Variant report

Variant	rs72868490
Chromosome Location	chr2:36818423-36818424
allele	G/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	POLR2A	chr2:36818351-36818435	ProgFib	skin:	n/a	n/a
2	GATA3	chr2:36818264-36818435	SH-SY5Y	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:36816372..36820679-chr2:36821932..36827532,8	K562	blood:
2	chr2:36809435..36813840-chr2:36817141..36820574,5	K562	blood:
3	chr2:36817392..36820041-chr2:36820581..36825790,5	MCF-7	breast:

Variant related genes	Relation type
FEZ2	TF binding region
ENSG00000171055	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10490669	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10490670	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12615583	1.00[EUR][1000 genomes]
rs12615713	1.00[EUR][1000 genomes]
rs17019091	1.00[EUR][1000 genomes]
rs17019115	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17019147	1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17019149	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17019158	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2287105	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3770800	1.00[EUR][1000 genomes]
rs3770801	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3770806	1.00[EUR][1000 genomes]
rs3770810	1.00[EUR][1000 genomes]
rs3770860	1.00[EUR][1000 genomes]
rs3770870	1.00[EUR][1000 genomes]
rs56313057	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs58321636	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs58868295	1.00[EUR][1000 genomes]
rs73923036	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010985	chr2:36707157-36942066	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv535642	chr2:36707157-36942066	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:36751000-36824200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:36792200-36824200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:36798400-36818600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr2:36799200-36819200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
5	chr2:36799200-36822600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr2:36802000-36823800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr2:36807600-36823600	Weak transcription	Spleen	Spleen
8	chr2:36808600-36823400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr2:36808600-36823800	Weak transcription	Fetal Kidney	kidney
10	chr2:36808800-36822400	Weak transcription	Stomach Mucosa	stomach
11	chr2:36808800-36823400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr2:36808800-36823400	Weak transcription	Small Intestine	intestine
13	chr2:36808800-36823600	Weak transcription	Aorta	Aorta
14	chr2:36809000-36823400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr2:36810600-36823000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr2:36810800-36822200	Weak transcription	Fetal Brain Male	brain
17	chr2:36811000-36822600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr2:36811400-36821800	Weak transcription	Colonic Mucosa	Colon
19	chr2:36811400-36822600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr2:36811400-36822600	Weak transcription	Gastric	stomach
21	chr2:36811400-36823400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr2:36811400-36823600	Weak transcription	Right Ventricle	heart
23	chr2:36811600-36822200	Weak transcription	Thymus	Thymus
24	chr2:36811800-36823600	Weak transcription	Pancreas	Pancrea
25	chr2:36812000-36823400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr2:36812200-36821800	Weak transcription	NHEK	skin
27	chr2:36812200-36822200	Weak transcription	Esophagus	oesophagus
28	chr2:36812200-36822200	Weak transcription	Ovary	ovary
29	chr2:36812200-36822600	Weak transcription	Brain Germinal Matrix	brain
30	chr2:36812200-36823200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr2:36812200-36823200	Weak transcription	Stomach Smooth Muscle	stomach
32	chr2:36812200-36823400	Weak transcription	Lung	lung
33	chr2:36812200-36824000	Weak transcription	HSMMtube	muscle
34	chr2:36812400-36821800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr2:36812400-36822000	Weak transcription	Rectal Smooth Muscle	rectum
36	chr2:36813400-36823600	Weak transcription	Hela-S3	cervix
37	chr2:36814600-36821800	Weak transcription	GM12878-XiMat	blood
38	chr2:36814600-36823000	Weak transcription	Left Ventricle	heart
39	chr2:36814600-36823400	Weak transcription	Fetal Stomach	stomach
40	chr2:36815000-36822800	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr2:36815600-36818600	Strong transcription	Primary B cells from cord blood	blood
42	chr2:36815600-36823200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr2:36816400-36819200	Transcr. at gene 5' and 3'	Skeletal Muscle Female	skeletal muscle
44	chr2:36816600-36822400	Weak transcription	Fetal Brain Female	brain
45	chr2:36816800-36823200	Weak transcription	Right Atrium	heart
46	chr2:36816800-36823200	Weak transcription	NHLF	lung
47	chr2:36816800-36823600	Weak transcription	Fetal Heart	heart
48	chr2:36817200-36821400	Weak transcription	Duodenum Mucosa	Duodenum
49	chr2:36817200-36821600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr2:36817200-36821800	Weak transcription	Sigmoid Colon	Sigmoid Colon

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links