Variant report

Variant	rs9380217
Chromosome Location	chr6:31051553-31051554
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:30839220..30842043-chr6:31051399..31053018,2	K562	blood:
2	chr6:30584043..30585831-chr6:31049669..31051731,2	K562	blood:
3	chr6:30881341..30883528-chr6:31050692..31052360,2	K562	blood:
4	chr6:31050562..31052756-chr6:31081245..31083912,2	MCF-7	breast:
5	chr6:30881341..30883550-chr6:31049543..31052360,3	K562	blood:
6	chr6:30881805..30883309-chr6:31050438..31053270,2	MCF-7	breast:
7	chr6:30579948..30582370-chr6:31051290..31053645,2	K562	blood:

Variant related genes	Relation type
ENSG00000204568	Chromatin interaction
ENSG00000204569	Chromatin interaction
ENSG00000137411	Chromatin interaction
ENSG00000222894	Chromatin interaction
ENSG00000204540	Chromatin interaction

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10947134	0.86[AMR][1000 genomes]
rs10947135	0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs12527394	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12529288	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12662091	0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2233963	0.89[AMR][1000 genomes]
rs2233970	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2233972	0.85[AMR][1000 genomes]
rs2233973	0.80[ASN][1000 genomes]
rs2233983	0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2233984	0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2233985	0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs2517473	0.81[ASN][1000 genomes]
rs2894179	0.95[ASN][1000 genomes]
rs34209658	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs35802713	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3734854	0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs4495304	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4713431	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4947246	0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs4947296	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4947297	0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4947299	0.86[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs4947302	0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs9263460	0.99[ASN][1000 genomes]
rs9263477	0.99[ASN][1000 genomes]
rs9263499	0.94[ASN][1000 genomes]
rs9263512	0.95[ASN][1000 genomes]
rs9263572	0.92[ASN][1000 genomes]
rs9263578	0.92[ASN][1000 genomes]
rs9295949	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9295950	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9348854	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9357108	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9378152	0.96[AMR][1000 genomes]
rs9380215	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9391708	0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs9391709	0.86[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs9394037	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9394038	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9405049	0.86[AMR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3519970	chr6:30382942-31378788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
2	esv3519971	chr6:30382942-31378788	Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1030 gene(s)	inside rSNPs	diseases
3	nsv601481	chr6:30422632-31284253	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1012 gene(s)	inside rSNPs	diseases
4	nsv1015372	chr6:30704734-31582152	Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
5	nsv538173	chr6:30704734-31582152	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
6	nsv1029442	chr6:31006647-31449207	Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	82 gene(s)	inside rSNPs	diseases
7	nsv884132	chr6:31014305-31057183	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	nsv427750	chr6:31028290-31234581	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
9	nsv428140	chr6:31028290-31462106	Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	89 gene(s)	inside rSNPs	diseases
10	esv2758042	chr6:31028290-31497106	Weak transcription Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	101 gene(s)	inside rSNPs	diseases
11	esv2759414	chr6:31028290-31542308	Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	151 gene(s)	inside rSNPs	diseases
12	nsv10813	chr6:31050018-31052784	Weak transcription Enhancers Bivalent Enhancer	TF binding region Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:31040600-31055000	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr6:31040600-31062400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
3	chr6:31041600-31053200	Weak transcription	NH-A	brain
4	chr6:31046600-31053400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr6:31047600-31053800	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr6:31047600-31054600	Weak transcription	A549	lung
7	chr6:31047600-31054800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr6:31047600-31054800	Weak transcription	Left Ventricle	heart
9	chr6:31047600-31054800	Weak transcription	Right Atrium	heart
10	chr6:31047800-31051600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr6:31047800-31051800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr6:31047800-31053800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr6:31047800-31054600	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr6:31047800-31055000	Weak transcription	Brain Hippocampus Middle	brain
15	chr6:31048000-31051600	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr6:31048000-31051600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr6:31048000-31053400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr6:31048000-31054200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr6:31048000-31054800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr6:31048000-31054800	Weak transcription	Dnd41	blood
21	chr6:31049200-31052000	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr6:31050400-31051600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr6:31050400-31051600	Weak transcription	NHEK	skin
24	chr6:31050800-31052000	Enhancers	Fetal Muscle Trunk	muscle
25	chr6:31050800-31052000	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr6:31050800-31054400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr6:31051000-31051600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr6:31051000-31052000	Enhancers	Adipose Nuclei	Adipose
29	chr6:31051000-31062200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr6:31051200-31051600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr6:31051200-31051800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
32	chr6:31051200-31052000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr6:31051200-31052000	Enhancers	Stomach Smooth Muscle	stomach
34	chr6:31051200-31052200	Enhancers	NHDF-Ad	bronchial
35	chr6:31051200-31052200	Enhancers	NHLF	lung
36	chr6:31051200-31052200	Enhancers	Osteobl	bone
37	chr6:31051200-31054200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr6:31051400-31051600	Bivalent Enhancer	Fetal Stomach	stomach
39	chr6:31051400-31051800	Enhancers	HUES48 Cell Line	embryonic stem cell
40	chr6:31051400-31051800	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr6:31051400-31052000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr6:31051400-31052000	Enhancers	Muscle Satellite Cultured Cells	--
43	chr6:31051400-31052000	Enhancers	Fetal Muscle Leg	muscle
44	chr6:31051400-31052000	Enhancers	Psoas Muscle	Psoas
45	chr6:31051400-31052000	Enhancers	Skeletal Muscle Female	skeletal muscle
46	chr6:31051400-31052000	Enhancers	Hela-S3	cervix
47	chr6:31051400-31052000	Enhancers	HMEC	breast
48	chr6:31051400-31052000	Enhancers	HSMM	muscle
49	chr6:31051400-31052000	Enhancers	HSMMtube	muscle
50	chr6:31051400-31052200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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