Variant report

Variant	rs8003485
Chromosome Location	chr14:39620788-39620789
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:39618656..39622736-chr14:39641683..39644115,3	MCF-7	breast:
2	chr14:39620588..39622555-chr14:39650912..39652463,2	K562	blood:

Extended variants
information (count: 61 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10132034	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10132953	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs10149829	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11157046	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11157047	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11157048	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12434607	0.95[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12895329	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs175341	0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1950509	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1955917	0.87[EUR][1000 genomes]
rs1956629	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1964842	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2038357	0.85[AFR][1000 genomes];0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2082637	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2099410	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2180214	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2180217	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2180792	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2252040	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3899404	0.87[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs4290398	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4616209	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4899139	0.87[EUR][1000 genomes]
rs4899140	0.87[EUR][1000 genomes]
rs4902294	0.87[EUR][1000 genomes]
rs4902402	0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902419	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902436	0.81[AMR][1000 genomes]
rs56163817	0.91[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6571888	0.87[EUR][1000 genomes]
rs6571889	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6571890	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6571891	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6571894	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6571895	0.86[AMR][1000 genomes]
rs6571896	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6571897	0.85[ASN][1000 genomes]
rs6571904	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6571905	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs7147760	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7154585	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs761804	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs761806	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs761807	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8003194	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8003807	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8007063	0.89[AMR][1000 genomes]
rs8010111	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8011855	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8012178	0.84[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs8014255	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8014677	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8021225	0.89[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs8022141	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9322993	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9671927	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs970623	0.82[EUR][1000 genomes]
rs975591	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3429206	chr14:39160730-39648836	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv1051247	chr14:39604035-39652789	Genic enhancers Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39583800-39626000	Weak transcription	Spleen	Spleen
2	chr14:39584000-39623600	Weak transcription	Esophagus	oesophagus
3	chr14:39584200-39636000	Weak transcription	Small Intestine	intestine
4	chr14:39584200-39638600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr14:39584400-39620800	Weak transcription	Colonic Mucosa	Colon
6	chr14:39584400-39626600	Weak transcription	Aorta	Aorta
7	chr14:39584600-39625800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr14:39588600-39635400	Weak transcription	Fetal Brain Male	brain
9	chr14:39589200-39626400	Weak transcription	Fetal Heart	heart
10	chr14:39592600-39622200	Weak transcription	Right Ventricle	heart
11	chr14:39592800-39626600	Weak transcription	NHLF	lung
12	chr14:39594000-39620800	Weak transcription	Hela-S3	cervix
13	chr14:39596200-39621200	Weak transcription	Brain Substantia Nigra	brain
14	chr14:39598800-39636200	Weak transcription	Stomach Mucosa	stomach
15	chr14:39604400-39635400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr14:39604800-39622400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr14:39605200-39621200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr14:39605800-39625200	Weak transcription	HSMMtube	muscle
19	chr14:39606800-39621200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr14:39607000-39621200	Weak transcription	Brain Cingulate Gyrus	brain
21	chr14:39607000-39625400	Weak transcription	Fetal Kidney	kidney
22	chr14:39607200-39623800	Weak transcription	Ovary	ovary
23	chr14:39608200-39622000	Weak transcription	Brain Anterior Caudate	brain
24	chr14:39608200-39630600	Weak transcription	NHEK	skin
25	chr14:39610000-39623000	Weak transcription	Gastric	stomach
26	chr14:39611000-39622000	Weak transcription	Thymus	Thymus
27	chr14:39611000-39622200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr14:39611000-39637600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr14:39611200-39621000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr14:39611200-39621000	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr14:39611200-39622400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr14:39611200-39622600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr14:39611200-39638800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr14:39611400-39622600	Weak transcription	Brain Germinal Matrix	brain
35	chr14:39611400-39638000	Weak transcription	A549	lung
36	chr14:39612000-39631600	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr14:39612400-39625400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr14:39612800-39637800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr14:39614200-39628200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr14:39614400-39636800	Strong transcription	Monocytes-CD14+_RO01746	blood
41	chr14:39614800-39636800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr14:39615200-39626400	Weak transcription	Pancreas	Pancrea
43	chr14:39615200-39627600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr14:39615800-39627000	Strong transcription	Duodenum Mucosa	Duodenum
45	chr14:39616200-39622600	Strong transcription	Primary neutrophils fromperipheralblood	blood
46	chr14:39616200-39627200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr14:39616200-39627600	Strong transcription	HepG2	liver
48	chr14:39616200-39632200	Strong transcription	Primary T helper cells fromperipheralblood	blood
49	chr14:39616200-39632200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr14:39616200-39632600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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