Variant report

Variant	rs2412985
Chromosome Location	chr22:30792505-30792506
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	chr22:30792478-30792517	Hela-S3	cervix:	n/a	n/a
2	POLR2A	chr22:30792384-30792689	HepG2	liver:	n/a	n/a
3	POLR2A	chr22:30791787-30796585	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr22:30787731..30797808-chr22:30813672..30825727,31	MCF-7	breast:
2	chr22:30779604..30781335-chr22:30790630..30793179,2	MCF-7	breast:
3	chr22:30781850..30784098-chr22:30791520..30793035,3	MCF-7	breast:
4	chr22:30791754..30798377-chr22:30814746..30822334,13	K562	blood:

Variant related genes	Relation type
SEC14L2	TF binding region
ENSG00000222915	Chromatin interaction
ENSG00000272689	Chromatin interaction
ENSG00000099999	Chromatin interaction
ENSG00000242114	Chromatin interaction
ENSG00000273350	Chromatin interaction
ENSG00000268538	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs17658686	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2299824	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2299829	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4820011	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4820845	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5753103	0.90[ASN][1000 genomes]
rs5753130	0.85[AFR][1000 genomes]
rs5763939	0.84[ASN][1000 genomes]
rs5994293	0.88[ASN][1000 genomes]
rs5997602	0.84[ASN][1000 genomes]
rs722298	0.87[ASN][1000 genomes]
rs7292432	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs737805	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829171	chr22:30598030-31043578	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv914970	chr22:30619599-30850395	Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv915818	chr22:30708245-31346302	Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30783800-30792600	Weak transcription	Esophagus	oesophagus
2	chr22:30783800-30792600	Weak transcription	Fetal Brain Female	brain
3	chr22:30783800-30792600	Weak transcription	Fetal Kidney	kidney
4	chr22:30783800-30792600	Weak transcription	Pancreas	Pancrea
5	chr22:30783800-30792600	Weak transcription	Right Atrium	heart
6	chr22:30783800-30793000	Weak transcription	Gastric	stomach
7	chr22:30787400-30792600	Enhancers	Liver	Liver
8	chr22:30787600-30792600	Enhancers	Fetal Thymus	thymus
9	chr22:30787800-30792600	Weak transcription	Brain Angular Gyrus	brain
10	chr22:30787800-30792600	Weak transcription	Brain Substantia Nigra	brain
11	chr22:30787800-30792600	Weak transcription	HSMMtube	muscle
12	chr22:30787800-30792600	Weak transcription	HUVEC	blood vessel
13	chr22:30787800-30792600	Weak transcription	NHLF	lung
14	chr22:30787800-30792600	Weak transcription	Osteobl	bone
15	chr22:30788000-30792600	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr22:30788000-30792600	Weak transcription	NH-A	brain
17	chr22:30789200-30792600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr22:30789200-30793600	Weak transcription	K562	blood
19	chr22:30789400-30792800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr22:30789600-30792600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr22:30789800-30792600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr22:30790000-30792600	Weak transcription	Spleen	Spleen
23	chr22:30791400-30792600	Enhancers	Fetal Intestine Large	intestine
24	chr22:30791600-30792600	Enhancers	Fetal Intestine Small	intestine
25	chr22:30791800-30792600	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr22:30791800-30793000	Flanking Active TSS	HepG2	liver
27	chr22:30792000-30792600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
28	chr22:30792000-30792600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr22:30792000-30792600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
30	chr22:30792000-30792600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
31	chr22:30792000-30792600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr22:30792000-30792600	Enhancers	Brain Hippocampus Middle	brain
33	chr22:30792000-30792600	Enhancers	Brain Inferior Temporal Lobe	brain
34	chr22:30792000-30792600	Enhancers	Duodenum Mucosa	Duodenum
35	chr22:30792000-30792600	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
36	chr22:30792000-30792600	Enhancers	HMEC	breast
37	chr22:30792000-30792800	Bivalent Enhancer	Stomach Mucosa	stomach
38	chr22:30792000-30793000	Enhancers	Lung	lung
39	chr22:30792200-30792600	Enhancers	Primary T helper naive cells from peripheral blood	blood
40	chr22:30792200-30792600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
41	chr22:30792200-30792600	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
42	chr22:30792200-30792600	Bivalent Enhancer	Fetal Stomach	stomach
43	chr22:30792200-30792600	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
44	chr22:30792200-30793000	Flanking Active TSS	Dnd41	blood
45	chr22:30792400-30792600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr22:30792400-30792600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr22:30792400-30792600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr22:30792400-30792600	Enhancers	Primary T killer memory cells from peripheral blood	blood
49	chr22:30792400-30792600	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr22:30792400-30792600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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