Variant report

Variant	rs9589209
Chromosome Location	chr13:92012369-92012370
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:43)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:43 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:92011140..92013314-chr13:92167683..92169572,2	K562	blood:
2	chr13:92010635..92015807-chr13:92018550..92023163,4	MCF-7	breast:
3	chr13:92010540..92013547-chr13:92187635..92190322,4	K562	blood:
4	chr13:91919276..91922212-chr13:92009101..92012516,4	K562	blood:
5	chr13:92009670..92013881-chr13:92375334..92379387,4	K562	blood:
6	chr13:91926747..91928257-chr13:92010434..92012597,2	K562	blood:
7	chr13:90803949..90805680-chr13:92011552..92014384,2	K562	blood:
8	chr13:91795824..91797926-chr13:92010509..92012771,2	K562	blood:
9	chr13:92010191..92014540-chr13:92229897..92231842,4	K562	blood:
10	chr13:91828167..91832824-chr13:92009386..92012550,6	K562	blood:
11	chr13:92011718..92012713-chr6:26056548..26057086,2	Hela-S3	cervix:
12	chr13:92010990..92013754-chr13:92321109..92322793,2	K562	blood:
13	chr13:91751114..91752648-chr13:92010500..92012399,2	K562	blood:
14	chr13:92010436..92012496-chr13:92953050..92954701,2	K562	blood:
15	chr13:91830095..91832824-chr13:92009386..92012550,3	K562	blood:
16	chr13:92011668..92014264-chr13:92248791..92250619,2	K562	blood:
17	chr13:92010929..92013926-chr13:92211896..92214067,2	K562	blood:
18	chr13:92009349..92012461-chr13:92224404..92227397,3	K562	blood:
19	chr13:91889138..91891419-chr13:92011620..92013937,2	K562	blood:
20	chr13:91907805..91909994-chr13:92010995..92013406,3	K562	blood:
21	chr13:92011581..92014280-chr13:92377653..92379925,3	K562	blood:
22	chr13:92010067..92012640-chr9:133779649..133782513,2	K562	blood:
23	chr13:92009508..92013495-chr13:92125822..92129742,3	K562	blood:
24	chr13:91999461..92007353-chr13:92008154..92015149,15	MCF-7	breast:
25	chr13:92011474..92015304-chr13:92379938..92384751,4	K562	blood:
26	chr13:92011441..92013095-chr13:92360368..92362674,2	K562	blood:
27	chr13:92007380..92009324-chr13:92011441..92013491,2	MCF-7	breast:
28	chr13:92010600..92013246-chr13:92212301..92213807,2	K562	blood:
29	chr13:91692018..91694558-chr13:92011037..92013238,2	K562	blood:
30	chr13:92010398..92013351-chr13:108550982..108553660,2	K562	blood:
31	chr13:92010904..92013459-chr13:92248662..92250979,3	K562	blood:
32	chr13:92009784..92014607-chr13:92111183..92117003,5	K562	blood:
33	chr13:92012175..92013793-chr4:83348518..83351402,2	K562	blood:
34	chr13:91461776..91463287-chr13:92011640..92013269,2	K562	blood:
35	chr13:92008301..92012941-chr13:92190227..92194060,8	K562	blood:
36	chr13:92010706..92013622-chr13:93006752..93008493,2	K562	blood:
37	chr13:91874317..91877708-chr13:92010260..92012794,3	K562	blood:
38	chr13:91785529..91788379-chr13:92011883..92013618,2	K562	blood:
39	chr13:92011474..92014177-chr13:92380431..92383913,3	K562	blood:
40	chr13:92010873..92012565-chr13:92225020..92227817,2	K562	blood:
41	chr13:92010104..92012941-chr13:92190804..92193733,4	K562	blood:
42	chr13:92010929..92013053-chr13:108557396..108559421,2	K562	blood:
43	chr13:92007619..92013984-chr13:92329606..92334220,7	K562	blood:

No data

Variant related genes	Relation type
ENSG00000152795	Chromatin interaction
ENSG00000215417	Chromatin interaction
ENSG00000187837	Chromatin interaction
ENSG00000179399	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs16945770	0.85[ASN][1000 genomes]
rs16945837	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3843686	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72640328	0.96[ASN][1000 genomes]
rs72640332	0.96[ASN][1000 genomes]
rs72640334	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72640338	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72640339	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72640346	0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7981996	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7986207	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7989515	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7995682	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs8002923	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9583918	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9589195	0.85[ASN][1000 genomes]
rs9589202	0.96[ASN][1000 genomes]
rs9589203	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs9589210	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9589211	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:92001800-92015600	Weak transcription	Ovary	ovary
2	chr13:92001800-92027200	Weak transcription	Aorta	Aorta
3	chr13:92003400-92014000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr13:92003600-92012600	Weak transcription	Brain Substantia Nigra	brain
5	chr13:92003600-92012800	Weak transcription	Small Intestine	intestine
6	chr13:92003600-92016600	Weak transcription	Gastric	stomach
7	chr13:92003600-92021200	Weak transcription	Right Ventricle	heart
8	chr13:92003600-92033200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr13:92003800-92012600	Weak transcription	Brain Hippocampus Middle	brain
10	chr13:92004600-92021200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr13:92006600-92013400	Weak transcription	NHDF-Ad	bronchial
12	chr13:92007800-92015200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr13:92008400-92014600	Weak transcription	Hela-S3	cervix
14	chr13:92008600-92014000	Weak transcription	Fetal Intestine Large	intestine
15	chr13:92008800-92013800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr13:92008800-92021000	Weak transcription	Osteobl	bone
17	chr13:92008800-92021400	Weak transcription	NHLF	lung
18	chr13:92009200-92016200	Enhancers	Liver	Liver
19	chr13:92009400-92014000	Weak transcription	Fetal Lung	lung
20	chr13:92009400-92014000	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr13:92009400-92020000	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr13:92009400-92020800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr13:92009600-92021200	Weak transcription	HSMMtube	muscle
24	chr13:92009600-92022200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr13:92009800-92012400	Weak transcription	Adipose Nuclei	Adipose
26	chr13:92009800-92012400	Weak transcription	Dnd41	blood
27	chr13:92009800-92014800	Weak transcription	Left Ventricle	heart
28	chr13:92009800-92021200	Weak transcription	Muscle Satellite Cultured Cells	--
29	chr13:92009800-92021200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr13:92010000-92012600	Weak transcription	Duodenum Mucosa	Duodenum
31	chr13:92010000-92012800	Weak transcription	NHEK	skin
32	chr13:92010000-92013800	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr13:92010000-92014400	Weak transcription	Brain Germinal Matrix	brain
34	chr13:92010000-92014800	Enhancers	HepG2	liver
35	chr13:92010000-92021000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr13:92010000-92021000	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr13:92010200-92012400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
38	chr13:92010200-92021200	Weak transcription	NH-A	brain
39	chr13:92010200-92021600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr13:92010400-92013800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr13:92010400-92021400	Weak transcription	HMEC	breast
42	chr13:92010600-92012400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr13:92010600-92021200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr13:92010800-92012400	Weak transcription	Fetal Muscle Trunk	muscle
45	chr13:92010800-92012600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr13:92010800-92015200	Weak transcription	Fetal Intestine Small	intestine
47	chr13:92010800-92020800	Weak transcription	HSMM	muscle
48	chr13:92010800-92021000	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr13:92010800-92021000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr13:92010800-92021200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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