Variant report

Variant	rs72980338
Chromosome Location	chr2:234325023-234325024
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	POLR2A	chr2:234324905-234325515	A549	lung:	n/a	n/a
2	RUNX3	chr2:234324736-234325047	GM12878	blood:	n/a	n/a
3	RUNX3	chr2:234324742-234325085	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:234322925..234327112-chr2:234328162..234331354,4	K562	blood:
2	chr2:234322925..234325669-chr2:234328162..234330584,2	K562	blood:

Variant related genes	Relation type
DGKD	TF binding region

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11675254	0.88[EUR][1000 genomes]
rs11681704	0.92[EUR][1000 genomes]
rs11694406	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11694654	0.87[EUR][1000 genomes]
rs2228939	0.87[EUR][1000 genomes]
rs3754595	0.87[EUR][1000 genomes]
rs3768799	0.83[EUR][1000 genomes]
rs3768801	0.87[EUR][1000 genomes]
rs3768802	0.88[EUR][1000 genomes]
rs3820744	0.87[EUR][1000 genomes]
rs56266844	0.88[EUR][1000 genomes]
rs56336977	0.88[EUR][1000 genomes]
rs6753242	0.83[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72980361	0.88[EUR][1000 genomes]
rs72980376	0.87[EUR][1000 genomes]
rs7587876	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7597465	0.80[AMR][1000 genomes];0.98[EUR][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	nsv584700	chr2:234199401-234364426	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv529419	chr2:234229606-234670426	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:234308800-234328400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:234312600-234327400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
3	chr2:234317000-234327400	Enhancers	Primary T killer memory cells from peripheral blood	blood
4	chr2:234317200-234327400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr2:234317800-234327400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr2:234319200-234326000	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr2:234319200-234326400	Weak transcription	Fetal Thymus	thymus
8	chr2:234319200-234326800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr2:234319200-234326800	Weak transcription	Thymus	Thymus
10	chr2:234321000-234327200	Enhancers	Primary T helper naive cells from peripheral blood	blood
11	chr2:234321000-234327200	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr2:234321000-234327600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr2:234321400-234326800	Weak transcription	Primary hematopoietic stem cells	blood
14	chr2:234321400-234326800	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr2:234321400-234328000	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr2:234321600-234325800	Enhancers	Stomach Mucosa	stomach
17	chr2:234321600-234328000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr2:234321800-234325200	Enhancers	Small Intestine	intestine
19	chr2:234322000-234326600	Genic enhancers	Primary B cells from peripheral blood	blood
20	chr2:234322200-234325600	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr2:234322200-234325800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr2:234322200-234326600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr2:234322200-234326600	Enhancers	Sigmoid Colon	Sigmoid Colon
24	chr2:234322200-234327800	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr2:234322400-234328800	Weak transcription	Brain Germinal Matrix	brain
26	chr2:234322400-234371800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr2:234322600-234325600	Genic enhancers	Primary T cells from cord blood	blood
28	chr2:234322800-234327200	Strong transcription	Primary neutrophils fromperipheralblood	blood
29	chr2:234322800-234327200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
30	chr2:234322800-234328000	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr2:234323000-234325200	Transcr. at gene 5' and 3'	A549	lung
32	chr2:234323000-234326800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr2:234323000-234328200	Weak transcription	Fetal Brain Female	brain
34	chr2:234323200-234326400	Weak transcription	Gastric	stomach
35	chr2:234323200-234326400	Weak transcription	Spleen	Spleen
36	chr2:234323200-234326800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr2:234323200-234326800	Weak transcription	Esophagus	oesophagus
38	chr2:234323200-234327200	Weak transcription	Brain Hippocampus Middle	brain
39	chr2:234323200-234327600	Weak transcription	Rectal Smooth Muscle	rectum
40	chr2:234323200-234336600	Weak transcription	Brain Substantia Nigra	brain
41	chr2:234323400-234327200	Weak transcription	Brain Anterior Caudate	brain
42	chr2:234323600-234325600	Enhancers	Duodenum Mucosa	Duodenum
43	chr2:234323600-234328400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr2:234323600-234328800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr2:234323800-234325200	Weak transcription	Brain Cingulate Gyrus	brain
46	chr2:234323800-234325400	Active TSS	Right Ventricle	heart
47	chr2:234323800-234325400	Enhancers	Skeletal Muscle Male	skeletal muscle
48	chr2:234323800-234327200	Weak transcription	Adipose Nuclei	Adipose
49	chr2:234323800-234327200	Enhancers	Skeletal Muscle Female	skeletal muscle
50	chr2:234323800-234327800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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