Variant report

Variant	rs8000928
Chromosome Location	chr13:92011270-92011271
allele	A/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:56)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:56 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr13:92011140..92013314-chr13:92167683..92169572,2	K562	blood:
2	chr13:92007619..92012079-chr13:92329462..92332464,5	K562	blood:
3	chr13:92010635..92015807-chr13:92018550..92023163,4	MCF-7	breast:
4	chr13:81121825..81124571-chr13:92009979..92011924,2	K562	blood:
5	chr13:92010540..92013547-chr13:92187635..92190322,4	K562	blood:
6	chr13:91919276..91922212-chr13:92009101..92012516,4	K562	blood:
7	chr13:92009670..92013881-chr13:92375334..92379387,4	K562	blood:
8	chr13:91926747..91928257-chr13:92010434..92012597,2	K562	blood:
9	chr11:27882879..27884379-chr13:92010659..92012252,2	K562	blood:
10	chr13:91795824..91797926-chr13:92010509..92012771,2	K562	blood:
11	chr13:92010191..92014540-chr13:92229897..92231842,4	K562	blood:
12	chr13:91828167..91832824-chr13:92009386..92012550,6	K562	blood:
13	chr13:92008919..92012229-chr13:92298232..92301726,3	K562	blood:
14	chr13:92009651..92011564-chr13:92135642..92137218,2	K562	blood:
15	chr13:92010990..92013754-chr13:92321109..92322793,2	K562	blood:
16	chr13:92009199..92012102-chr13:108655339..108657320,2	K562	blood:
17	chr13:91751114..91752648-chr13:92010500..92012399,2	K562	blood:
18	chr13:92006350..92012037-chr13:92182700..92187101,6	K562	blood:
19	chr13:91785773..91787520-chr13:92009738..92011792,2	K562	blood:
20	chr13:92010436..92012496-chr13:92953050..92954701,2	K562	blood:
21	chr13:91830095..91832824-chr13:92009386..92012550,3	K562	blood:
22	chr13:92010929..92013926-chr13:92211896..92214067,2	K562	blood:
23	chr13:92008998..92011983-chr13:92367729..92370311,3	K562	blood:
24	chr13:92007575..92011337-chr13:92428230..92431057,3	K562	blood:
25	chr13:92009349..92012461-chr13:92224404..92227397,3	K562	blood:
26	chr13:92009180..92011434-chr13:92452798..92454691,2	K562	blood:
27	chr13:91907805..91909994-chr13:92010995..92013406,3	K562	blood:
28	chr13:92008212..92012126-chr13:92101857..92105185,4	K562	blood:
29	chr13:92010067..92012640-chr9:133779649..133782513,2	K562	blood:
30	chr13:92009525..92012032-chr13:92219135..92221631,2	K562	blood:
31	chr13:91737954..91740404-chr13:92008929..92011702,2	K562	blood:
32	chr13:92009508..92013495-chr13:92125822..92129742,3	K562	blood:
33	chr13:91999461..92007353-chr13:92008154..92015149,15	MCF-7	breast:
34	chr13:91852326..91855280-chr13:92009520..92011626,2	K562	blood:
35	chr13:92010600..92013246-chr13:92212301..92213807,2	K562	blood:
36	chr13:91796426..91798959-chr13:92009042..92012009,2	K562	blood:
37	chr13:92009446..92011873-chr13:92285779..92287489,2	K562	blood:
38	chr13:91692018..91694558-chr13:92011037..92013238,2	K562	blood:
39	chr13:92010398..92013351-chr13:108550982..108553660,2	K562	blood:
40	chr13:92009151..92011579-chr9:134051171..134054051,2	K562	blood:
41	chr13:92010904..92013459-chr13:92248662..92250979,3	K562	blood:
42	chr13:92009784..92014607-chr13:92111183..92117003,5	K562	blood:
43	chr13:91822565..91824120-chr13:92010009..92011711,2	K562	blood:
44	chr13:92008301..92012941-chr13:92190227..92194060,8	K562	blood:
45	chr13:92009908..92012117-chr2:43452729..43454781,2	K562	blood:
46	chr13:92010706..92013622-chr13:93006752..93008493,2	K562	blood:
47	chr13:91874317..91877708-chr13:92010260..92012794,3	K562	blood:
48	chr13:92010873..92012565-chr13:92225020..92227817,2	K562	blood:
49	chr13:92009872..92012320-chr6:32936355..32939285,2	K562	blood:
50	chr13:92008545..92011315-chr13:92356564..92359344,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000204257	Chromatin interaction
ENSG00000152518	Chromatin interaction
ENSG00000204256	Chromatin interaction
ENSG00000215417	Chromatin interaction
ENSG00000223837	Chromatin interaction
ENSG00000179399	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs1428	0.83[CEU][hapmap]
rs2351704	0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7318578	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7995597	0.86[AFR][1000 genomes];0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042947	chr13:91571040-92416897	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1946 gene(s)	inside rSNPs	diseases
