Variant report

Variant	rs55680369
Chromosome Location	chr18:9737680-9737681
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	FOS	chr18:9737503-9737703	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr18:9737204-9738978	Hela-S3	cervix:	n/a	n/a
3	NFIC	chr18:9736753-9738325	ECC-1	luminal epithelium:	n/a	chr18:9737966-9737983
4	FOS	chr18:9736901-9737807	HUVEC	blood vessel:	n/a	chr18:9737165-9737174 chr18:9737094-9737104 chr18:9737095-9737103 chr18:9737094-9737104 chr18:9737093-9737104 chr18:9737094-9737104
5	STAT3	chr18:9737549-9737739	MCF10A-Er-Src	breast:	n/a	n/a
6	SMC3	chr18:9736994-9737746	Hela-S3	cervix:	n/a	chr18:9737656-9737670
7	GATA3	chr18:9737097-9737737	SH-SY5Y	brain:	n/a	n/a
8	FOS	chr18:9737536-9737708	MCF10A-Er-Src	breast:	n/a	n/a
9	EP300	chr18:9736963-9737844	SK-N-SH	brain:	n/a	n/a
10	NFIC	chr18:9736787-9738182	SK-N-SH	brain:	n/a	chr18:9737966-9737983
11	JUND	chr18:9736763-9737908	HCT-116	colon:	n/a	chr18:9737165-9737174 chr18:9737094-9737104 chr18:9737093-9737104 chr18:9737095-9737103 chr18:9737094-9737104 chr18:9737094-9737104
12	POLR2A	chr18:9737178-9738333	H1-neurons	neurons:	n/a	n/a
13	EP300	chr18:9737408-9737789	SK-N-SH_RA	brain:	n/a	n/a
14	MYC	chr18:9737031-9737747	Hela-S3	cervix:	n/a	n/a
15	EP300	chr18:9737429-9737852	SK-N-SH_RA	brain:	n/a	n/a
16	GATA1	chr18:9737368-9737824	PBDE	blood:	n/a	n/a
17	POLR2A	chr18:9737408-9737800	U87	brain:	n/a	n/a
18	TCF12	chr18:9736813-9737971	SK-N-SH	brain:	n/a	chr18:9737660-9737667
19	KAP1	chr18:9737537-9737861	U2OS	brain:	n/a	n/a
20	USF2	chr18:9737071-9737763	Hela-S3	cervix:	n/a	n/a
21	POLR2A	chr18:9737559-9737752	MCF10A-Er-Src	breast:	n/a	n/a
22	RAD21	chr18:9737469-9737718	SK-N-SH_RA	brain:	n/a	n/a
23	EP300	chr18:9736819-9737724	Hela-S3	cervix:	n/a	n/a
24	NFIC	chr18:9737532-9738336	ECC-1	luminal epithelium:	n/a	chr18:9737966-9737983
25	PBX3	chr18:9737405-9737904	SK-N-SH	brain:	n/a	n/a
26	SP1	chr18:9736652-9737945	HCT-116	colon:	n/a	chr18:9737860-9737874 chr18:9737860-9737870 chr18:9737861-9737870
27	POLR2A	chr18:9737404-9737768	Hela-S3	cervix:	n/a	n/a
28	PBX3	chr18:9736846-9737990	SK-N-SH	brain:	n/a	n/a
29	MAZ	chr18:9737505-9737683	K562	blood:	n/a	n/a
30	MAX	chr18:9736953-9737720	Hela-S3	cervix:	n/a	n/a
31	STAT3	chr18:9737531-9737739	MCF10A-Er-Src	breast:	n/a	n/a
32	GATA3	chr18:9736958-9737825	SK-N-SH	brain:	n/a	n/a
33	MAFK	chr18:9737531-9737857	IMR90	lung:	n/a	n/a
34	REST	chr18:9737189-9738508	H1-neurons	neurons:	n/a	chr18:9738083-9738096
35	SP1	chr18:9736773-9737829	HCT-116	colon:	n/a	n/a
36	JUND	chr18:9736819-9737828	HCT-116	colon:	n/a	chr18:9737165-9737174 chr18:9737094-9737104 chr18:9737093-9737104 chr18:9737095-9737103 chr18:9737094-9737104 chr18:9737094-9737104
37	POLR2A	chr18:9737130-9738238	H1-neurons	neurons:	n/a	n/a
38	POLR2A	chr18:9737435-9738246	Hela-S3	cervix:	n/a	n/a
39	MXI1	chr18:9736973-9738033	Hela-S3	cervix:	n/a	chr18:9738007-9738022
40	POLR2A	chr18:9737451-9737742	Hela-S3	cervix:	n/a	n/a
41	GATA3	chr18:9736787-9737812	SK-N-SH	brain:	n/a	n/a
42	BRCA1	chr18:9736972-9737695	Hela-S3	cervix:	n/a	n/a
43	MXI1	chr18:9736517-9738480	SK-N-SH	brain:	n/a	chr18:9738007-9738022
44	GATA2	chr18:9736970-9738261	SH-SY5Y	brain:	n/a	n/a
45	FOSL1	chr18:9736802-9737904	HCT-116	colon:	n/a	chr18:9737165-9737174 chr18:9737094-9737104 chr18:9737095-9737103 chr18:9737094-9737104 chr18:9737094-9737104
46	MAX	chr18:9737007-9737940	Hela-S3	cervix:	n/a	n/a
47	POLR2A	chr18:9737420-9738202	PANC-1	pancreas:	n/a	n/a
48	TCF12	chr18:9736795-9737982	SK-N-SH	brain:	n/a	chr18:9737660-9737667
49	POLR2A	chr18:9737408-9737877	U87	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr18:9729977..9732363-chr18:9736076..9738705,2	MCF-7	breast:
2	chr18:9734405..9736232-chr18:9736373..9737976,2	MCF-7	breast:
3	chr18:9703929..9707573-chr18:9737119..9740388,3	K562	blood:
4	chr18:9729801..9734726-chr18:9735904..9739407,5	K562	blood:
5	chr18:9733101..9737818-chr18:9912631..9916013,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000266891	TF binding region
ENSG00000266891	Chromatin interaction
ENSG00000272799	Chromatin interaction
ENSG00000101558	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs17431841	1.00[ASN][1000 genomes]
