heart
9	chr18:12948800-12958400	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr18:12948800-12958400	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr18:12948800-12963200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr18:12948800-12963200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr18:12948800-12963200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr18:12948800-12963200	Weak transcription	Colon Smooth Muscle	Colon
15	chr18:12948800-12963600	Weak transcription	Esophagus	oesophagus
16	chr18:12948800-12971000	Weak transcription	Ovary	ovary
17	chr18:12948800-12971600	Weak transcription	Pancreas	Pancrea
18	chr18:12948800-12976600	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr18:12948800-12989000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr18:12949000-12951200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr18:12949000-12952400	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr18:12949000-12952400	Weak transcription	Fetal Muscle Trunk	muscle
23	chr18:12949000-12952600	Enhancers	Primary T cells fromperipheralblood	blood
24	chr18:12949000-12953000	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr18:12949000-12953000	Weak transcription	Duodenum Mucosa	Duodenum
26	chr18:12949000-12953200	Weak transcription	NH-A	brain
27	chr18:12949000-12953800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr18:12949000-12954600	Weak transcription	HSMMtube	muscle
29	chr18:12949000-12957400	Weak transcription	Fetal Lung	lung
30	chr18:12949000-12957400	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr18:12949000-12957600	Weak transcription	Brain Angular Gyrus	brain
32	chr18:12949000-12957600	Weak transcription	Fetal Kidney	kidney
33	chr18:12949000-12963200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr18:12949000-12963200	Weak transcription	NHLF	lung
35	chr18:12949000-12971600	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr18:12949000-12975400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr18:12949200-12951400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr18:12949200-12951600	Enhancers	Lung	lung
39	chr18:12949200-12951800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr18:12949200-12952200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr18:12949200-12953200	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr18:12949200-12954200	Weak transcription	Rectal Mucosa Donor 29	rectum
43	chr18:12949200-12954800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr18:12949200-12957200	Weak transcription	Adipose Nuclei	Adipose
45	chr18:12949200-12957200	Weak transcription	Brain Germinal Matrix	brain
46	chr18:12949200-12957400	Weak transcription	Stomach Smooth Muscle	stomach
47	chr18:12949200-12957600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr18:12949200-12958200	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr18:12949200-12958200	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr18:12949200-12960800	Weak transcription	Fetal Heart	heart

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