Variant report

Variant	rs2210650
Chromosome Location	chr14:64334410-64334411
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:64332982..64334814-chr14:64338976..64341175,2	MCF-7	breast:
2	chr14:64319633..64321409-chr14:64334097..64335683,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000054654	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs11158510	0.81[AFR][1000 genomes]
rs11158512	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11158516	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11845009	0.81[AFR][1000 genomes]
rs11847056	0.80[ASN][1000 genomes]
rs11848677	0.84[AFR][1000 genomes]
rs11850357	0.80[ASN][1000 genomes]
rs12586475	0.81[AFR][1000 genomes]
rs12587472	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12588087	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12589296	0.83[AFR][1000 genomes]
rs12886839	0.80[ASN][1000 genomes]
rs12892314	0.83[AFR][1000 genomes]
rs12894053	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12894864	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1959034	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1959035	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2149677	0.80[ASN][1000 genomes]
rs2275018	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2356996	0.83[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs2357002	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2357003	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs34780876	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4243627	0.81[AFR][1000 genomes]
rs4902247	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4902248	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6573534	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6573535	0.81[AFR][1000 genomes]
rs7143343	0.84[AFR][1000 genomes];0.80[ASN][1000 genomes]
rs7143535	0.83[AFR][1000 genomes]
rs7145302	0.80[AFR][1000 genomes]
rs7145657	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7146821	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7148088	0.84[AFR][1000 genomes]
rs7148584	0.82[AFR][1000 genomes]
rs7149766	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7153101	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7155129	0.80[ASN][1000 genomes]
rs7157314	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7157323	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7158974	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7160127	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7493416	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7493843	0.80[ASN][1000 genomes]
rs8005553	0.81[AFR][1000 genomes]
rs8005899	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8008552	0.80[ASN][1000 genomes]
rs8015158	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8015311	0.80[ASN][1000 genomes]
rs8015354	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8022917	0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs945030	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs951250	0.80[AFR][1000 genomes]
rs954730	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9707224	0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs998241	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915909	chr14:63620440-64560369	Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv1038825	chr14:64109441-64491720	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1037140	chr14:64248421-64442980	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv542119	chr14:64248421-64442980	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:64321200-64334600	Weak transcription	Pancreas	Pancrea
2	chr14:64321200-64340600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr14:64321400-64350200	Weak transcription	Fetal Stomach	stomach
4	chr14:64322800-64340400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr14:64322800-64340600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr14:64323200-64340200	Weak transcription	Left Ventricle	heart
7	chr14:64323200-64340400	Weak transcription	Spleen	Spleen
8	chr14:64324600-64341400	Weak transcription	HSMM	muscle
9	chr14:64327200-64340600	Weak transcription	Right Ventricle	heart
10	chr14:64327400-64355200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr14:64327600-64360000	Weak transcription	Gastric	stomach
12	chr14:64327800-64342200	Weak transcription	Esophagus	oesophagus
13	chr14:64328400-64335000	Weak transcription	Psoas Muscle	Psoas
14	chr14:64330200-64343600	Weak transcription	Brain Germinal Matrix	brain
15	chr14:64330600-64338200	Enhancers	Primary B cells from peripheral blood	blood
16	chr14:64331200-64336600	Weak transcription	HMEC	breast
17	chr14:64331200-64356400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr14:64331400-64334600	Weak transcription	Small Intestine	intestine
19	chr14:64331400-64339800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr14:64331400-64340400	Weak transcription	Fetal Heart	heart
21	chr14:64331400-64340800	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr14:64331400-64342200	Weak transcription	NHLF	lung
23	chr14:64331600-64334600	Weak transcription	Fetal Thymus	thymus
24	chr14:64331600-64334600	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr14:64331600-64334800	Weak transcription	Duodenum Mucosa	Duodenum
26	chr14:64331600-64335000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
27	chr14:64331600-64335000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr14:64331600-64335000	Enhancers	Primary T helper cells PMA-I stimulated	--
29	chr14:64331600-64335000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr14:64331600-64335000	Weak transcription	Liver	Liver
31	chr14:64331600-64335000	Weak transcription	Colon Smooth Muscle	Colon
32	chr14:64331600-64335000	Weak transcription	Rectal Smooth Muscle	rectum
33	chr14:64331600-64335200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
34	chr14:64331600-64335200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
35	chr14:64331600-64335200	Enhancers	Primary T killer memory cells from peripheral blood	blood
36	chr14:64331600-64335200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr14:64331600-64335200	Weak transcription	Adipose Nuclei	Adipose
38	chr14:64331600-64335400	Weak transcription	Primary neutrophils fromperipheralblood	blood
39	chr14:64331600-64335400	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr14:64331600-64335600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
41	chr14:64331600-64336400	Enhancers	Dnd41	blood
42	chr14:64331600-64336600	Enhancers	Primary T helper cells fromperipheralblood	blood
43	chr14:64331600-64336600	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr14:64331600-64336600	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr14:64331600-64336600	Weak transcription	HUVEC	blood vessel
46	chr14:64331600-64336800	Weak transcription	Osteobl	bone
47	chr14:64331600-64340400	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr14:64331600-64340400	Weak transcription	Right Atrium	heart
49	chr14:64331600-64340800	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr14:64331600-64341000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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