Variant report

Variant	rs8010213
Chromosome Location	chr14:65552182-65552183
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:65546973..65549420-chr14:65550099..65553480,3	K562	blood:
2	chr14:65544834..65549029-chr14:65550819..65555965,7	MCF-7	breast:
3	chr14:65550861..65552492-chr14:65562559..65565476,2	MCF-7	breast:
4	chr14:65550388..65552268-chr14:65555511..65558420,2	K562	blood:
5	chr14:65551438..65553805-chr14:65557171..65559168,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000259118	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10143198	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10151162	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11158572	0.82[EUR][1000 genomes]
rs11158573	0.81[EUR][1000 genomes]
rs11158574	0.81[EUR][1000 genomes]
rs1124751	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1124752	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11625045	0.86[EUR][1000 genomes]
rs11626720	0.80[EUR][1000 genomes]
rs12147959	0.81[EUR][1000 genomes]
rs1256417	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1270074	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1271582	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12880781	0.82[EUR][1000 genomes]
rs12888794	0.82[EUR][1000 genomes]
rs1953228	0.87[EUR][1000 genomes]
rs1953232	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1957948	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1957949	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1998688	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2093989	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2151755	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2763888	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2781373	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2781374	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2781375	0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34459643	0.83[EUR][1000 genomes]
rs35410051	0.84[AFR][1000 genomes];0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs35520739	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35769504	0.81[EUR][1000 genomes]
rs45604339	0.84[EUR][1000 genomes]
rs4899161	0.92[EUR][1000 genomes]
rs4902357	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4902358	0.86[EUR][1000 genomes]
rs4902359	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4902360	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4902361	0.96[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4902362	0.86[ASN][1000 genomes]
rs55658675	0.86[EUR][1000 genomes]
rs7143495	0.81[EUR][1000 genomes]
rs7145112	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7146939	0.81[ASN][1000 genomes]
rs7150646	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7152277	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7154852	0.87[EUR][1000 genomes]
rs7156617	0.93[EUR][1000 genomes]
rs7158239	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7159443	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7161394	0.87[EUR][1000 genomes]
rs762810	0.80[EUR][1000 genomes]
rs8005829	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8008095	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8009396	0.82[EUR][1000 genomes]
rs8009714	0.82[EUR][1000 genomes]
rs8015921	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs8181937	0.83[EUR][1000 genomes]
rs8181938	0.83[EUR][1000 genomes]
rs8181939	0.87[EUR][1000 genomes]
rs884683	0.82[EUR][1000 genomes]
rs942626	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs942627	0.87[EUR][1000 genomes]
rs942628	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs942629	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs998247	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[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	nsv832816	chr14:65473244-65644645	Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65527800-65553600	Strong transcription	Dnd41	blood
2	chr14:65528800-65555400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr14:65530000-65553000	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr14:65534000-65553600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr14:65534800-65553400	Strong transcription	Thymus	Thymus
6	chr14:65536000-65553600	Strong transcription	Fetal Thymus	thymus
7	chr14:65538800-65553600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
8	chr14:65538800-65562000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr14:65539000-65562400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr14:65539400-65552400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr14:65539600-65563200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr14:65539800-65553200	Strong transcription	Cortex derived primary cultured neurospheres	brain
13	chr14:65541600-65552400	Strong transcription	Hela-S3	cervix
14	chr14:65544000-65552400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr14:65544400-65553600	Weak transcription	Fetal Brain Male	brain
16	chr14:65544600-65553600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr14:65544800-65552400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr14:65544800-65552400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr14:65545400-65563000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr14:65545600-65552400	Genic enhancers	Primary T helper cells fromperipheralblood	blood
21	chr14:65545600-65552600	Genic enhancers	Primary T helper cells PMA-I stimulated	--
22	chr14:65546000-65553600	Strong transcription	HSMM	muscle
23	chr14:65546200-65553600	Weak transcription	Fetal Kidney	kidney
24	chr14:65546200-65562400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr14:65546400-65553600	Strong transcription	Fetal Muscle Leg	muscle
26	chr14:65546400-65562400	Strong transcription	Placenta	Placenta
27	chr14:65547400-65552200	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr14:65548200-65552400	Strong transcription	HUES64 Cell Line	embryonic stem cell
29	chr14:65548200-65552600	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr14:65548400-65552400	Weak transcription	Rectal Smooth Muscle	rectum
31	chr14:65548600-65552400	Strong transcription	HUES48 Cell Line	embryonic stem cell
32	chr14:65548600-65561800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr14:65548800-65552600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr14:65548800-65552600	Weak transcription	NHEK	skin
35	chr14:65548800-65553200	Strong transcription	Primary B cells from cord blood	blood
36	chr14:65548800-65553200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr14:65548800-65553600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
38	chr14:65548800-65553600	Weak transcription	Colonic Mucosa	Colon
39	chr14:65548800-65555000	Strong transcription	Primary B cells from peripheral blood	blood
40	chr14:65548800-65555400	Weak transcription	HMEC	breast
41	chr14:65548800-65562000	Strong transcription	Liver	Liver
42	chr14:65548800-65563200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr14:65548800-65564800	Strong transcription	HUVEC	blood vessel
44	chr14:65549000-65553600	Weak transcription	Small Intestine	intestine
45	chr14:65549000-65559000	Strong transcription	Duodenum Mucosa	Duodenum
46	chr14:65549200-65552200	Strong transcription	Primary monocytes fromperipheralblood	blood
47	chr14:65549200-65552400	Weak transcription	Brain Substantia Nigra	brain
48	chr14:65549200-65553600	Weak transcription	Pancreas	Pancrea
49	chr14:65549200-65554000	Weak transcription	Brain Cingulate Gyrus	brain
50	chr14:65549400-65553600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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