Variant report

Variant	rs7149609
Chromosome Location	chr14:64334682-64334683
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:64332982..64334814-chr14:64338976..64341175,2	MCF-7	breast:
2	chr14:64319633..64321409-chr14:64334097..64335683,2	MCF-7	breast:
3	chr14:64318570..64321307-chr14:64334480..64337114,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000054654	Chromatin interaction

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs1000904	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10873171	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12435958	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12436656	0.86[ASN][1000 genomes]
rs12587452	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12590842	0.80[ASN][1000 genomes]
rs12893838	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2151763	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2357001	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34486661	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35234298	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs36050513	0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4902249	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902251	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4902252	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs55925976	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60305436	0.80[ASN][1000 genomes]
rs61985747	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61985748	0.80[ASN][1000 genomes]
rs6573532	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6573533	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6573535	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6573536	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs67106029	0.80[ASN][1000 genomes]
rs67975797	0.80[ASN][1000 genomes]
rs7144370	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7145302	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7145736	0.80[ASN][1000 genomes]
rs7145810	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7146469	0.80[ASN][1000 genomes]
rs7150540	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7153723	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7158960	0.92[ASN][1000 genomes]
rs7161586	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8004989	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8009846	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8010094	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8013611	0.82[ASN][1000 genomes]
rs8016321	0.80[ASN][1000 genomes]
rs8017009	0.80[ASN][1000 genomes]
rs945031	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs951249	0.80[ASN][1000 genomes]
rs951250	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[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	chr14:64321200-64340600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr14:64321400-64350200	Weak transcription	Fetal Stomach	stomach
3	chr14:64322800-64340400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr14:64322800-64340600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr14:64323200-64340200	Weak transcription	Left Ventricle	heart
6	chr14:64323200-64340400	Weak transcription	Spleen	Spleen
7	chr14:64324600-64341400	Weak transcription	HSMM	muscle
8	chr14:64327200-64340600	Weak transcription	Right Ventricle	heart
9	chr14:64327400-64355200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr14:64327600-64360000	Weak transcription	Gastric	stomach
11	chr14:64327800-64342200	Weak transcription	Esophagus	oesophagus
12	chr14:64328400-64335000	Weak transcription	Psoas Muscle	Psoas
13	chr14:64330200-64343600	Weak transcription	Brain Germinal Matrix	brain
14	chr14:64330600-64338200	Enhancers	Primary B cells from peripheral blood	blood
15	chr14:64331200-64336600	Weak transcription	HMEC	breast
16	chr14:64331200-64356400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr14:64331400-64339800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr14:64331400-64340400	Weak transcription	Fetal Heart	heart
19	chr14:64331400-64340800	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr14:64331400-64342200	Weak transcription	NHLF	lung
21	chr14:64331600-64334800	Weak transcription	Duodenum Mucosa	Duodenum
22	chr14:64331600-64335000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
23	chr14:64331600-64335000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
24	chr14:64331600-64335000	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr14:64331600-64335000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr14:64331600-64335000	Weak transcription	Liver	Liver
27	chr14:64331600-64335000	Weak transcription	Colon Smooth Muscle	Colon
28	chr14:64331600-64335000	Weak transcription	Rectal Smooth Muscle	rectum
29	chr14:64331600-64335200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr14:64331600-64335200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr14:64331600-64335200	Enhancers	Primary T killer memory cells from peripheral blood	blood
32	chr14:64331600-64335200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr14:64331600-64335200	Weak transcription	Adipose Nuclei	Adipose
34	chr14:64331600-64335400	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr14:64331600-64335400	Weak transcription	Pancreatic Islets	Pancreatic Islet
36	chr14:64331600-64335600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr14:64331600-64336400	Enhancers	Dnd41	blood
38	chr14:64331600-64336600	Enhancers	Primary T helper cells fromperipheralblood	blood
39	chr14:64331600-64336600	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr14:64331600-64336600	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr14:64331600-64336600	Weak transcription	HUVEC	blood vessel
42	chr14:64331600-64336800	Weak transcription	Osteobl	bone
43	chr14:64331600-64340400	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr14:64331600-64340400	Weak transcription	Right Atrium	heart
45	chr14:64331600-64340800	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr14:64331600-64341000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr14:64331600-64341800	Weak transcription	NHDF-Ad	bronchial
48	chr14:64331800-64341400	Enhancers	Primary T cells fromperipheralblood	blood
49	chr14:64332000-64335200	Enhancers	Placenta	Placenta
50	chr14:64332200-64335200	Enhancers	Primary T helper naive cells from peripheral blood	blood

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