Variant report

Variant	rs9461639
Chromosome Location	chr6:30859355-30859356
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EGR1	chr6:30859093-30859375	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:30856696..30860777-chr6:30873663..30877180,4	K562	blood:
2	chr6:30847234..30851507-chr6:30857768..30862295,8	K562	blood:
3	chr6:30859072..30860642-chr6:30873697..30876648,2	MCF-7	breast:

Variant related genes	Relation type
DDR1	TF binding region
ENSG00000264731	Chromatin interaction
ENSG00000213780	Chromatin interaction
ENSG00000137411	Chromatin interaction
ENSG00000204580	Chromatin interaction

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10947113	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10947114	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12528271	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12697941	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2074511	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2239518	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2240803	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2267641	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2285319	0.86[EUR][1000 genomes]
rs2286655	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2286656	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2524236	0.85[EUR][1000 genomes]
rs3213644	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs3916232	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4711247	0.86[EUR][1000 genomes]
rs4711249	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4713402	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9295928	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9295930	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9295933	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9366761	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9368646	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9394021	0.86[EUR][1000 genomes]
rs9468841	0.81[AMR][1000 genomes]
rs9468843	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9468847	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9501030	0.87[EUR][1000 genomes]
rs9501035	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9501340	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9501491	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 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	nsv884109	chr6:30824532-30872203	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
7	nsv884111	chr6:30845563-30864279	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
8	nsv884112	chr6:30845563-30866618	Flanking Active TSS Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
9	nsv884114	chr6:30846830-30867830	Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
10	nsv884116	chr6:30848253-30864279	Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
11	nsv884117	chr6:30849124-30862423	Flanking Active TSS Active TSS Strong transcription Genic enhancers Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
12	nsv884120	chr6:30849822-30864279	Genic enhancers Flanking Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
13	nsv884123	chr6:30850191-30865904	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
14	nsv884124	chr6:30854090-30864279	Flanking Active TSS Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	18 gene(s)	inside rSNPs	diseases
15	nsv884125	chr6:30854090-30864829	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA	18 gene(s)	inside rSNPs	diseases
16	nsv1031677	chr6:30857542-30972865	Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:30853000-30861600	Weak transcription	Small Intestine	intestine
2	chr6:30854400-30860600	Weak transcription	Aorta	Aorta
3	chr6:30854400-30862200	Weak transcription	Liver	Liver
4	chr6:30854600-30860000	Weak transcription	Right Ventricle	heart
5	chr6:30854600-30875400	Weak transcription	Psoas Muscle	Psoas
6	chr6:30854800-30862600	Weak transcription	Primary T helper cells PMA-I stimulated	--
7	chr6:30854800-30862600	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr6:30854800-30870000	Weak transcription	Primary B cells from cord blood	blood
9	chr6:30854800-30875200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr6:30854800-30875400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr6:30855000-30868600	Strong transcription	Fetal Intestine Small	intestine
12	chr6:30855600-30868200	Strong transcription	Fetal Intestine Large	intestine
13	chr6:30856000-30867600	Strong transcription	Rectal Mucosa Donor 31	rectum
14	chr6:30856000-30868200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
15	chr6:30856000-30869200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr6:30856200-30860400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
17	chr6:30856200-30861600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr6:30856200-30867800	Strong transcription	Placenta Amnion	Placenta Amnion
19	chr6:30856200-30868000	Strong transcription	Rectal Mucosa Donor 29	rectum
20	chr6:30856400-30860000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr6:30856400-30860400	Genic enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr6:30856400-30861400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr6:30856400-30867400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
24	chr6:30856400-30867800	Strong transcription	Colonic Mucosa	Colon
25	chr6:30856400-30868200	Strong transcription	Primary T cells from cord blood	blood
26	chr6:30856400-30868200	Strong transcription	Duodenum Mucosa	Duodenum
27	chr6:30856400-30868200	Strong transcription	Sigmoid Colon	Sigmoid Colon
28	chr6:30856400-30868400	Strong transcription	HUES48 Cell Line	embryonic stem cell
29	chr6:30856600-30859600	Genic enhancers	Skeletal Muscle Male	skeletal muscle
30	chr6:30856600-30859800	Strong transcription	A549	lung
31	chr6:30856600-30861200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr6:30856600-30863600	Weak transcription	Hela-S3	cervix
33	chr6:30856600-30867600	Strong transcription	Primary B cells from peripheral blood	blood
34	chr6:30856600-30867600	Strong transcription	HepG2	liver
35	chr6:30856600-30867800	Strong transcription	H9 Cell Line	embryonic stem cell
36	chr6:30856600-30867800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr6:30856600-30867800	Strong transcription	Lung	lung
38	chr6:30856600-30867800	Strong transcription	Ovary	ovary
39	chr6:30856600-30868000	Strong transcription	Dnd41	blood
40	chr6:30856600-30868200	Strong transcription	HUES64 Cell Line	embryonic stem cell
41	chr6:30856600-30868200	Strong transcription	Placenta	Placenta
42	chr6:30856800-30859600	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr6:30856800-30860200	Weak transcription	Osteobl	bone
44	chr6:30856800-30860800	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr6:30856800-30861000	Weak transcription	Left Ventricle	heart
46	chr6:30856800-30862200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr6:30856800-30862200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr6:30856800-30863000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr6:30856800-30867400	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr6:30856800-30867600	Strong transcription	Adipose Nuclei	Adipose

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