Variant report

Variant	rs9368645
Chromosome Location	chr6:30857627-30857628
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:30857540-30857642	K562	blood:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:30796535..30799180-chr6:30856343..30859199,3	MCF-7	breast:
2	chr6:30855370..30857666-chr6:30876080..30878565,2	MCF-7	breast:
3	chr6:30856696..30860777-chr6:30873663..30877180,4	K562	blood:
4	chr6:30704403..30722478-chr6:30842859..30858629,100	MCF-7	breast:
5	chr6:30688404..30690517-chr6:30855397..30858284,2	MCF-7	breast:
6	chr6:30854396..30859063-chr6:30880954..30884819,5	K562	blood:
7	chr6:30844198..30846831-chr6:30855109..30857991,4	K562	blood:
8	chr6:30687707..30689680-chr6:30855398..30858038,2	MCF-7	breast:

No data

Variant related genes	Relation type
MIR4640	TF binding region
DDR1	TF binding region
ENSG00000196230	Chromatin interaction
ENSG00000263608	Chromatin interaction
ENSG00000137312	Chromatin interaction
ENSG00000264731	Chromatin interaction
ENSG00000137331	Chromatin interaction
ENSG00000272273	Chromatin interaction
ENSG00000137411	Chromatin interaction
ENSG00000213780	Chromatin interaction
ENSG00000204580	Chromatin interaction
ENSG00000214894	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs13212094	1.00[AFR][1000 genomes]
rs16897919	1.00[AFR][1000 genomes]
rs16897933	1.00[AFR][1000 genomes]
rs2286654	1.00[EUR][1000 genomes]
rs3869091	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4711248	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4711250	1.00[AFR][1000 genomes]
rs4713378	1.00[AFR][1000 genomes]
rs9295937	1.00[AFR][1000 genomes]
rs9348844	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9357103	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9366762	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9368648	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9378150	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9391637	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9394024	1.00[AFR][1000 genomes]
rs9404935	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 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	nsv884115	chr6:30847710-30858991	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases
11	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
12	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
13	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
14	nsv884122	chr6:30850191-30858991	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
15	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
16	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
17	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
18	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:110 , 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	chr6:30854800-30858600	Genic enhancers	NHEK	skin
7	chr6:30854800-30862600	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr6:30854800-30862600	Weak transcription	Primary T helper cells fromperipheralblood	blood
9	chr6:30854800-30870000	Weak transcription	Primary B cells from cord blood	blood
10	chr6:30854800-30875200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr6:30854800-30875400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr6:30855000-30859200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr6:30855000-30868600	Strong transcription	Fetal Intestine Small	intestine
14	chr6:30855600-30868200	Strong transcription	Fetal Intestine Large	intestine
15	chr6:30855800-30857800	Weak transcription	GM12878-XiMat	blood
16	chr6:30856000-30867600	Strong transcription	Rectal Mucosa Donor 31	rectum
17	chr6:30856000-30868200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
18	chr6:30856000-30869200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr6:30856200-30857800	Strong transcription	H1 Cell Line	embryonic stem cell
20	chr6:30856200-30857800	Genic enhancers	Stomach Smooth Muscle	stomach
21	chr6:30856200-30860400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
22	chr6:30856200-30861600	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr6:30856200-30867800	Strong transcription	Placenta Amnion	Placenta Amnion
24	chr6:30856200-30868000	Strong transcription	Rectal Mucosa Donor 29	rectum
25	chr6:30856400-30857800	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr6:30856400-30857800	Flanking Active TSS	Brain Substantia Nigra	brain
27	chr6:30856400-30857800	Genic enhancers	Pancreas	Pancrea
28	chr6:30856400-30858400	Genic enhancers	Cortex derived primary cultured neurospheres	brain
29	chr6:30856400-30858600	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr6:30856400-30859200	Genic enhancers	Fetal Thymus	thymus
31	chr6:30856400-30859200	Genic enhancers	Skeletal Muscle Female	skeletal muscle
32	chr6:30856400-30860000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr6:30856400-30860400	Genic enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr6:30856400-30861400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr6:30856400-30867400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
36	chr6:30856400-30867800	Strong transcription	Colonic Mucosa	Colon
37	chr6:30856400-30868200	Strong transcription	Primary T cells from cord blood	blood
38	chr6:30856400-30868200	Strong transcription	Duodenum Mucosa	Duodenum
39	chr6:30856400-30868200	Strong transcription	Sigmoid Colon	Sigmoid Colon
40	chr6:30856400-30868400	Strong transcription	HUES48 Cell Line	embryonic stem cell
41	chr6:30856600-30857800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr6:30856600-30857800	Genic enhancers	Brain Anterior Caudate	brain
43	chr6:30856600-30858000	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr6:30856600-30858000	Strong transcription	Thymus	Thymus
45	chr6:30856600-30858200	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr6:30856600-30858400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr6:30856600-30858600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr6:30856600-30858600	Genic enhancers	HSMM	muscle
49	chr6:30856600-30858600	Genic enhancers	HSMMtube	muscle
50	chr6:30856600-30858800	Genic enhancers	Fetal Muscle Trunk	muscle

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