Variant report

Variant	rs7241755
Chromosome Location	chr18:13112991-13112992
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	RAD21	chr18:13112928-13113465	ECC-1	luminal epithelium:	n/a	chr18:13113215-13113234
2	CTCF	chr18:13112980-13113350	H1-hESC	embryonic stem cell:	n/a	chr18:13113214-13113232 chr18:13113216-13113237
3	CTCF	chr18:13112961-13113508	MCF-7	breast:	n/a	chr18:13113214-13113232 chr18:13113216-13113237
4	RAD21	chr18:13112968-13113458	A549	lung:	n/a	chr18:13113215-13113234
5	MXI1	chr18:13112266-13113657	SK-N-SH	brain:	n/a	n/a
6	CTCF	chr18:13112959-13113364	MCF-7	breast:	n/a	chr18:13113214-13113232 chr18:13113216-13113237
7	RAD21	chr18:13112950-13113434	MCF-7	breast:	n/a	chr18:13113215-13113234
8	CTCF	chr18:13112960-13113349	HepG2	liver:	n/a	chr18:13113214-13113232 chr18:13113216-13113237
9	POLR2A	chr18:13108117-13116498	K562	blood:	n/a	n/a
10	RAD21	chr18:13112964-13113453	MCF-7	breast:	n/a	chr18:13113215-13113234
11	RAD21	chr18:13112955-13113462	H1-hESC	embryonic stem cell:	n/a	chr18:13113215-13113234
12	MAZ	chr18:13112953-13113300	HepG2	liver:	n/a	n/a
13	CTCF	chr18:13112899-13113465	A549	lung:	n/a	chr18:13113214-13113232 chr18:13113216-13113237
14	RAD21	chr18:13112936-13113434	HepG2	liver:	n/a	chr18:13113215-13113234
15	SMC3	chr18:13112917-13113791	SK-N-SH	brain:	n/a	chr18:13113216-13113230
16	RAD21	chr18:13112471-13113683	SK-N-SH	brain:	n/a	chr18:13113215-13113234
17	RAD21	chr18:13112962-13113402	H1-hESC	embryonic stem cell:	n/a	chr18:13113215-13113234
18	CTCF	chr18:13112557-13113809	SK-N-SH	brain:	n/a	chr18:13113214-13113232 chr18:13112668-13112677 chr18:13113216-13113237
19	EP300	chr18:13112979-13113255	SK-N-SH_RA	brain:	n/a	chr18:13113143-13113152

No.	Distal block	Cell Line	Cell type
1	chr18:13112880..13113643-chr18:13202300..13202873,2	MCF-7	breast:
2	chr18:13111443..13113180-chr18:13117061..13119262,2	MCF-7	breast:
3	chr18:13112790..13113500-chr18:13216185..13216990,2	MCF-7	breast:
4	chr18:13105332..13108068-chr18:13112707..13115256,2	K562	blood:
5	chr18:13112982..13113595-chr18:13800638..13801184,2	MCF-7	breast:
6	chr18:13105332..13108593-chr18:13112315..13115256,3	K562	blood:

Variant related genes	Relation type
CEP192	TF binding region
ENSG00000267239	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11873391	1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs11876347	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28613155	1.00[AFR][1000 genomes]
rs28794612	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34337672	0.98[AFR][1000 genomes]
rs58586405	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59113597	0.90[AFR][1000 genomes]
rs61466343	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7227681	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7234768	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7235058	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7236885	0.83[AMR][1000 genomes]
rs7244672	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8085224	1.00[YRI][hapmap];0.98[AFR][1000 genomes]
rs8095026	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8099005	1.00[YRI][hapmap];0.98[AFR][1000 genomes]
rs9945683	1.00[AFR][1000 genomes]
rs9953764	1.00[AFR][1000 genomes]
rs9959303	1.00[AFR][1000 genomes]
rs9959437	0.89[AFR][1000 genomes]
rs9963178	0.96[AFR][1000 genomes]
rs9963273	1.00[AFR][1000 genomes]
rs9963581	1.00[AFR][1000 genomes]
rs9966473	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062014	chr18:12687210-13183383	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
2	nsv543655	chr18:12687210-13183383	Flanking Bivalent TSS/Enh Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
3	nsv1057083	chr18:12916779-13207538	Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
4	nsv576524	chr18:12918318-13183609	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
5	nsv1056593	chr18:12926314-13183383	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
6	nsv1064364	chr18:12926314-13207686	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
7	nsv833591	chr18:13093777-13253748	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:13018600-13117400	Weak transcription	Stomach Mucosa	stomach
2	chr18:13086400-13128000	Strong transcription	Primary neutrophils fromperipheralblood	blood
3	chr18:13089400-13122200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
4	chr18:13097200-13118800	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr18:13098800-13121200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr18:13099200-13124800	Strong transcription	Fetal Thymus	thymus
7	chr18:13099200-13127800	Strong transcription	Dnd41	blood
8	chr18:13099200-13128200	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr18:13099400-13129400	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr18:13105400-13115400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr18:13106200-13130000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr18:13106800-13113000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr18:13106800-13115200	Weak transcription	Gastric	stomach
14	chr18:13106800-13115400	Weak transcription	Aorta	Aorta
15	chr18:13106800-13115600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr18:13106800-13135400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr18:13107000-13117600	Weak transcription	NHLF	lung
18	chr18:13107000-13130400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr18:13107200-13114400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr18:13107200-13115200	Weak transcription	Fetal Brain Male	brain
21	chr18:13107200-13115800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr18:13107200-13117000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr18:13107200-13117600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr18:13107200-13117600	Weak transcription	NHDF-Ad	bronchial
25	chr18:13107400-13115200	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr18:13107600-13113800	Weak transcription	HMEC	breast
27	chr18:13107800-13121000	Weak transcription	Brain Substantia Nigra	brain
28	chr18:13108000-13115200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr18:13108200-13113000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr18:13108400-13115400	Weak transcription	Colonic Mucosa	Colon
31	chr18:13108400-13117400	Weak transcription	Hela-S3	cervix
32	chr18:13108400-13117600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr18:13108800-13115800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr18:13108800-13116200	Weak transcription	Stomach Smooth Muscle	stomach
35	chr18:13109000-13113200	Weak transcription	Rectal Smooth Muscle	rectum
36	chr18:13109200-13113000	Weak transcription	Primary T cells from cord blood	blood
37	chr18:13109200-13113200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr18:13109200-13113600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr18:13109200-13115000	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr18:13109200-13115200	Weak transcription	Primary hematopoietic stem cells	blood
41	chr18:13109200-13115200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr18:13109200-13115200	Weak transcription	Brain Angular Gyrus	brain
43	chr18:13109200-13115200	Weak transcription	Esophagus	oesophagus
44	chr18:13109200-13115200	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr18:13109200-13115400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr18:13109200-13117400	Weak transcription	Brain Anterior Caudate	brain
47	chr18:13109200-13117600	Weak transcription	Small Intestine	intestine
48	chr18:13109200-13117600	Weak transcription	A549	lung
49	chr18:13109200-13117600	Weak transcription	HSMMtube	muscle
50	chr18:13109400-13113000	Weak transcription	Brain Cingulate Gyrus	brain

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