Variant report

Variant	rs61770086
Chromosome Location	chr1:62151202-62151203
allele	A/C
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	chr1:62151067-62151551	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:62149581..62151297-chr1:62188336..62190788,2	K562	blood:
2	chr1:62149064..62151297-chr1:62189288..62192078,2	K562	blood:

Variant related genes	Relation type
TM2D1	TF binding region
ENSG00000162604	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs17312971	0.86[ASN][1000 genomes]
rs35138123	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61770105	0.87[AFR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs61770106	0.86[EUR][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	nsv994970	chr1:61693951-62199657	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv1000294	chr1:61746280-62350718	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS 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	28 gene(s)	inside rSNPs	diseases
3	nsv947264	chr1:62146171-62151947	Genic enhancers Weak transcription Strong transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:62126000-62165200	Weak transcription	Brain Cingulate Gyrus	brain
2	chr1:62131600-62151400	Weak transcription	Lung	lung
3	chr1:62131600-62163800	Weak transcription	Thymus	Thymus
4	chr1:62134800-62164400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr1:62134800-62164400	Weak transcription	Right Ventricle	heart
6	chr1:62135000-62165000	Weak transcription	Brain Germinal Matrix	brain
7	chr1:62136000-62153400	Weak transcription	NHDF-Ad	bronchial
8	chr1:62136600-62151800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr1:62136800-62173800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr1:62138800-62189600	Weak transcription	Psoas Muscle	Psoas
11	chr1:62140000-62189000	Weak transcription	NHLF	lung
12	chr1:62140200-62163800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr1:62142800-62157800	Weak transcription	A549	lung
14	chr1:62142800-62172200	Weak transcription	Ovary	ovary
15	chr1:62142800-62188600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr1:62143200-62157800	Weak transcription	Colon Smooth Muscle	Colon
17	chr1:62143200-62164000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr1:62143400-62153000	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr1:62143600-62163400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr1:62143800-62152600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr1:62143800-62165600	Weak transcription	Stomach Mucosa	stomach
22	chr1:62143800-62170200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr1:62144000-62153000	Strong transcription	Primary monocytes fromperipheralblood	blood
24	chr1:62144200-62162800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr1:62144600-62163800	Weak transcription	Spleen	Spleen
26	chr1:62144600-62164800	Weak transcription	Fetal Brain Female	brain
27	chr1:62144600-62165000	Weak transcription	Brain Substantia Nigra	brain
28	chr1:62144600-62165600	Weak transcription	HepG2	liver
29	chr1:62144800-62153000	Strong transcription	Liver	Liver
30	chr1:62144800-62161400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr1:62144800-62161600	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr1:62144800-62163000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr1:62144800-62164400	Weak transcription	Fetal Brain Male	brain
34	chr1:62145000-62162600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr1:62145000-62163000	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr1:62145000-62164800	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr1:62145000-62165000	Weak transcription	NH-A	brain
38	chr1:62145000-62172200	Weak transcription	Colonic Mucosa	Colon
39	chr1:62145200-62167400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
40	chr1:62145800-62153000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr1:62145800-62153200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr1:62146000-62153200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr1:62146000-62153600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr1:62146000-62163600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr1:62146200-62151600	Strong transcription	Primary B cells from cord blood	blood
46	chr1:62146200-62152800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr1:62146200-62153000	Strong transcription	Primary T cells fromperipheralblood	blood
48	chr1:62146200-62154200	Strong transcription	Primary T helper cells fromperipheralblood	blood
49	chr1:62146200-62163800	Weak transcription	HSMMtube	muscle
50	chr1:62146200-62190200	Weak transcription	Placenta Amnion	Placenta Amnion

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links