Variant report

Variant	rs12583555
Chromosome Location	chr13:92007812-92007813
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:65)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:65 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr13:92007619..92012079-chr13:92329462..92332464,5	K562	blood:
2	chr13:92007639..92009819-chr13:92131676..92134611,2	K562	blood:
3	chr13:91921057..91924043-chr13:92006165..92008543,2	K562	blood:
4	chr13:92007380..92009324-chr13:92011441..92013491,2	MCF-7	breast:
5	chr13:92007131..92009056-chr9:134111257..134113529,2	K562	blood:
6	chr13:92006220..92010132-chr13:92106545..92110507,4	K562	blood:
7	chr13:91884146..91887064-chr13:92005810..92007927,2	K562	blood:
8	chr13:91666492..91668285-chr13:92006589..92008125,2	K562	blood:
9	chr13:90719627..90722250-chr13:92007081..92008697,2	K562	blood:
10	chr13:92005893..92007977-chr13:92204447..92207265,2	K562	blood:
11	chr13:92004766..92010130-chr13:92235897..92240121,6	K562	blood:
12	chr13:92007765..92009366-chr13:92214136..92216197,2	K562	blood:
13	chr13:92006928..92009132-chr13:92273923..92276754,2	K562	blood:
14	chr13:91823924..91825598-chr13:92006671..92008592,2	K562	blood:
15	chr13:91683791..91685341-chr13:92005987..92008919,2	K562	blood:
16	chr13:91893680..91897355-chr13:92007107..92011169,4	K562	blood:
17	chr13:92006061..92008609-chr13:92185169..92187577,3	K562	blood:
18	chr13:92006517..92009365-chr9:134000918..134003856,2	K562	blood:
19	chr13:92006350..92012037-chr13:92182700..92187101,6	K562	blood:
20	chr13:91843313..91845160-chr13:92006102..92008634,2	K562	blood:
21	chr11:62608960..62610617-chr13:92006606..92010281,3	K562	blood:
22	chr13:92007566..92010436-chr13:108654648..108657460,2	K562	blood:
23	chr13:92006840..92009442-chr13:92110730..92113341,2	K562	blood:
24	chr13:92007575..92011337-chr13:92428230..92431057,3	K562	blood:
25	chr1:194758845..194760365-chr13:92006262..92008831,2	K562	blood:
26	chr13:92006314..92008518-chr17:80037350..80038990,2	K562	blood:
27	chr13:92007495..92010220-chr13:92160111..92163100,2	K562	blood:
28	chr13:92006178..92008565-chr13:92176148..92179008,3	K562	blood:
29	chr13:91540464..91542436-chr13:92007500..92010085,2	K562	blood:
30	chr13:92005605..92008410-chr13:108568744..108570897,2	K562	blood:
31	chr13:92006283..92008758-chr13:92301641..92303983,2	K562	blood:
32	chr13:92006867..92008731-chr13:92240311..92242037,2	K562	blood:
33	chr13:92006709..92009565-chr19:18390813..18392345,2	K562	blood:
34	chr13:92004766..92008845-chr13:92235897..92239237,4	K562	blood:
35	chr13:91822541..91826333-chr13:92007078..92009162,4	K562	blood:
36	chr13:92006184..92008910-chr13:93854427..93857344,2	K562	blood:
37	chr13:91851245..91855773-chr13:92007361..92011020,5	K562	blood:
38	chr13:91576022..91578508-chr13:92007800..92009778,2	K562	blood:
39	chr13:92007743..92009790-chr6:125854399..125855899,2	K562	blood:
40	chr13:92006986..92008733-chr6:30584133..30586740,2	K562	blood:
41	chr13:92006631..92008993-chr13:92217984..92219908,2	K562	blood:
42	chr13:91808077..91809932-chr13:92006547..92009302,2	K562	blood:
43	chr13:91907666..91909561-chr13:92007500..92010207,2	K562	blood:
44	chr13:92006882..92008856-chr13:92229692..92231220,2	K562	blood:
45	chr13:92006945..92008960-chr13:92091324..92094208,2	K562	blood:
46	chr13:92006919..92009585-chr6:27098221..27101267,3	K562	blood:
47	chr13:92007364..92011025-chr13:92217645..92220635,3	K562	blood:
48	chr1:194758841..194760344-chr13:92007287..92009017,2	K562	blood:
49	chr13:91656873..91659047-chr13:92007660..92010033,2	K562	blood:
50	chr13:91860520..91862440-chr13:92006561..92009210,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000169710	Chromatin interaction
ENSG00000203667	Chromatin interaction
ENSG00000126883	Chromatin interaction
ENSG00000204569	Chromatin interaction
ENSG00000252622	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000124635	Chromatin interaction
ENSG00000130522	Chromatin interaction
ENSG00000196787	Chromatin interaction
ENSG00000204568	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11838867	0.94[CHB][hapmap];0.81[JPT][hapmap];0.85[ASN][1000 genomes]
rs11839648	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11842349	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12583515	0.81[EUR][1000 genomes]
