Variant report

Variant	rs35568135
Chromosome Location	chr18:9474385-9474386
allele	C/T
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	POLR2A	chr18:9474167-9474442	MCF-7	breast:	n/a	n/a
2	CHD2	chr18:9474318-9476133	GM12878	blood:	n/a	chr18:9475475-9475485
3	POLR2A	chr18:9474211-9476167	K562	blood:	n/a	n/a
4	MAX	chr18:9474280-9474443	HepG2	liver:	n/a	n/a
5	CTBP2	chr18:9474236-9476037	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr18:9474233-9476139	K562	blood:	n/a	n/a
7	MXI1	chr18:9473591-9476846	SK-N-SH	brain:	n/a	n/a
8	HCFC1	chr18:9474333-9476749	Hela-S3	cervix:	n/a	n/a
9	SMARCB1	chr18:9474108-9476347	Hela-S3	cervix:	n/a	n/a
10	SIN3A	chr18:9474198-9476607	H1-hESC	embryonic stem cell:	n/a	chr18:9475962-9475975
11	POLR2A	chr18:9474071-9476103	ECC-1	luminal epithelium:	n/a	n/a
12	HA-E2F1	chr18:9474244-9476278	MCF-7	breast:	n/a	chr18:9474970-9474980 chr18:9474832-9474841 chr18:9475759-9475768 chr18:9475295-9475304 chr18:9475214-9475223 chr18:9475754-9475766 chr18:9475491-9475500 chr18:9476161-9476168 chr18:9476023-9476033
13	POLR2A	chr18:9474322-9474403	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr18:9474343-9476175	HUVEC	blood vessel:	n/a	n/a
15	POLR2A	chr18:9473953-9476669	MCF10A-Er-Src	breast:	n/a	n/a
16	REST	chr18:9474335-9476135	H1-neurons	neurons:	n/a	chr18:9474824-9474837 chr18:9475550-9475563
17	POLR2A	chr18:9474098-9476173	MCF-7	breast:	n/a	n/a
18	POLR2A	chr18:9474132-9476809	GM12891	blood:	n/a	n/a
19	POLR2A	chr18:9474137-9474413	Gliobla	brain:	n/a	n/a
20	POLR2A	chr18:9474286-9476222	GM12892	blood:	n/a	n/a
21	POLR2A	chr18:9474113-9476480	K562	blood:	n/a	n/a
22	ZNF263	chr18:9474192-9476138	K562	blood:	n/a	chr18:9475477-9475486
23	POLR2A	chr18:9473877-9476234	SK-N-MC	brain:	n/a	n/a
24	POLR2A	chr18:9474133-9474627	K562	blood:	n/a	n/a
25	POLR2A	chr18:9474065-9476213	K562	blood:	n/a	n/a
26	POLR2A	chr18:9474168-9475780	HCT-116	colon:	n/a	n/a
27	POLR2A	chr18:9473932-9474475	GM12878	blood:	n/a	n/a
28	POLR2A	chr18:9473937-9476051	ECC-1	luminal epithelium:	n/a	n/a
29	POLR2A	chr18:9474114-9476122	MCF-7	breast:	n/a	n/a
30	POLR2A	chr18:9473924-9476068	HepG2	liver:	n/a	n/a
31	POLR2A	chr18:9474222-9475986	SK-N-SH	brain:	n/a	n/a
32	POLR2A	chr18:9473983-9476261	Raji	blood:	n/a	n/a
33	POLR2A	chr18:9474319-9475233	K562	blood:	n/a	n/a
34	MTA3	chr18:9474346-9475384	GM12878	blood:	n/a	n/a
35	POLR2A	chr18:9474108-9476262	H1-hESC	embryonic stem cell:	n/a	n/a
36	CTCF	chr18:9474240-9474390	WERI-Rb-1	eye:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr18:9333428..9336571-chr18:9474335..9476989,6	MCF-7	breast:
2	chr18:9331992..9337338-chr18:9472584..9477624,6	MCF-7	breast:
3	chr18:9334546..9336965-chr18:9474025..9476757,3	K562	blood:

