Variant report

Variant	rs373220220
Chromosome Location	chr18:12658720-12658721
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	CTCF	chr18:12658600-12658750	AG09309	skin:	n/a	n/a
2	REST	chr18:12656487-12659001	H1-neurons	neurons:	n/a	chr18:12657226-12657239 chr18:12657214-12657227 chr18:12657237-12657257 chr18:12657223-12657232 chr18:12657237-12657257 chr18:12657238-12657256 chr18:12657344-12657357
3	NR2F2	chr18:12658059-12658894	MCF-7	breast:	n/a	n/a
4	CTCF	chr18:12658700-12658850	MCF-7	breast:	n/a	n/a
5	ELF1	chr18:12657699-12658852	GM12878	blood:	n/a	n/a
6	RAD21	chr18:12658513-12658837	IMR90	lung:	n/a	chr18:12658757-12658769
7	CCNT2	chr18:12658646-12658735	K562	blood:	n/a	n/a
8	MXI1	chr18:12657915-12658827	Hela-S3	cervix:	n/a	n/a
9	ZNF143	chr18:12658556-12658755	H1-hESC	embryonic stem cell:	n/a	n/a
10	CTCF	chr18:12658600-12658750	HRE	kidney:	n/a	n/a
11	CTCF	chr18:12658640-12658790	HCM	heart:	n/a	n/a
12	SIN3A	chr18:12657617-12658947	H1-hESC	embryonic stem cell:	n/a	chr18:12657869-12657880 chr18:12657876-12657889
13	CTCF	chr18:12658700-12658850	BJ	skin:	n/a	n/a
14	CTCF	chr18:12658680-12658830	GM06990	blood:	n/a	n/a
15	HA-E2F1	chr18:12658453-12658905	MCF-7	breast:	n/a	chr18:12658504-12658518
16	CTCF	chr18:12658720-12658870	HVMF	connective:	n/a	n/a
17	MAX	chr18:12656928-12658839	MCF-7	breast:	n/a	chr18:12658406-12658415
18	CTCF	chr18:12658720-12658870	MCF-7	breast:	n/a	n/a
19	TFAP2C	chr18:12657624-12658900	Hela-S3	cervix:	n/a	n/a
20	CTCF	chr18:12658660-12658810	AG04449	skin:	n/a	n/a
21	CTCF	chr18:12658700-12658850	HCFaa	heart:	n/a	n/a
22	RAD21	chr18:12658547-12658905	H1-hESC	embryonic stem cell:	n/a	chr18:12658757-12658769
23	CTCF	chr18:12658620-12658770	HRPEpiC	eye:	n/a	n/a
24	CTCF	chr18:12658700-12658850	HRPEpiC	eye:	n/a	n/a
25	BACH1	chr18:12658233-12658814	H1-hESC	embryonic stem cell:	n/a	n/a
26	SMARCB1	chr18:12656949-12658763	Hela-S3	cervix:	n/a	n/a
27	CTCF	chr18:12658600-12658750	HMEC	breast:	n/a	n/a
28	ZNF263	chr18:12657645-12659434	HEK293-T-REx	kidney:	n/a	chr18:12659328-12659349 chr18:12659330-12659339
29	HA-E2F1	chr18:12657083-12658728	Hela-S3	cervix:	n/a	chr18:12658504-12658518
30	MAZ	chr18:12656513-12658995	IMR90	lung:	n/a	chr18:12658406-12658415
31	CTCF	chr18:12658660-12658810	HMF	breast:	n/a	n/a
32	CTCF	chr18:12658660-12658810	HMEC	breast:	n/a	n/a
33	ZKSCAN1	chr18:12658581-12658800	Hela-S3	cervix:	n/a	n/a
34	CTCF	chr18:12658640-12658790	AG04450	lung:	n/a	n/a
35	CTCF	chr18:12658640-12658790	AG10803	skin:	n/a	n/a
36	ZBTB7A	chr18:12657936-12658827	ECC-1	luminal epithelium:	n/a	n/a
37	CTCF	chr18:12658700-12658850	HPAF	blood vessel:	n/a	n/a
38	MAX	chr18:12657946-12658782	H1-hESC	embryonic stem cell:	n/a	chr18:12658406-12658415
39	RCOR1	chr18:12657884-12658800	Hela-S3	cervix:	n/a	n/a
40	CTCF	chr18:12658700-12658850	AG04450	lung:	n/a	n/a
41	POLR2A	chr18:12657698-12658766	Hela-S3	cervix:	n/a	n/a
42	RAD21	chr18:12658583-12658950	SK-N-SH_RA	brain:	n/a	chr18:12658757-12658769
43	CTCF	chr18:12658660-12658810	HFF-Myc	foreskin:	n/a	n/a
44	MAX	chr18:12656951-12658821	Hela-S3	cervix:	n/a	chr18:12658406-12658415
45	RAD21	chr18:12658041-12658951	H1-hESC	embryonic stem cell:	n/a	chr18:12658757-12658769
46	CTCF	chr18:12658660-12658810	HBMEC	blood vessel:	n/a	n/a
47	CHD1	chr18:12656380-12659102	IMR90	lung:	n/a	n/a
48	CTBP2	chr18:12657860-12658806	H1-hESC	embryonic stem cell:	n/a	n/a
49	CTCF	chr18:12658680-12658830	HPAF	blood vessel:	n/a	n/a
50	CTCF	chr18:12658640-12658790	HAc	cerebellar:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr18:12374049..12378632-chr18:12655494..12660049,8	K562	blood:
2	chr18:12656018..12659900-chr18:12701056..12705601,5	K562	blood:
3	chr18:12406559..12410304-chr18:12656888..12659730,4	MCF-7	breast:
4	chr18:12654302..12656873-chr18:12657659..12659911,2	MCF-7	breast:
5	chr18:12418998..12421842-chr18:12658407..12660489,3	MCF-7	breast:
6	chr18:12418519..12420831-chr18:12657213..12660140,3	MCF-7	breast:
7	chr18:12657668..12659639-chr18:12701302..12703566,3	MCF-7	breast:
8	chr18:12372972..12377735-chr18:12656683..12660675,6	K562	blood:
9	chr18:12648702..12654959-chr18:12655130..12658770,8	K562	blood:
10	chr18:12435991..12438957-chr18:12658317..12660163,2	MCF-7	breast:
11	chr18:12375564..12378929-chr18:12655169..12659722,7	MCF-7	breast:
12	chr18:12404079..12409500-chr18:12655702..12659746,9	K562	blood:
13	chr18:12657085..12659648-chr18:12882376..12884207,2	K562	blood:
14	chr18:12649857..12654959-chr18:12655130..12658770,11	K562	blood:

Variant related genes	Relation type
SPIRE1	TF binding region
PSMG2	TF binding region
ENSG00000134278	Chromatin interaction
ENSG00000175354	Chromatin interaction
