Variant report

Variant	rs369633131
Chromosome Location	chr18:12420942-12420943
allele	-/C
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	chr18:12420800-12421211	GM12891	blood:	n/a	n/a
2	CEBPD	chr18:12420920-12421405	HepG2	liver:	n/a	n/a
3	POLR2A	chr18:12420875-12421414	GM12891	blood:	n/a	n/a
4	EP300	chr18:12420844-12421324	H1-hESC	embryonic stem cell:	n/a	chr18:12421158-12421174
5	TAF1	chr18:12420906-12421194	GM12878	blood:	n/a	n/a
6	MAX	chr18:12420742-12421456	H1-hESC	embryonic stem cell:	n/a	chr18:12420853-12420862
7	HEY1	chr18:12420783-12421466	HepG2	liver:	n/a	n/a
8	RUNX3	chr18:12420823-12421341	GM12878	blood:	n/a	n/a
9	JUND	chr18:12420896-12421310	H1-hESC	embryonic stem cell:	n/a	chr18:12421141-12421151
10	YY1	chr18:12420832-12421263	H1-hESC	embryonic stem cell:	n/a	chr18:12420956-12420970
11	POLR2A	chr18:12420823-12421488	HepG2	liver:	n/a	n/a
12	RAD21	chr18:12420870-12421457	H1-hESC	embryonic stem cell:	n/a	chr18:12421170-12421184 chr18:12421162-12421175 chr18:12421155-12421169 chr18:12421181-12421191
13	POLR2A	chr18:12419807-12421462	HepG2	liver:	n/a	n/a
14	POLR2A	chr18:12419707-12421427	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr18:12420804-12421243	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr18:12420799-12421223	GM12878	blood:	n/a	n/a
17	JUND	chr18:12420902-12421392	H1-hESC	embryonic stem cell:	n/a	chr18:12421141-12421151
18	HDAC2	chr18:12420825-12421483	HepG2	liver:	n/a	n/a
19	POLR2A	chr18:12420764-12421325	GM12892	blood:	n/a	n/a
20	POLR2A	chr18:12420809-12421705	HepG2	liver:	n/a	n/a
21	POLR2A	chr18:12420782-12421255	GM12878	blood:	n/a	n/a
22	BHLHE40	chr18:12420897-12421455	HepG2	liver:	n/a	n/a
23	POU2F2	chr18:12420912-12421244	GM12891	blood:	n/a	chr18:12421051-12421069 chr18:12421056-12421066 chr18:12421056-12421065 chr18:12421053-12421067 chr18:12421054-12421067 chr18:12421056-12421066 chr18:12421198-12421210 chr18:12421055-12421067 chr18:12421057-12421064
24	POLR2A	chr18:12420791-12421609	SK-N-MC	brain:	n/a	n/a
25	EP300	chr18:12420803-12421388	H1-hESC	embryonic stem cell:	n/a	chr18:12421158-12421174
26	CHD2	chr18:12420864-12421173	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr18:12420800-12421201	HepG2	liver:	n/a	n/a
28	POLR2A	chr18:12420813-12421431	NB4	blood:	n/a	n/a
29	ELF1	chr18:12420843-12421443	GM12878	blood:	n/a	n/a
30	POLR2A	chr18:12420764-12421549	HepG2	liver:	n/a	n/a
31	MAZ	chr18:12420936-12421331	GM12878	blood:	n/a	n/a
32	POLR2A	chr18:12419541-12421789	HepG2	liver:	n/a	n/a
33	HEY1	chr18:12420755-12421573	HepG2	liver:	n/a	n/a
34	SIN3A	chr18:12420901-12421474	H1-hESC	embryonic stem cell:	n/a	chr18:12421255-12421266
35	ZNF263	chr18:12420859-12421293	HEK293-T-REx	kidney:	n/a	n/a
36	TAF1	chr18:12420806-12421395	HepG2	liver:	n/a	n/a
37	TAF1	chr18:12420802-12421425	H1-hESC	embryonic stem cell:	n/a	n/a
38	TBP	chr18:12420815-12421468	H1-hESC	embryonic stem cell:	n/a	n/a
39	CTCF	chr18:12420940-12421090	SK-N-SH_RA	brain:	n/a	n/a
40	POLR2A	chr18:12420785-12421368	H1-hESC	embryonic stem cell:	n/a	n/a
41	POLR2A	chr18:12420759-12421541	H1-hESC	embryonic stem cell:	n/a	n/a
42	CTCF	chr18:12420822-12421303	H1-hESC	embryonic stem cell:	n/a	chr18:12421108-12421116 chr18:12421161-12421174 chr18:12421101-12421119
43	POLR2A	chr18:12420800-12421242	GM12878	blood:	n/a	n/a
44	MAX	chr18:12420791-12421375	H1-hESC	embryonic stem cell:	n/a	chr18:12420853-12420862
45	YY1	chr18:12420816-12421485	HepG2	liver:	n/a	chr18:12420956-12420970
46	TBP	chr18:12420873-12421472	HepG2	liver:	n/a	n/a
47	TAF7	chr18:12420818-12421410	H1-hESC	embryonic stem cell:	n/a	n/a
48	GTF2F1	chr18:12420840-12421180	H1-hESC	embryonic stem cell:	n/a	n/a
49	POLR2A	chr18:12420800-12421443	HepG2	liver:	n/a	n/a
50	TAF1	chr18:12420794-12421160	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr18:12418998..12421842-chr18:12658407..12660489,3	MCF-7	breast:
2	chr18:12406749..12409861-chr18:12418820..12421803,8	MCF-7	breast:
3	chr18:12407594..12413164-chr18:12414407..12422412,12	MCF-7	breast:
4	chr18:12375743..12378274-chr18:12418543..12422031,3	MCF-7	breast:

Variant related genes	Relation type
SLMO1	TF binding region
ENSG00000128789	Chromatin interaction
ENSG00000141391	Chromatin interaction
ENSG00000141385	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1063125	chr18:12046892-12918251	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	130 gene(s)	inside rSNPs	diseases
2	nsv491873	chr18:12159445-12739784	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
3	nsv909400	chr18:12201374-12585545	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
4	esv2758471	chr18:12240681-12499525	Flanking Active TSS Strong transcription ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
