Variant report

Variant	rs2179011
Chromosome Location	chr8:11664895-11664896
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:11664660-11665035	K562	blood:	n/a	n/a
2	POLR2A	chr8:11664775-11666889	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr8:11664843-11666654	SK-N-MC	brain:	n/a	n/a
4	POLR2A	chr8:11664794-11665061	K562	blood:	n/a	n/a
5	POLR2A	chr8:11664784-11666154	HepG2	liver:	n/a	n/a
6	POLR2A	chr8:11659475-11672720	K562	blood:	n/a	n/a
7	PML	chr8:11664765-11665899	K562	blood:	n/a	n/a
8	MXI1	chr8:11664826-11667052	SK-N-SH	brain:	n/a	n/a
9	POLR2A	chr8:11664833-11666016	HL-60	blood:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:11658127..11661675-chr8:11664375..11667732,3	K562	blood:
2	chr8:11662566..11665636-chr8:11705504..11707081,3	K562	blood:
3	chr8:11658330..11660255-chr8:11664033..11666074,2	MCF-7	breast:
4	chr8:11625432..11628777-chr8:11664764..11667821,4	MCF-7	breast:
5	chr8:11663695..11667740-chr8:11686501..11689379,3	MCF-7	breast:
6	chr8:11618295..11620623-chr8:11664020..11665628,2	K562	blood:
7	chr8:11658229..11662389-chr8:11662980..11669380,10	MCF-7	breast:
8	chr8:11664303..11666890-chr8:11705423..11707941,2	MCF-7	breast:
9	chr8:11662802..11665653-chr8:11685244..11688002,2	K562	blood:

No data

Variant related genes	Relation type
FDFT1	TF binding region
ENSG00000255046	TF binding region
ENSG00000255394	Chromatin interaction
ENSG00000154328	Chromatin interaction
ENSG00000079459	Chromatin interaction
ENSG00000164733	Chromatin interaction
ENSG00000255046	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1032575	0.94[ASN][1000 genomes]
rs1032577	0.84[ASN][1000 genomes]
rs1618110	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1619667	0.84[ASN][1000 genomes]
rs1736057	0.84[ASN][1000 genomes]
rs1736060	0.83[ASN][1000 genomes]
rs1736062	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1736067	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1736070	0.87[ASN][1000 genomes]
rs17524895	0.82[ASN][1000 genomes]
rs2179010	0.95[ASN][1000 genomes]
rs2645429	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2686197	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2686198	0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3824114	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529399	chr8:10970091-11805960	Enhancers Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv1018978	chr8:11438267-11858466	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv917963	chr8:11540723-11751798	Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1027378	chr8:11541739-11858466	Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv1028229	chr8:11575762-11805961	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv539475	chr8:11575762-11805961	Flanking Active TSS Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	nsv428514	chr8:11580381-11765706	Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
8	nsv916483	chr8:11590294-11672038	Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
9	nsv1034014	chr8:11602337-11858466	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
10	nsv1023803	chr8:11623570-11721655	Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
11	nsv539476	chr8:11623570-11721655	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
12	nsv890361	chr8:11625808-11755513	Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
13	nsv890362	chr8:11625808-11771089	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
14	nsv1032739	chr8:11643803-11716473	Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
15	nsv890363	chr8:11647941-11681825	Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
16	nsv890364	chr8:11654796-11671041	Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
17	nsv1034132	chr8:11657033-12198242	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:11658400-11666800	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr8:11660400-11668200	Transcr. at gene 5' and 3'	Dnd41	blood
3	chr8:11660800-11665800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr8:11660800-11666000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr8:11661000-11667200	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:11661200-11665400	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr8:11661200-11665400	Enhancers	Primary neutrophils fromperipheralblood	blood
8	chr8:11661400-11665400	Enhancers	Primary monocytes fromperipheralblood	blood
9	chr8:11661400-11665400	Weak transcription	Aorta	Aorta
10	chr8:11661600-11665200	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr8:11661600-11665600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
12	chr8:11661800-11665000	Enhancers	Brain Anterior Caudate	brain
13	chr8:11661800-11665000	Weak transcription	Stomach Smooth Muscle	stomach
14	chr8:11661800-11665400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr8:11662000-11665000	Enhancers	Liver	Liver
16	chr8:11662000-11665200	Weak transcription	Fetal Intestine Large	intestine
17	chr8:11662000-11665200	Weak transcription	Fetal Kidney	kidney
18	chr8:11662000-11665400	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr8:11662000-11665400	Enhancers	Primary T cells fromperipheralblood	blood
20	chr8:11662000-11665400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr8:11662000-11665400	Enhancers	Primary T helper naive cells from peripheral blood	blood
22	chr8:11662000-11665400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr8:11662000-11665400	Weak transcription	HSMM	muscle
24	chr8:11662200-11665200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr8:11662200-11665400	Enhancers	Primary B cells from cord blood	blood
26	chr8:11662400-11665800	Flanking Active TSS	Duodenum Mucosa	Duodenum
27	chr8:11662400-11665800	Flanking Active TSS	HUVEC	blood vessel
28	chr8:11662400-11666800	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
29	chr8:11662400-11666800	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr8:11662600-11665000	Weak transcription	Rectal Smooth Muscle	rectum
31	chr8:11662600-11665200	Weak transcription	Right Atrium	heart
32	chr8:11662600-11665400	Weak transcription	Gastric	stomach
33	chr8:11662600-11665400	Enhancers	Small Intestine	intestine
34	chr8:11662600-11667000	Transcr. at gene 5' and 3'	NHEK	skin
35	chr8:11663200-11665200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr8:11663200-11665600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr8:11663400-11665400	Enhancers	Sigmoid Colon	Sigmoid Colon
38	chr8:11663600-11665000	Active TSS	Fetal Brain Female	brain
39	chr8:11663600-11665000	Enhancers	A549	lung
40	chr8:11663600-11665400	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr8:11663800-11665000	Enhancers	Fetal Heart	heart
42	chr8:11663800-11665400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr8:11663800-11665400	Weak transcription	Esophagus	oesophagus
44	chr8:11663800-11665400	Enhancers	Fetal Stomach	stomach
45	chr8:11663800-11665800	Bivalent/Poised TSS	HepG2	liver
46	chr8:11664000-11665000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr8:11664000-11665000	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr8:11664000-11665000	Weak transcription	Adipose Nuclei	Adipose
49	chr8:11664000-11665200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
50	chr8:11664000-11665200	Enhancers	Colon Smooth Muscle	Colon

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