Variant report

Variant	rs72935229
Chromosome Location	chr18:9130448-9130449
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:9129958..9132531-chr18:9307158..9309003,2	K562	blood:
2	chr18:9123369..9127442-chr18:9129820..9133797,5	MCF-7	breast:
3	chr18:9102721..9105418-chr18:9130309..9132440,3	MCF-7	breast:
4	chr18:9012734..9014456-chr18:9130363..9132462,2	K562	blood:

Variant related genes	Relation type
ENSG00000178127	Chromatin interaction
ENSG00000265257	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs17413344	1.00[AFR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17497377	0.89[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs2377962	0.86[EUR][1000 genomes]
rs28578690	0.81[ASN][1000 genomes]
rs56996721	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs57716132	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58350342	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes]
rs59983698	1.00[AFR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60143204	0.82[EUR][1000 genomes]
rs7229105	0.82[EUR][1000 genomes]
rs72935233	1.00[AFR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72935236	1.00[AFR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72935248	0.90[AFR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72935249	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72935251	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72935253	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72935258	1.00[AFR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72935260	0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72935263	0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72935265	0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72935266	0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72935267	0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72935274	0.86[EUR][1000 genomes]
rs72937244	0.82[EUR][1000 genomes]
rs72937245	0.82[EUR][1000 genomes]
rs72937248	0.82[EUR][1000 genomes]
rs72937250	0.82[EUR][1000 genomes]
rs72937267	0.89[AFR][1000 genomes]
rs72939216	0.84[AFR][1000 genomes]
rs7506561	0.90[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs8094979	0.86[EUR][1000 genomes]
rs9652921	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs9675513	1.00[AFR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][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	nsv1064883	chr18:8709670-9133224	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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
6	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

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	chr18:9107800-9134600	Weak transcription	Fetal Brain Male	brain
4	chr18:9114000-9130800	Weak transcription	Ovary	ovary
5	chr18:9115400-9134600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr18:9115800-9134800	Strong transcription	Dnd41	blood
7	chr18:9116800-9135200	Strong transcription	Fetal Thymus	thymus
8	chr18:9117200-9134800	Weak transcription	Brain Germinal Matrix	brain
9	chr18:9117400-9132000	Strong transcription	Fetal Intestine Large	intestine
10	chr18:9117400-9135200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr18:9117400-9135600	Weak transcription	Esophagus	oesophagus
12	chr18:9117400-9135800	Weak transcription	Gastric	stomach
13	chr18:9117600-9134800	Strong transcription	HUES6 Cell Line	embryonic stem cell
14	chr18:9117600-9135200	Weak transcription	Psoas Muscle	Psoas
15	chr18:9117600-9135800	Weak transcription	Pancreas	Pancrea
16	chr18:9117800-9132600	Weak transcription	Aorta	Aorta
17	chr18:9117800-9135000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr18:9117800-9135600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr18:9117800-9135800	Weak transcription	Small Intestine	intestine
20	chr18:9118200-9134400	Strong transcription	HUES64 Cell Line	embryonic stem cell
21	chr18:9118200-9135000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
22	chr18:9118400-9134400	Strong transcription	HUES48 Cell Line	embryonic stem cell
23	chr18:9118600-9134600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr18:9118600-9135000	Strong transcription	H1 Cell Line	embryonic stem cell
25	chr18:9118800-9134400	Strong transcription	K562	blood
26	chr18:9118800-9135600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr18:9118800-9135600	Weak transcription	Right Ventricle	heart
28	chr18:9119000-9132600	Strong transcription	Rectal Mucosa Donor 31	rectum
29	chr18:9119200-9131200	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr18:9119200-9134400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
31	chr18:9119400-9135200	Weak transcription	Stomach Mucosa	stomach
32	chr18:9119600-9132000	Strong transcription	Primary neutrophils fromperipheralblood	blood
33	chr18:9119800-9135000	Strong transcription	Monocytes-CD14+_RO01746	blood
34	chr18:9119800-9135400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr18:9120000-9134800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr18:9121200-9132600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr18:9121200-9133200	Strong transcription	Primary hematopoietic stem cells	blood
38	chr18:9121200-9135200	Strong transcription	Primary monocytes fromperipheralblood	blood
39	chr18:9121200-9135200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr18:9121400-9134800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr18:9121800-9134800	Strong transcription	Primary B cells from peripheral blood	blood
42	chr18:9122400-9134600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr18:9122800-9134800	Strong transcription	NHDF-Ad	bronchial
44	chr18:9123000-9132800	Strong transcription	Cortex derived primary cultured neurospheres	brain
45	chr18:9123400-9130800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr18:9123400-9131200	Strong transcription	A549	lung
47	chr18:9124000-9135600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr18:9125000-9133000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr18:9125000-9134000	Strong transcription	HSMM	muscle
50	chr18:9125000-9134600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links