Variant report

Variant	rs7288777
Chromosome Location	chr22:30161703-30161704
allele	A/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr22:30161368-30161842	HepG2	liver:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:30161269..30163676-chr22:30230353..30231980,2	MCF-7	breast:
2	chr22:30161016..30163060-chr22:30205322..30207910,2	MCF-7	breast:
3	chr22:30094321..30096563-chr22:30160914..30162763,2	MCF-7	breast:
4	chr22:30155454..30157843-chr22:30160935..30162894,2	MCF-7	breast:
5	chr22:30161539..30163655-chr22:30194119..30196895,2	K562	blood:
6	chr22:30161121..30163790-chr22:30207742..30209725,2	MCF-7	breast:

No data

Variant related genes	Relation type
UQCR10	TF binding region
ENSG00000100325	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs12160999	1.00[AMR][1000 genomes]
rs56783715	0.91[ASN][1000 genomes]
rs57014206	0.91[ASN][1000 genomes]
rs58113244	0.91[ASN][1000 genomes]
rs58808486	1.00[ASN][1000 genomes]
rs59172206	0.91[ASN][1000 genomes]
rs59237579	0.91[ASN][1000 genomes]
rs59422664	0.91[ASN][1000 genomes]
rs59698661	1.00[ASN][1000 genomes]
rs59902813	0.91[ASN][1000 genomes]
rs60020246	0.91[ASN][1000 genomes]
rs6006260	1.00[ASN][1000 genomes]
rs60670183	1.00[ASN][1000 genomes]
rs60751623	0.82[ASN][1000 genomes]
rs60965931	0.91[ASN][1000 genomes]
rs61399074	1.00[ASN][1000 genomes]
rs61432554	0.91[ASN][1000 genomes]
rs61740613	0.82[ASN][1000 genomes]
rs7285384	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529742	chr22:29677909-30274388	Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1064081	chr22:29826745-30623965	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv544677	chr22:29826745-30623965	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	nsv515720	chr22:30081715-30163526	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30131600-30162000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr22:30144400-30161800	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr22:30144400-30162000	Weak transcription	Placenta	Placenta
4	chr22:30144400-30162200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr22:30144600-30161800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr22:30144600-30161800	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr22:30144600-30161800	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr22:30144600-30162000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr22:30144800-30161800	Weak transcription	Primary B cells from peripheral blood	blood
10	chr22:30144800-30161800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr22:30144800-30161800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr22:30146000-30161800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr22:30146600-30161800	Weak transcription	Brain Germinal Matrix	brain
14	chr22:30146800-30161800	Weak transcription	Brain Anterior Caudate	brain
15	chr22:30146800-30161800	Weak transcription	Right Ventricle	heart
16	chr22:30147000-30162000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr22:30147000-30162200	Weak transcription	Gastric	stomach
18	chr22:30147400-30161800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
19	chr22:30147600-30161800	Weak transcription	Primary B cells from cord blood	blood
20	chr22:30147600-30161800	Weak transcription	NHEK	skin
21	chr22:30147600-30162200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr22:30147800-30161800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr22:30148200-30162000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr22:30148400-30161800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr22:30149200-30161800	Weak transcription	Fetal Intestine Large	intestine
26	chr22:30150400-30161800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr22:30150400-30161800	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr22:30150400-30162000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr22:30150600-30161800	Weak transcription	Brain Hippocampus Middle	brain
30	chr22:30150600-30161800	Weak transcription	Duodenum Mucosa	Duodenum
31	chr22:30150800-30161800	Weak transcription	Primary T cells from cord blood	blood
32	chr22:30150800-30161800	Weak transcription	Fetal Brain Female	brain
33	chr22:30150800-30161800	Weak transcription	Stomach Smooth Muscle	stomach
34	chr22:30150800-30161800	Weak transcription	Spleen	Spleen
35	chr22:30150800-30162000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
36	chr22:30150800-30162200	Weak transcription	HSMMtube	muscle
37	chr22:30151000-30162000	Weak transcription	HSMM	muscle
38	chr22:30152000-30162200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr22:30152400-30162000	Weak transcription	Esophagus	oesophagus
40	chr22:30153000-30162000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr22:30153800-30162200	Weak transcription	Aorta	Aorta
42	chr22:30154200-30162000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr22:30155000-30162000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr22:30155400-30161800	Weak transcription	Adipose Nuclei	Adipose
45	chr22:30155400-30161800	Weak transcription	Brain Substantia Nigra	brain
46	chr22:30155400-30161800	Weak transcription	Left Ventricle	heart
47	chr22:30155400-30162200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr22:30155400-30162200	Weak transcription	Fetal Stomach	stomach
49	chr22:30156800-30162000	Weak transcription	Fetal Kidney	kidney
50	chr22:30158600-30162200	Weak transcription	H9 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links