Variant report

Variant	rs72935234
Chromosome Location	chr18:9135148-9135149
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:22)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:22 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr18:9135092-9135419	GM12891	blood:	n/a	n/a
2	POLR2A	chr18:9135125-9135501	K562	blood:	n/a	n/a
3	POLR2A	chr18:9135093-9135345	GM12878	blood:	n/a	n/a
4	PML	chr18:9134826-9137178	GM12878	blood:	n/a	n/a
5	POLR2A	chr18:9135138-9135222	K562	blood:	n/a	n/a
6	POLR2A	chr18:9135135-9138194	GM12878	blood:	n/a	n/a
7	POLR2A	chr18:9134924-9135153	HepG2	liver:	n/a	n/a
8	POLR2A	chr18:9134266-9138689	GM12891	blood:	n/a	n/a
9	POLR2A	chr18:9135057-9135247	ProgFib	skin:	n/a	n/a
10	MXI1	chr18:9135143-9138796	SK-N-SH	brain:	n/a	n/a
11	POLR2A	chr18:9134233-9137017	K562	blood:	n/a	n/a
12	POLR2A	chr18:9134925-9138506	GM12892	blood:	n/a	n/a
13	POLR2A	chr18:9135118-9138291	GM12892	blood:	n/a	n/a
14	POLR2A	chr18:9135066-9135339	GM12892	blood:	n/a	n/a
15	POLR2A	chr18:9135044-9135375	GM12892	blood:	n/a	n/a
16	POLR2A	chr18:9134816-9138062	GM12878	blood:	n/a	n/a
17	POLR2A	chr18:9135091-9135279	A549	lung:	n/a	n/a
18	POLR2A	chr18:9135065-9135375	GM12891	blood:	n/a	n/a
19	POLR2A	chr18:9134693-9137775	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr18:9134992-9135200	Hela-S3	cervix:	n/a	n/a
21	POLR2A	chr18:9134846-9135449	K562	blood:	n/a	n/a
22	POLR2A	chr18:9134402-9137098	HepG2	liver:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr18:9100897..9104416-chr18:9134561..9139326,10	MCF-7	breast:
2	chr18:9100057..9106592-chr18:9133189..9143801,32	K562	blood:
3	chr18:9115829..9117482-chr18:9134395..9136348,2	MCF-7	breast:
4	chr18:8608734..8611272-chr18:9134054..9137046,2	K562	blood:
5	chr18:8998776..9001025-chr18:9134004..9135703,2	K562	blood:
6	chr18:9099316..9108402-chr18:9132066..9139576,22	K562	blood:
7	chr18:9111384..9114094-chr18:9134480..9136181,2	MCF-7	breast:
8	chr18:9100237..9107287-chr18:9132588..9139279,23	MCF-7	breast:
9	chr18:9117343..9119164-chr18:9132921..9135865,2	K562	blood:

No data

Variant related genes	Relation type
ANKRD12	TF binding region
ENSG00000266053	TF binding region
ENSG00000178127	Chromatin interaction
ENSG00000206418	Chromatin interaction
ENSG00000265257	Chromatin interaction
ENSG00000263847	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs72935228	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72935238	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72939247	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916373	chr18:9026803-9592201	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv431971	chr18:9081185-9326852	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv1056258	chr18:9094498-9181498	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv909364	chr18:9114096-9186684	Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv543641	chr18:9120450-9181498	Genic enhancers Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv543642	chr18:9133164-9191739	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9107000-9135200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr18:9107400-9135400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr18:9116800-9135200	Strong transcription	Fetal Thymus	thymus
4	chr18:9117400-9135200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr18:9117400-9135600	Weak transcription	Esophagus	oesophagus
6	chr18:9117400-9135800	Weak transcription	Gastric	stomach
7	chr18:9117600-9135200	Weak transcription	Psoas Muscle	Psoas
8	chr18:9117600-9135800	Weak transcription	Pancreas	Pancrea
9	chr18:9117800-9135600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr18:9117800-9135800	Weak transcription	Small Intestine	intestine
11	chr18:9118800-9135600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr18:9118800-9135600	Weak transcription	Right Ventricle	heart
13	chr18:9119400-9135200	Weak transcription	Stomach Mucosa	stomach
14	chr18:9119800-9135400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr18:9121200-9135200	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr18:9121200-9135200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr18:9124000-9135600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr18:9125200-9135600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr18:9127600-9135400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr18:9127800-9135200	Weak transcription	Spleen	Spleen
21	chr18:9128000-9135200	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr18:9128000-9135600	Weak transcription	Brain Angular Gyrus	brain
23	chr18:9128000-9135600	Weak transcription	Brain Cingulate Gyrus	brain
24	chr18:9128600-9135800	Weak transcription	Placenta Amnion	Placenta Amnion
25	chr18:9129000-9135400	Weak transcription	Fetal Kidney	kidney
26	chr18:9129600-9135200	Genic enhancers	Liver	Liver
27	chr18:9129800-9135400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr18:9130000-9135200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr18:9130000-9135200	Weak transcription	Fetal Stomach	stomach
30	chr18:9130000-9135600	Weak transcription	HSMMtube	muscle
31	chr18:9130000-9135800	Weak transcription	Lung	lung
32	chr18:9130200-9135800	Weak transcription	Colonic Mucosa	Colon
33	chr18:9130800-9135600	Strong transcription	Osteobl	bone
34	chr18:9131000-9135600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr18:9131000-9135800	Weak transcription	Left Ventricle	heart
36	chr18:9131200-9135600	Weak transcription	Brain Anterior Caudate	brain
37	chr18:9131400-9135200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr18:9131400-9135200	Weak transcription	Rectal Smooth Muscle	rectum
39	chr18:9131400-9135800	Weak transcription	Ovary	ovary
40	chr18:9131800-9135200	Strong transcription	Fetal Muscle Leg	muscle
41	chr18:9132000-9135200	Weak transcription	HMEC	breast
42	chr18:9132000-9135600	Strong transcription	NH-A	brain
43	chr18:9132400-9135400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr18:9132600-9135400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr18:9132800-9135200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr18:9132800-9135200	Weak transcription	Brain Hippocampus Middle	brain
47	chr18:9132800-9135400	Weak transcription	Thymus	Thymus
48	chr18:9132800-9135800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr18:9133000-9135200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr18:9133200-9135200	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--

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