5	esv2758714	chr18:12240681-12499525	Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
6	nsv576496	chr18:12247872-12490502	Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
7	nsv1060808	chr18:12302792-12514417	Genic enhancers Weak transcription Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
8	esv3528039	chr18:12396582-12851293	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
9	esv3528041	chr18:12396641-12851245	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
10	nsv909404	chr18:12409955-12438402	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
11	nsv9610	chr18:12417586-12424527	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
12	nsv519557	chr18:12417905-12431506	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
13	esv3338945	chr18:12419177-12422125	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
14	esv3428897	chr18:12419827-12421825	Genic enhancers Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
15	esv3436965	chr18:12420352-12421500	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 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	chr18:12410400-12430400	Weak transcription	A549	lung
2	chr18:12418200-12430400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr18:12419600-12421000	Active TSS	Brain Hippocampus Middle	brain
4	chr18:12419600-12421000	Active TSS	Fetal Brain Female	brain
5	chr18:12419800-12421000	Active TSS	H1 Cell Line	embryonic stem cell
6	chr18:12419800-12421000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr18:12419800-12421000	Active TSS	Cortex derived primary cultured neurospheres	brain
8	chr18:12419800-12421000	Active TSS	Brain Anterior Caudate	brain
9	chr18:12419800-12421000	Active TSS	Brain Inferior Temporal Lobe	brain
10	chr18:12419800-12421000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
11	chr18:12419800-12421000	Active TSS	Brain Substantia Nigra	brain
12	chr18:12419800-12421000	Active TSS	Duodenum Smooth Muscle	Duodenum
13	chr18:12419800-12421000	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr18:12419800-12421000	Active TSS	Ovary	ovary
15	chr18:12419800-12421000	Active TSS	Right Atrium	heart
16	chr18:12419800-12421000	Active TSS	GM12878-XiMat	blood
17	chr18:12419800-12421200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr18:12419800-12421200	Active TSS	HUES6 Cell Line	embryonic stem cell
19	chr18:12419800-12421200	Active TSS	HUES64 Cell Line	embryonic stem cell
20	chr18:12419800-12421200	Active TSS	iPS-18 Cell Line	embryonic stem cell
21	chr18:12419800-12421200	Active TSS	Rectal Smooth Muscle	rectum
22	chr18:12419800-12421400	Active TSS	HUES48 Cell Line	embryonic stem cell
23	chr18:12419800-12421400	Active TSS	iPS-15b Cell Line	embryonic stem cell
24	chr18:12419800-12421400	Active TSS	iPS-20b Cell Line	embryonic stem cell
25	chr18:12419800-12421400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr18:12419800-12421400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr18:12419800-12421400	Active TSS	Fetal Intestine Small	intestine
28	chr18:12419800-12421400	Active TSS	NH-A	brain
29	chr18:12419800-12421600	Active TSS	H9 Cell Line	embryonic stem cell
30	chr18:12420000-12421000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
31	chr18:12420000-12421000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr18:12420000-12421000	Active TSS	Brain Angular Gyrus	brain
33	chr18:12420000-12421000	Active TSS	HepG2	liver
34	chr18:12420000-12421400	Active TSS	ES-I3 Cell Line	embryonic stem cell
35	chr18:12420000-12421400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr18:12420200-12421000	Active TSS	Brain Cingulate Gyrus	brain
37	chr18:12420200-12421000	Weak transcription	Fetal Brain Male	brain
38	chr18:12420200-12421400	Active TSS	Osteobl	bone
39	chr18:12420200-12434800	Weak transcription	Stomach Mucosa	stomach
40	chr18:12420400-12421000	Active TSS	Primary hematopoietic stem cells	blood
41	chr18:12420400-12421000	Active TSS	Brain Germinal Matrix	brain
42	chr18:12420400-12421000	Active TSS	Colonic Mucosa	Colon
43	chr18:12420400-12421000	Weak transcription	Fetal Kidney	kidney
44	chr18:12420400-12421200	Enhancers	Primary neutrophils fromperipheralblood	blood
45	chr18:12420400-12421200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr18:12420400-12421200	Weak transcription	Fetal Heart	heart
47	chr18:12420400-12421200	Enhancers	Placenta Amnion	Placenta Amnion
48	chr18:12420400-12421400	Enhancers	Primary monocytes fromperipheralblood	blood
49	chr18:12420400-12421400	Enhancers	Placenta	Placenta
50	chr18:12420400-12426800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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