2	nsv541871	chr13:91571040-92416897	Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1946 gene(s)	inside rSNPs	diseases
3	esv1803618	chr13:91669587-92277699	Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1945 gene(s)	inside rSNPs	diseases
4	nsv1050259	chr13:91759549-92152078	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1944 gene(s)	inside rSNPs	diseases
5	nsv541872	chr13:91759549-92152078	Enhancers Strong transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1944 gene(s)	inside rSNPs	diseases
6	nsv832679	chr13:91859467-92030220	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1943 gene(s)	inside rSNPs	diseases
7	esv1802171	chr13:91999737-92015977	Active TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	1940 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:92001600-92012200	Weak transcription	Esophagus	oesophagus
2	chr13:92001800-92015600	Weak transcription	Ovary	ovary
3	chr13:92001800-92027200	Weak transcription	Aorta	Aorta
4	chr13:92002000-92012200	Weak transcription	Rectal Smooth Muscle	rectum
5	chr13:92002400-92012000	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr13:92003400-92014000	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr13:92003600-92011800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr13:92003600-92012000	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr13:92003600-92012600	Weak transcription	Brain Substantia Nigra	brain
10	chr13:92003600-92012800	Weak transcription	Small Intestine	intestine
11	chr13:92003600-92016600	Weak transcription	Gastric	stomach
12	chr13:92003600-92021200	Weak transcription	Right Ventricle	heart
13	chr13:92003600-92033200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr13:92003800-92011800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr13:92003800-92012200	Strong transcription	Fetal Thymus	thymus
16	chr13:92003800-92012200	Weak transcription	Stomach Smooth Muscle	stomach
17	chr13:92003800-92012600	Weak transcription	Brain Hippocampus Middle	brain
18	chr13:92004600-92012200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr13:92004600-92021200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr13:92006600-92013400	Weak transcription	NHDF-Ad	bronchial
21	chr13:92007400-92011800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr13:92007600-92012200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr13:92007800-92012200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr13:92007800-92015200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr13:92008000-92011600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr13:92008400-92011400	Weak transcription	Placenta	Placenta
27	chr13:92008400-92011800	Weak transcription	Primary T helper cells fromperipheralblood	blood
28	chr13:92008400-92014600	Weak transcription	Hela-S3	cervix
29	chr13:92008600-92011400	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr13:92008600-92014000	Weak transcription	Fetal Intestine Large	intestine
31	chr13:92008800-92011400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr13:92008800-92012000	Genic enhancers	K562	blood
33	chr13:92008800-92013800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr13:92008800-92021000	Weak transcription	Osteobl	bone
35	chr13:92008800-92021400	Weak transcription	NHLF	lung
36	chr13:92009200-92011800	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr13:92009200-92016200	Enhancers	Liver	Liver
38	chr13:92009400-92011400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr13:92009400-92014000	Weak transcription	Fetal Lung	lung
40	chr13:92009400-92014000	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr13:92009400-92020000	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr13:92009400-92020800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr13:92009600-92021200	Weak transcription	HSMMtube	muscle
44	chr13:92009600-92022200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr13:92009800-92011400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr13:92009800-92011400	Weak transcription	Primary monocytes fromperipheralblood	blood
47	chr13:92009800-92011400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr13:92009800-92012400	Weak transcription	Adipose Nuclei	Adipose
49	chr13:92009800-92012400	Weak transcription	Dnd41	blood
50	chr13:92009800-92014800	Weak transcription	Left Ventricle	heart

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