Variant report

Variant	rs8005767
Chromosome Location	chr14:63905390-63905391
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:63904669..63907408-chr14:64803214..64804862,2	K562	blood:
2	chr14:63904337..63908229-chr14:63908991..63915546,7	MCF-7	breast:
3	chr14:63904950..63907222-chr14:63907276..63908782,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000140009	Chromatin interaction
ENSG00000214770	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10129182	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs10135999	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11158494	1.00[ASN][1000 genomes]
rs1255724	1.00[ASN][1000 genomes]
rs1255728	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1255729	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1255734	1.00[ASN][1000 genomes]
rs1255736	1.00[ASN][1000 genomes]
rs1255744	1.00[ASN][1000 genomes]
rs1255745	1.00[ASN][1000 genomes]
rs1255747	1.00[ASN][1000 genomes]
rs1255783	1.00[ASN][1000 genomes]
rs17101259	1.00[ASN][1000 genomes]
rs28420069	1.00[ASN][1000 genomes]
rs28607114	1.00[ASN][1000 genomes]
rs28708979	1.00[ASN][1000 genomes]
rs28744493	1.00[ASN][1000 genomes]
rs61983965	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61995015	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6573515	1.00[CHB][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7140400	0.93[EUR][1000 genomes]
rs7141832	1.00[CHB][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7150291	1.00[ASN][1000 genomes]
rs7150490	1.00[ASN][1000 genomes]
rs7156664	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs73278655	1.00[ASN][1000 genomes]
rs74056132	1.00[ASN][1000 genomes]
rs74056138	1.00[ASN][1000 genomes]
rs74056139	1.00[ASN][1000 genomes]
rs74056141	1.00[ASN][1000 genomes]
rs8003274	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs8009130	1.00[ASN][1000 genomes]
rs8017413	1.00[ASN][1000 genomes]
rs8021183	1.00[CHB][hapmap];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv527251	chr14:63400786-64068806	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv520528	chr14:63400786-64157117	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS 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	49 gene(s)	inside rSNPs	diseases
3	nsv530774	chr14:63591348-64029881	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	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
5	nsv832815	chr14:63750058-63913900	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:63851200-63922000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr14:63854800-63922400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr14:63887400-63918600	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr14:63887400-63918800	Weak transcription	Fetal Muscle Trunk	muscle
5	chr14:63899400-63907800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr14:63899800-63906400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr14:63900600-63921800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr14:63901200-63906200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
9	chr14:63901400-63906000	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr14:63901600-63906200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr14:63901600-63907200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr14:63901800-63905400	Enhancers	Brain Cingulate Gyrus	brain
13	chr14:63901800-63906200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr14:63902000-63905400	Enhancers	Fetal Stomach	stomach
15	chr14:63902000-63905400	Enhancers	Sigmoid Colon	Sigmoid Colon
16	chr14:63902000-63905600	Enhancers	Duodenum Mucosa	Duodenum
17	chr14:63902000-63906800	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr14:63902000-63907000	Enhancers	Fetal Heart	heart
19	chr14:63902200-63905400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr14:63902200-63905600	Enhancers	ES-I3 Cell Line	embryonic stem cell
21	chr14:63902200-63907400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr14:63902400-63905400	Enhancers	Right Ventricle	heart
23	chr14:63902600-63905400	Enhancers	Placenta	Placenta
24	chr14:63902600-63907800	Weak transcription	Primary B cells from cord blood	blood
25	chr14:63903000-63907400	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr14:63903200-63905400	Enhancers	Left Ventricle	heart
27	chr14:63903200-63905600	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr14:63903200-63905600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr14:63903200-63906800	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr14:63903400-63905400	Enhancers	Ovary	ovary
31	chr14:63903400-63905800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr14:63903800-63905600	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr14:63903800-63907000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
34	chr14:63904200-63905400	Enhancers	Fetal Muscle Leg	muscle
35	chr14:63904200-63905400	Enhancers	HSMMtube	muscle
36	chr14:63904200-63905600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr14:63904200-63905600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr14:63904400-63905400	Enhancers	Primary T cells fromperipheralblood	blood
39	chr14:63904400-63905400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
40	chr14:63904400-63905400	Enhancers	Fetal Intestine Large	intestine
41	chr14:63904400-63905400	Enhancers	Fetal Thymus	thymus
42	chr14:63904400-63905400	Flanking Active TSS	A549	lung
43	chr14:63904400-63905400	Enhancers	HUVEC	blood vessel
44	chr14:63904400-63905600	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr14:63904400-63905600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr14:63904400-63905600	Flanking Active TSS	Hela-S3	cervix
47	chr14:63904400-63905600	Enhancers	NH-A	brain
48	chr14:63904400-63906000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
49	chr14:63904400-63907200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr14:63904600-63905400	Enhancers	ES-WA7 Cell Line	embryonic stem cell

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