Variant related genes	Relation type
ENSG00000273335	TF binding region
RALBP1	TF binding region
ENSG00000264964	Chromatin interaction
ENSG00000128791	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs73393859	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs8094568	1.00[EUR][1000 genomes]
rs9955718	1.00[EUR][1000 genomes]
rs9960681	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916373	chr18:9026803-9592201	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv1056407	chr18:9144345-9553764	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv1062025	chr18:9287249-9552470	Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv543643	chr18:9287249-9552470	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv833585	chr18:9401630-9597291	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	nsv428005	chr18:9401658-9542396	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9473600-9474400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr18:9473800-9474400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr18:9473800-9474400	Enhancers	Fetal Muscle Leg	muscle
4	chr18:9473800-9474400	Enhancers	Placenta Amnion	Placenta Amnion
5	chr18:9473800-9474600	Flanking Active TSS	Fetal Kidney	kidney
6	chr18:9474000-9474400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr18:9474000-9474400	Enhancers	Primary hematopoietic stem cells short term culture	blood
8	chr18:9474000-9474400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr18:9474000-9474400	Enhancers	Duodenum Smooth Muscle	Duodenum
10	chr18:9474000-9474400	Enhancers	Fetal Lung	lung
11	chr18:9474000-9474400	Enhancers	Placenta	Placenta
12	chr18:9474000-9474400	Flanking Bivalent TSS/Enh	HepG2	liver
13	chr18:9474000-9474400	Enhancers	HUVEC	blood vessel
14	chr18:9474000-9474400	Enhancers	NHDF-Ad	bronchial
15	chr18:9474000-9474600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr18:9474000-9474600	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr18:9474000-9474600	Enhancers	Primary B cells from cord blood	blood
18	chr18:9474000-9474600	Enhancers	Gastric	stomach
19	chr18:9474000-9474600	Enhancers	Sigmoid Colon	Sigmoid Colon
20	chr18:9474000-9474800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr18:9474000-9474800	ZNF genes & repeats	Lung	lung
22	chr18:9474000-9475000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
23	chr18:9474000-9476400	Active TSS	ES-I3 Cell Line	embryonic stem cell
24	chr18:9474000-9476400	Active TSS	iPS-15b Cell Line	embryonic stem cell
25	chr18:9474000-9477000	Active TSS	HUES6 Cell Line	embryonic stem cell
26	chr18:9474000-9477000	Active TSS	Right Ventricle	heart
27	chr18:9474200-9474400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr18:9474200-9474400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr18:9474200-9474400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr18:9474200-9474400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
31	chr18:9474200-9474400	Enhancers	Primary T cells from cord blood	blood
32	chr18:9474200-9474400	Enhancers	Primary hematopoietic stem cells	blood
33	chr18:9474200-9474400	Enhancers	Brain Angular Gyrus	brain
34	chr18:9474200-9474400	Enhancers	Brain Cingulate Gyrus	brain
35	chr18:9474200-9474400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
36	chr18:9474200-9474400	Flanking Active TSS	Colonic Mucosa	Colon
37	chr18:9474200-9474400	Enhancers	Colon Smooth Muscle	Colon
38	chr18:9474200-9474400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr18:9474200-9474400	Enhancers	Fetal Brain Male	brain
40	chr18:9474200-9474400	Enhancers	Fetal Muscle Trunk	muscle
41	chr18:9474200-9474400	Enhancers	Fetal Thymus	thymus
42	chr18:9474200-9474400	Enhancers	Left Ventricle	heart
43	chr18:9474200-9474400	Enhancers	Ovary	ovary
44	chr18:9474200-9474400	Enhancers	Psoas Muscle	Psoas
45	chr18:9474200-9474400	Enhancers	Right Atrium	heart
46	chr18:9474200-9474400	Flanking Active TSS	Spleen	Spleen
47	chr18:9474200-9474400	Enhancers	A549	lung
48	chr18:9474200-9474400	Enhancers	GM12878-XiMat	blood
49	chr18:9474200-9474400	Enhancers	Monocytes-CD14+_RO01746	blood
50	chr18:9474200-9474600	Flanking Active TSS	H1 Cell Line	embryonic stem cell

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