ENSG00000141385	Chromatin interaction
ENSG00000101624	Chromatin interaction
ENSG00000141391	Chromatin interaction
ENSG00000128789	Chromatin interaction
ENSG00000267199	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:14 , 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	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
4	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
5	nsv523743	chr18:12474505-12742809	Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
6	esv1820040	chr18:12635601-12725236	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
7	esv1817845	chr18:12635601-12733705	Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
8	esv1821625	chr18:12635601-12733705	Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
9	esv1791969	chr18:12643193-12697711	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
10	esv3397790	chr18:12649001-12673755	Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
11	esv3436179	chr18:12655852-12660050	Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
12	esv3323207	chr18:12656377-12658925	Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
13	esv3424423	chr18:12656602-12659250	Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
14	nsv576507	chr18:12657195-12673187	Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12653800-12670400	Weak transcription	Dnd41	blood
2	chr18:12655400-12658800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr18:12655400-12659000	Active TSS	Brain Angular Gyrus	brain
4	chr18:12655400-12659000	Active TSS	Brain Inferior Temporal Lobe	brain
5	chr18:12655400-12659600	Active TSS	Fetal Brain Female	brain
6	chr18:12655800-12659000	Active TSS	NHLF	lung
7	chr18:12656000-12658800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr18:12656000-12659000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr18:12656000-12659000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr18:12656000-12659000	Active TSS	HSMM	muscle
11	chr18:12656000-12659200	Active TSS	HSMMtube	muscle
12	chr18:12656200-12659400	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr18:12656400-12658800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
14	chr18:12656400-12658800	Active TSS	NHDF-Ad	bronchial
15	chr18:12656400-12659000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr18:12656400-12659000	Active TSS	Stomach Smooth Muscle	stomach
17	chr18:12656400-12659000	Active TSS	A549	lung
18	chr18:12656600-12658800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr18:12656600-12658800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr18:12656600-12658800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr18:12656600-12658800	Active TSS	Psoas Muscle	Psoas
22	chr18:12656600-12659000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
23	chr18:12656600-12659000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr18:12656600-12659000	Active TSS	Breast Myoepithelial Primary Cells	Breast
25	chr18:12656600-12659000	Active TSS	Muscle Satellite Cultured Cells	--
26	chr18:12656600-12659000	Active TSS	Fetal Muscle Trunk	muscle
27	chr18:12656600-12659000	Active TSS	Fetal Muscle Leg	muscle
28	chr18:12656600-12659000	Active TSS	Right Ventricle	heart
29	chr18:12656600-12659200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr18:12656800-12658800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr18:12656800-12658800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr18:12656800-12658800	Active TSS	Brain Anterior Caudate	brain
33	chr18:12656800-12658800	Active TSS	Brain Cingulate Gyrus	brain
34	chr18:12656800-12658800	Active TSS	Esophagus	oesophagus
35	chr18:12656800-12658800	Active TSS	Fetal Kidney	kidney
36	chr18:12656800-12658800	Active TSS	Rectal Smooth Muscle	rectum
37	chr18:12656800-12658800	Active TSS	Hela-S3	cervix
38	chr18:12656800-12659000	Active TSS	Brain Substantia Nigra	brain
39	chr18:12656800-12659000	Active TSS	Fetal Stomach	stomach
40	chr18:12656800-12659000	Active TSS	Left Ventricle	heart
41	chr18:12656800-12659000	Active TSS	Ovary	ovary
42	chr18:12656800-12659200	Active TSS	H9 Cell Line	embryonic stem cell
43	chr18:12657000-12658800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr18:12657000-12658800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
45	chr18:12657000-12658800	Active TSS	Fetal Lung	lung
46	chr18:12657000-12658800	Active TSS	Gastric	stomach
47	chr18:12657000-12659000	Active TSS	Brain Hippocampus Middle	brain
48	chr18:12657000-12659000	Active TSS	Colon Smooth Muscle	Colon
49	chr18:12657000-12659000	Active TSS	Duodenum Smooth Muscle	Duodenum
50	chr18:12657000-12659200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links