Variant report

Variant	rs514057
Chromosome Location	chr8:102915449-102915450
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:102915036..102919130-chr8:102919959..102923677,4	MCF-7	breast:
2	chr8:102912593..102916375-chr8:102916443..102918583,3	K562	blood:

Extended variants
information (count: 90 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs1144545	0.92[EUR][1000 genomes]
rs1148497	0.84[EUR][1000 genomes]
rs1148499	0.85[EUR][1000 genomes]
rs1264946	0.88[EUR][1000 genomes]
rs1264948	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1264949	0.88[EUR][1000 genomes]
rs1271946	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1313944	0.84[EUR][1000 genomes]
rs1313945	0.88[EUR][1000 genomes]
rs472638	0.91[EUR][1000 genomes]
rs472963	0.85[EUR][1000 genomes]
rs473498	0.84[EUR][1000 genomes]
rs477236	0.81[EUR][1000 genomes]
rs478092	0.85[EUR][1000 genomes]
rs478189	0.88[EUR][1000 genomes]
rs478896	0.81[EUR][1000 genomes]
rs478917	0.92[EUR][1000 genomes]
rs479041	0.86[EUR][1000 genomes]
rs479742	0.87[EUR][1000 genomes]
rs480570	0.91[EUR][1000 genomes]
rs480955	0.82[EUR][1000 genomes]
rs481545	0.92[EUR][1000 genomes]
rs482023	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs484657	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs485252	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs485263	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs485363	0.91[EUR][1000 genomes]
rs486196	0.82[EUR][1000 genomes]
rs486496	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs487863	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs487987	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs488034	0.85[EUR][1000 genomes]
rs489973	0.88[EUR][1000 genomes]
rs490032	0.86[EUR][1000 genomes]
rs490096	0.85[EUR][1000 genomes]
rs490125	0.82[EUR][1000 genomes]
rs494352	0.91[EUR][1000 genomes]
rs495636	0.92[EUR][1000 genomes]
rs497905	0.84[EUR][1000 genomes]
rs502334	0.91[EUR][1000 genomes]
rs505460	0.84[EUR][1000 genomes]
rs506026	0.85[EUR][1000 genomes]
rs508386	0.83[EUR][1000 genomes]
rs510524	0.88[EUR][1000 genomes]
rs512202	0.87[EUR][1000 genomes]
rs513159	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs513472	0.91[EUR][1000 genomes]
rs517868	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs519197	0.85[EUR][1000 genomes]
rs520880	0.85[EUR][1000 genomes]
rs526533	0.85[EUR][1000 genomes]
rs529684	0.91[EUR][1000 genomes]
rs531624	0.91[EUR][1000 genomes]
rs534512	0.81[EUR][1000 genomes]
rs537941	0.81[EUR][1000 genomes]
rs539663	0.81[EUR][1000 genomes]
rs540459	0.92[EUR][1000 genomes]
rs542208	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs543897	0.90[EUR][1000 genomes]
rs544821	0.87[EUR][1000 genomes]
rs544928	0.81[EUR][1000 genomes]
rs549281	0.91[EUR][1000 genomes]
rs550281	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs551295	0.90[EUR][1000 genomes]
rs553463	0.84[EUR][1000 genomes]
rs554945	0.90[EUR][1000 genomes]
rs557654	0.91[EUR][1000 genomes]
rs558159	0.82[EUR][1000 genomes]
rs558772	0.83[EUR][1000 genomes]
rs558985	0.87[EUR][1000 genomes]
rs561000	0.82[EUR][1000 genomes]
rs561603	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs562037	0.84[EUR][1000 genomes]
rs563463	0.85[EUR][1000 genomes]
rs564718	0.85[EUR][1000 genomes]
rs566264	0.81[EUR][1000 genomes]
rs566315	0.91[EUR][1000 genomes]
rs566392	0.88[EUR][1000 genomes]
rs568194	0.88[EUR][1000 genomes]
rs569015	0.92[EUR][1000 genomes]
rs569787	0.88[EUR][1000 genomes]
rs571673	0.85[EUR][1000 genomes]
rs572692	0.85[EUR][1000 genomes]
rs576173	0.91[EUR][1000 genomes]
rs577756	0.91[EUR][1000 genomes]
rs578603	0.81[EUR][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	nsv1018653	chr8:102818271-103009082	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv539700	chr8:102818271-103009082	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv465749	chr8:102847202-102929460	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv611819	chr8:102847202-102929460	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:102910200-102916000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr8:102910200-102919800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr8:102914000-102916200	Enhancers	Lung	lung
4	chr8:102914200-102916400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr8:102914200-102916400	Enhancers	HMEC	breast
6	chr8:102914200-102916600	Enhancers	Fetal Heart	heart
7	chr8:102914600-102915600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr8:102914600-102915800	Enhancers	Esophagus	oesophagus
9	chr8:102914600-102916000	Enhancers	Left Ventricle	heart
10	chr8:102914600-102916000	Enhancers	Placenta Amnion	Placenta Amnion
11	chr8:102914600-102916000	Enhancers	Spleen	Spleen
12	chr8:102914600-102916200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr8:102914600-102916200	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr8:102914800-102916000	Enhancers	Fetal Stomach	stomach
15	chr8:102914800-102916400	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr8:102914800-102918000	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr8:102915000-102917800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr8:102915200-102916000	Enhancers	Primary hematopoietic stem cells	blood
19	chr8:102915200-102916000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
20	chr8:102915200-102916000	Enhancers	Colon Smooth Muscle	Colon
21	chr8:102915200-102916200	Enhancers	H9 Cell Line	embryonic stem cell
22	chr8:102915200-102916400	Enhancers	HSMMtube	muscle
23	chr8:102915200-102938800	Weak transcription	Aorta	Aorta
24	chr8:102915400-102915800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr8:102915400-102915800	Enhancers	GM12878-XiMat	blood
26	chr8:102915400-102916000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr8:102915400-102916000	Enhancers	Fetal Muscle Trunk	muscle
28	chr8:102915400-102916000	Enhancers	Right Ventricle	heart
29	chr8:102915400-102916000	Enhancers	K562	blood
30	chr8:102915400-102916200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr8:102915400-102916200	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr8:102915400-102916200	Enhancers	Psoas Muscle	Psoas
33	chr8:102915400-102916200	Enhancers	Rectal Mucosa Donor 29	rectum
34	chr8:102915400-102916200	Enhancers	Right Atrium	heart
35	chr8:102915400-102916200	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr8:102915400-102916200	Enhancers	Stomach Smooth Muscle	stomach
37	chr8:102915400-102916400	Enhancers	Primary T cells fromperipheralblood	blood
38	chr8:102915400-102916400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
39	chr8:102915400-102916400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
40	chr8:102915400-102916400	Enhancers	Duodenum Smooth Muscle	Duodenum
41	chr8:102915400-102916400	Enhancers	Ovary	ovary
42	chr8:102915400-102916400	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr8:102915400-102916400	Enhancers	NHDF-Ad	bronchial
44	chr8:102915400-102916800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr8:102915400-102916800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
46	chr8:102915400-102919400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr8:102915400-102919400	Weak transcription	Rectal Smooth Muscle	rectum
48	chr8:102915400-102919800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr8:102915400-102919800	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr8:102915400-102920000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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