Variant report

Variant	rs9947753
Chromosome Location	chr18:12315957-12315958
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:12314718..12316878-chr18:12317452..12319661,2	MCF-7	breast:
2	chr18:12311936..12317885-chr18:12323414..12329476,8	K562	blood:
3	chr18:12314155..12316908-chr18:12374890..12378793,4	K562	blood:

Variant related genes	Relation type
ENSG00000141385	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs9946007	1.00[AMR][1000 genomes]
rs9947996	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9950753	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	nsv909402	chr18:12211483-12325222	Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
5	nsv909403	chr18:12231060-12325222	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
6	nsv1061545	chr18:12235999-12328405	Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
7	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
8	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
9	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
10	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

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:12309200-12316000	Weak transcription	Gastric	stomach
2	chr18:12309600-12317800	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr18:12310000-12318000	Weak transcription	Esophagus	oesophagus
4	chr18:12310000-12318200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr18:12310000-12324800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr18:12310000-12325800	Weak transcription	Fetal Kidney	kidney
7	chr18:12310200-12317600	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr18:12310200-12319000	Strong transcription	HUES48 Cell Line	embryonic stem cell
9	chr18:12310200-12320400	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr18:12310200-12324800	Weak transcription	HepG2	liver
11	chr18:12310600-12322800	Strong transcription	Placenta Amnion	Placenta Amnion
12	chr18:12311000-12316200	Genic enhancers	HMEC	breast
13	chr18:12311000-12323200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr18:12311000-12324800	Weak transcription	Spleen	Spleen
15	chr18:12311600-12316400	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr18:12311600-12316400	Strong transcription	Placenta	Placenta
17	chr18:12311600-12318400	Genic enhancers	Muscle Satellite Cultured Cells	--
18	chr18:12312600-12317600	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr18:12312600-12319000	Strong transcription	HUES64 Cell Line	embryonic stem cell
20	chr18:12312600-12320400	Weak transcription	Brain Angular Gyrus	brain
21	chr18:12312600-12325000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr18:12312600-12332600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr18:12312800-12316400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr18:12312800-12317600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr18:12312800-12317600	Strong transcription	Cortex derived primary cultured neurospheres	brain
26	chr18:12312800-12324800	Weak transcription	Colonic Mucosa	Colon
27	chr18:12312800-12324800	Weak transcription	Fetal Brain Female	brain
28	chr18:12313000-12316200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr18:12313000-12316400	Genic enhancers	Colon Smooth Muscle	Colon
30	chr18:12313000-12316600	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr18:12313000-12317400	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr18:12313000-12319000	Enhancers	Fetal Heart	heart
33	chr18:12313000-12319000	Strong transcription	A549	lung
34	chr18:12313000-12320800	Weak transcription	Fetal Intestine Small	intestine
35	chr18:12313200-12318600	Genic enhancers	NHDF-Ad	bronchial
36	chr18:12313200-12320400	Weak transcription	Liver	Liver
37	chr18:12313400-12316000	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr18:12313400-12316200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr18:12313400-12317600	Weak transcription	Fetal Thymus	thymus
40	chr18:12313400-12318000	Strong transcription	Hela-S3	cervix
41	chr18:12313400-12318200	Genic enhancers	Osteobl	bone
42	chr18:12313400-12319600	Genic enhancers	Fetal Muscle Leg	muscle
43	chr18:12313600-12316600	Strong transcription	Monocytes-CD14+_RO01746	blood
44	chr18:12313600-12318000	Weak transcription	Brain Hippocampus Middle	brain
45	chr18:12313800-12316800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
46	chr18:12314000-12316200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr18:12314000-12316600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr18:12314000-12316800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
49	chr18:12314000-12318000	Enhancers	Duodenum Smooth Muscle	Duodenum
50	chr18:12314000-12333600	Weak transcription	ES-I3 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links