rs62078950	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7235767	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv458024	chr18:9558240-9828448	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats 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	33 gene(s)	inside rSNPs	diseases
2	nsv576448	chr18:9558240-9828448	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	nsv469897	chr18:9674498-9870517	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
4	nsv482461	chr18:9674498-9870517	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv1064807	chr18:9695356-9770358	Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9720000-9742000	Weak transcription	Rectal Smooth Muscle	rectum
2	chr18:9721000-9741600	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr18:9732600-9741600	Weak transcription	Ovary	ovary
4	chr18:9732800-9740800	Weak transcription	Adipose Nuclei	Adipose
5	chr18:9732800-9741600	Weak transcription	Colon Smooth Muscle	Colon
6	chr18:9733000-9742000	Weak transcription	Aorta	Aorta
7	chr18:9733000-9743600	Weak transcription	Gastric	stomach
8	chr18:9733800-9742000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr18:9734400-9741600	Weak transcription	Right Atrium	heart
10	chr18:9734400-9741800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr18:9734400-9741800	Weak transcription	Fetal Lung	lung
12	chr18:9734600-9738000	Weak transcription	Fetal Muscle Trunk	muscle
13	chr18:9734600-9739600	Weak transcription	Esophagus	oesophagus
14	chr18:9734600-9741600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr18:9734600-9741600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr18:9734600-9741600	Weak transcription	Spleen	Spleen
17	chr18:9734600-9741800	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr18:9734800-9741400	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr18:9734800-9742000	Weak transcription	Stomach Mucosa	stomach
20	chr18:9734800-9742200	Weak transcription	Primary hematopoietic stem cells	blood
21	chr18:9735000-9741600	Weak transcription	Colonic Mucosa	Colon
22	chr18:9735400-9740400	Genic enhancers	Hela-S3	cervix
23	chr18:9735600-9737800	Weak transcription	Fetal Intestine Large	intestine
24	chr18:9735600-9738000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr18:9735600-9740800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr18:9735600-9741400	Weak transcription	Lung	lung
27	chr18:9735600-9741800	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr18:9735800-9738000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr18:9735800-9740800	Weak transcription	Placenta	Placenta
30	chr18:9736000-9741600	Weak transcription	Fetal Muscle Leg	muscle
31	chr18:9736000-9741800	Weak transcription	Fetal Stomach	stomach
32	chr18:9736200-9737800	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr18:9736200-9738400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr18:9736200-9739400	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr18:9736200-9739600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr18:9736200-9740200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr18:9736200-9741600	Weak transcription	Primary B cells from cord blood	blood
38	chr18:9736200-9742000	Weak transcription	Fetal Thymus	thymus
39	chr18:9736400-9738000	Weak transcription	Stomach Smooth Muscle	stomach
40	chr18:9736400-9738200	Enhancers	Fetal Intestine Small	intestine
41	chr18:9736400-9738200	Enhancers	HMEC	breast
42	chr18:9736400-9738400	Enhancers	NHDF-Ad	bronchial
43	chr18:9736400-9738600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr18:9736400-9738800	Enhancers	Fetal Brain Male	brain
45	chr18:9736400-9739000	Enhancers	Primary neutrophils fromperipheralblood	blood
46	chr18:9736600-9738000	Enhancers	Muscle Satellite Cultured Cells	--
47	chr18:9736600-9738200	Weak transcription	Primary monocytes fromperipheralblood	blood
48	chr18:9736600-9738400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr18:9736600-9741400	Weak transcription	HepG2	liver
50	chr18:9736600-9741800	Weak transcription	Duodenum Smooth Muscle	Duodenum

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