Variant report

Variant	rs8142835
Chromosome Location	chr22:30782538-30782539
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	MAZ	chr22:30782206-30783972	IMR90	lung:	n/a	n/a
2	CTCF	chr22:30782323-30784026	SK-N-SH	brain:	n/a	chr22:30783491-30783504 chr22:30783820-30783833 chr22:30783489-30783507 chr22:30783490-30783506 chr22:30783484-30783505 chr22:30783495-30783504 chr22:30783491-30783504 chr22:30783817-30783835 chr22:30783492-30783502
3	MXI1	chr22:30781943-30783849	IMR90	lung:	n/a	n/a
4	CHD1	chr22:30782441-30783911	IMR90	lung:	n/a	n/a
5	E2F4	chr22:30782536-30782662	MCF10A-Er-Src	breast:	n/a	n/a
6	HCFC1	chr22:30782469-30783847	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr22:30780810..30782737-chr22:30819771..30822166,2	MCF-7	breast:
2	chr22:30658407..30662211-chr22:30782039..30784785,6	MCF-7	breast:
3	chr22:30659097..30662032-chr22:30782521..30784593,3	MCF-7	breast:
4	chr22:30681125..30685749-chr22:30780011..30785695,7	MCF-7	breast:
5	chr22:30781850..30784098-chr22:30791520..30793035,3	MCF-7	breast:
6	chr22:30721494..30724747-chr22:30781448..30784941,5	MCF-7	breast:
7	chr22:30683076..30686857-chr22:30780059..30784684,12	MCF-7	breast:
8	chr22:30768241..30771846-chr22:30779941..30783662,3	MCF-7	breast:
9	chr22:30682210..30683992-chr22:30781064..30783506,2	K562	blood:

Variant related genes	Relation type
RNF215	TF binding region
ENSG00000187860	Chromatin interaction
ENSG00000100003	Chromatin interaction
ENSG00000239282	Chromatin interaction
ENSG00000242114	Chromatin interaction
ENSG00000099992	Chromatin interaction
ENSG00000099985	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12157860	1.00[AMR][1000 genomes]
rs57907583	1.00[AMR][1000 genomes]
rs5997621	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs5997635	1.00[AFR][1000 genomes]
rs7287885	1.00[AMR][1000 genomes]
rs7291572	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73881407	1.00[AMR][1000 genomes]
rs73881419	1.00[AMR][1000 genomes]
rs73881429	1.00[AMR][1000 genomes]
rs73881440	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73881449	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8137033	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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
4	esv3376959	chr22:30782102-30785000	Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
5	esv3374389	chr22:30782177-30784725	Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30772000-30783000	Weak transcription	Small Intestine	intestine
2	chr22:30777000-30782600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr22:30781800-30782600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr22:30781800-30782600	Genic enhancers	Fetal Intestine Small	intestine
5	chr22:30781800-30782800	Enhancers	Primary T cells fromperipheralblood	blood
6	chr22:30781800-30782800	Enhancers	Fetal Thymus	thymus
7	chr22:30782000-30782600	Enhancers	Cortex derived primary cultured neurospheres	brain
8	chr22:30782000-30782600	Enhancers	Colon Smooth Muscle	Colon
9	chr22:30782000-30782600	Enhancers	Duodenum Mucosa	Duodenum
10	chr22:30782000-30782600	Enhancers	Fetal Brain Male	brain
11	chr22:30782000-30782600	Enhancers	Placenta	Placenta
12	chr22:30782000-30782800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr22:30782000-30782800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr22:30782000-30782800	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
15	chr22:30782000-30782800	Flanking Active TSS	Osteobl	bone
16	chr22:30782000-30783000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr22:30782000-30783000	Enhancers	Sigmoid Colon	Sigmoid Colon
18	chr22:30782000-30783000	Flanking Active TSS	Dnd41	blood
19	chr22:30782200-30782600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr22:30782200-30782600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr22:30782200-30782600	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr22:30782200-30782600	Enhancers	Primary B cells from cord blood	blood
23	chr22:30782200-30782600	Active TSS	Primary T helper naive cells from peripheral blood	blood
24	chr22:30782200-30782600	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr22:30782200-30782600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr22:30782200-30782600	Enhancers	Esophagus	oesophagus
27	chr22:30782200-30782600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr22:30782200-30782600	Enhancers	Fetal Intestine Large	intestine
29	chr22:30782200-30782600	Enhancers	Fetal Lung	lung
30	chr22:30782200-30782600	Enhancers	Fetal Muscle Leg	muscle
31	chr22:30782200-30782600	Enhancers	Ovary	ovary
32	chr22:30782200-30782600	Enhancers	Rectal Mucosa Donor 31	rectum
33	chr22:30782200-30782600	Enhancers	Right Atrium	heart
34	chr22:30782200-30782600	Enhancers	Right Ventricle	heart
35	chr22:30782200-30782600	Enhancers	Stomach Mucosa	stomach
36	chr22:30782200-30782600	Bivalent Enhancer	Thymus	Thymus
37	chr22:30782200-30782600	Enhancers	Monocytes-CD14+_RO01746	blood
38	chr22:30782200-30782800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr22:30782200-30782800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
40	chr22:30782200-30782800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr22:30782200-30782800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
42	chr22:30782200-30782800	Enhancers	Primary T helper cells fromperipheralblood	blood
43	chr22:30782200-30782800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
44	chr22:30782200-30782800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
45	chr22:30782200-30782800	Flanking Active TSS	Brain Anterior Caudate	brain
46	chr22:30782200-30782800	Flanking Active TSS	Brain Cingulate Gyrus	brain
47	chr22:30782200-30782800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
48	chr22:30782200-30782800	Flanking Active TSS	Fetal Brain Female	brain
49	chr22:30782200-30782800	Enhancers	Gastric	stomach
50	chr22:30782200-30782800	Flanking Active TSS	Lung	lung

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