rs17667894	1.00[CEU][hapmap];0.94[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17667900	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17667931	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17667973	0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs17668103	1.00[CEU][hapmap]
rs17735357	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17735387	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17735544	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1888138	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59829937	0.87[EUR][1000 genomes]
rs60279891	0.87[EUR][1000 genomes]
rs60699901	0.90[ASN][1000 genomes]
rs7323996	0.97[ASN][1000 genomes]
rs7324952	0.93[CHB][hapmap];0.83[JPT][hapmap];0.90[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:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:92001600-92010200	Weak transcription	Spleen	Spleen
2	chr13:92001600-92010800	Weak transcription	Pancreas	Pancrea
3	chr13:92001600-92012200	Weak transcription	Esophagus	oesophagus
4	chr13:92001800-92015600	Weak transcription	Ovary	ovary
5	chr13:92001800-92027200	Weak transcription	Aorta	Aorta
6	chr13:92002000-92008400	Strong transcription	Placenta	Placenta
7	chr13:92002000-92011000	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr13:92002000-92011200	Weak transcription	Colonic Mucosa	Colon
9	chr13:92002000-92012200	Weak transcription	Rectal Smooth Muscle	rectum
10	chr13:92002200-92008400	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr13:92002200-92008800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr13:92002200-92010800	Strong transcription	Fetal Muscle Trunk	muscle
13	chr13:92002400-92010800	Weak transcription	Brain Angular Gyrus	brain
14	chr13:92002400-92012000	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr13:92002800-92009600	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr13:92002800-92009800	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr13:92002800-92010000	Strong transcription	Rectal Mucosa Donor 29	rectum
18	chr13:92003000-92008000	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr13:92003000-92009000	Strong transcription	Primary T cells fromperipheralblood	blood
20	chr13:92003000-92009000	Weak transcription	Lung	lung
21	chr13:92003000-92009400	Strong transcription	H9 Cell Line	embryonic stem cell
22	chr13:92003200-92010400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr13:92003400-92010000	Weak transcription	Fetal Brain Male	brain
24	chr13:92003400-92014000	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr13:92003600-92008000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr13:92003600-92008200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr13:92003600-92008400	Strong transcription	Primary B cells from peripheral blood	blood
28	chr13:92003600-92008400	Strong transcription	Primary T helper cells fromperipheralblood	blood
29	chr13:92003600-92008800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr13:92003600-92009000	Weak transcription	Brain Cingulate Gyrus	brain
31	chr13:92003600-92009200	Genic enhancers	Liver	Liver
32	chr13:92003600-92009200	Weak transcription	Brain Germinal Matrix	brain
33	chr13:92003600-92009600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr13:92003600-92010000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr13:92003600-92010000	Strong transcription	Fetal Muscle Leg	muscle
36	chr13:92003600-92010000	Strong transcription	NHEK	skin
37	chr13:92003600-92010800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr13:92003600-92010800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr13:92003600-92010800	Strong transcription	HSMM	muscle
40	chr13:92003600-92011800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr13:92003600-92012000	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr13:92003600-92012600	Weak transcription	Brain Substantia Nigra	brain
43	chr13:92003600-92012800	Weak transcription	Small Intestine	intestine
44	chr13:92003600-92016600	Weak transcription	Gastric	stomach
45	chr13:92003600-92021200	Weak transcription	Right Ventricle	heart
46	chr13:92003600-92033200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr13:92003800-92008400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr13:92003800-92008800	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr13:92003800-92010000	Strong transcription	H1 Cell Line	embryonic stem cell
50	chr13:92003800-92010600	Weak transcription	Psoas Muscle	Psoas

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