Variant report

Variant	rs8007038
Chromosome Location	chr14:55801026-55801027
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:55799382..55802320-chr14:55805290..55807790,2	K562	blood:
2	chr14:55795389..55798237-chr14:55800150..55802367,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000258455	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10130894	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs10134937	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10135891	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10138838	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10144869	0.93[YRI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10146943	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs10149926	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10162552	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10220441	0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10483640	0.86[EUR][1000 genomes]
rs10498474	1.00[CHB][hapmap]
rs11844441	1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11851023	1.00[YRI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13379398	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13379420	0.90[YRI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17128262	1.00[CHB][hapmap]
rs17128292	1.00[CHB][hapmap]
rs17128323	0.86[EUR][1000 genomes]
rs17128370	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.86[EUR][1000 genomes]
rs17128434	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17128438	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1886784	1.00[CHB][hapmap]
rs2050669	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2065998	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2274272	1.00[CHB][hapmap]
rs2341536	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28379450	1.00[EUR][1000 genomes]
rs28661252	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28787988	0.87[EUR][1000 genomes]
rs28883964	0.87[EUR][1000 genomes]
rs3759666	1.00[CHB][hapmap]
rs4334208	0.85[AMR][1000 genomes]
rs56042503	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs57612384	0.87[EUR][1000 genomes]
rs59155162	0.87[EUR][1000 genomes]
rs60023093	0.86[EUR][1000 genomes]
rs60204830	0.86[EUR][1000 genomes]
rs61662514	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7142831	0.86[EUR][1000 genomes]
rs7145502	0.86[EUR][1000 genomes]
rs7147172	0.87[EUR][1000 genomes]
rs7148663	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs7153958	0.87[EUR][1000 genomes]
rs7155704	0.86[EUR][1000 genomes]
rs7155729	0.86[EUR][1000 genomes]
rs7155936	1.00[CHB][hapmap]
rs7160642	0.86[EUR][1000 genomes]
rs7160753	0.86[EUR][1000 genomes]
rs74050958	0.86[EUR][1000 genomes]
rs74050963	1.00[EUR][1000 genomes]
rs74050968	0.87[EUR][1000 genomes]
rs74050975	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74053904	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8016444	0.86[EUR][1000 genomes]
rs8016716	0.86[EUR][1000 genomes]
rs8021377	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9323282	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs946058	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9652341	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1039438	chr14:55746585-55886099	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55779200-55817600	Weak transcription	Hela-S3	cervix
2	chr14:55779600-55801200	Weak transcription	Esophagus	oesophagus
3	chr14:55780200-55807800	Weak transcription	Thymus	Thymus
4	chr14:55780600-55806200	Weak transcription	HMEC	breast
5	chr14:55780800-55817200	Weak transcription	Fetal Muscle Trunk	muscle
6	chr14:55782000-55817200	Weak transcription	HSMM	muscle
7	chr14:55784200-55801200	Weak transcription	Fetal Stomach	stomach
8	chr14:55786800-55803000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr14:55787200-55806600	Weak transcription	Fetal Muscle Leg	muscle
10	chr14:55790400-55806800	Weak transcription	Aorta	Aorta
11	chr14:55791800-55817200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr14:55793000-55808600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr14:55794000-55801200	Weak transcription	Spleen	Spleen
14	chr14:55794000-55811800	Weak transcription	Brain Anterior Caudate	brain
15	chr14:55794400-55803000	Weak transcription	Monocytes-CD14+_RO01746	blood
16	chr14:55795000-55806600	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr14:55797600-55801200	Weak transcription	NHDF-Ad	bronchial
18	chr14:55797600-55803000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr14:55797800-55807800	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr14:55798200-55817200	Weak transcription	Brain Cingulate Gyrus	brain
21	chr14:55798800-55801800	Enhancers	Fetal Intestine Large	intestine
22	chr14:55798800-55802000	Enhancers	Small Intestine	intestine
23	chr14:55798800-55802200	Enhancers	Fetal Intestine Small	intestine
24	chr14:55798800-55802200	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr14:55799000-55801200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
26	chr14:55799000-55801400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr14:55799000-55801600	Enhancers	Colon Smooth Muscle	Colon
28	chr14:55799000-55801800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
29	chr14:55799000-55802000	Enhancers	Primary B cells from peripheral blood	blood
30	chr14:55799000-55802000	Enhancers	Sigmoid Colon	Sigmoid Colon
31	chr14:55799000-55802800	Enhancers	A549	lung
32	chr14:55799000-55804000	Enhancers	Rectal Mucosa Donor 31	rectum
33	chr14:55799200-55801400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr14:55799400-55801600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr14:55799400-55803600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr14:55799600-55801200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr14:55799600-55801400	Enhancers	Osteobl	bone
38	chr14:55799600-55801600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr14:55799600-55801600	Enhancers	NH-A	brain
40	chr14:55799600-55804400	Enhancers	Fetal Kidney	kidney
41	chr14:55799800-55801200	Enhancers	Primary hematopoietic stem cells	blood
42	chr14:55799800-55801200	Enhancers	Liver	Liver
43	chr14:55799800-55801200	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr14:55799800-55801600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
45	chr14:55799800-55802200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr14:55799800-55804200	Weak transcription	Fetal Thymus	thymus
47	chr14:55800000-55801600	Enhancers	Duodenum Smooth Muscle	Duodenum
48	chr14:55800000-55802200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr14:55800000-55802800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr14:55800000-55804400	Weak transcription	K562	blood

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