Variant report

Variant	rs35070801
Chromosome Location	chr1:180880742-180880743
allele	A/G
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	RELA	chr1:180880720-180881647	GM18951	blood:	n/a	chr1:180881341-180881350 chr1:180881341-180881350
2	CEBPB	chr1:180880682-180880988	IMR90	lung:	n/a	n/a
3	YY1	chr1:180880655-180881162	H1-hESC	embryonic stem cell:	n/a	chr1:180881063-180881074 chr1:180880826-180880838
4	YY1	chr1:180880683-180881054	H1-hESC	embryonic stem cell:	n/a	chr1:180880826-180880838
5	YY1	chr1:180880738-180880911	K562	blood:	n/a	chr1:180880826-180880838
6	POLR2A	chr1:180880603-180882704	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:180873512..180876781-chr1:180876890..180880881,3	K562	blood:
2	chr1:180879805..180882226-chr1:180894957..180896873,2	MCF-7	breast:

Variant related genes	Relation type
KIAA1614	TF binding region
ENSG00000225857	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10753226	0.87[AMR][1000 genomes]
rs11800333	0.93[ASN][1000 genomes]
rs11812056	0.93[ASN][1000 genomes]
rs6672415	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7536392	0.87[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014404	chr1:180770155-181090200	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:180805800-180881000	Weak transcription	Aorta	Aorta
2	chr1:180824000-180880800	Weak transcription	Right Ventricle	heart
3	chr1:180861200-180880800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr1:180868800-180881000	Weak transcription	Right Atrium	heart
5	chr1:180869600-180881000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:180869800-180880800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr1:180877600-180881200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr1:180878400-180881000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr1:180878600-180881000	Weak transcription	Lung	lung
10	chr1:180879000-180880800	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr1:180879000-180881000	Enhancers	Fetal Heart	heart
12	chr1:180879200-180881800	Weak transcription	A549	lung
13	chr1:180879400-180880800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr1:180879400-180880800	Enhancers	Fetal Stomach	stomach
15	chr1:180879400-180881000	Enhancers	Left Ventricle	heart
16	chr1:180879800-180880800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr1:180879800-180880800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr1:180879800-180880800	Enhancers	Colon Smooth Muscle	Colon
19	chr1:180879800-180880800	Enhancers	Rectal Smooth Muscle	rectum
20	chr1:180880000-180880800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr1:180880000-180880800	Enhancers	Brain Cingulate Gyrus	brain
22	chr1:180880000-180880800	Enhancers	Brain Substantia Nigra	brain
23	chr1:180880000-180880800	Enhancers	Duodenum Smooth Muscle	Duodenum
24	chr1:180880000-180881000	Weak transcription	GM12878-XiMat	blood
25	chr1:180880000-180881200	Bivalent Enhancer	Fetal Thymus	thymus
26	chr1:180880200-180881000	Enhancers	Placenta	Placenta
27	chr1:180880400-180880800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr1:180880400-180880800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr1:180880400-180880800	Enhancers	Brain Anterior Caudate	brain
30	chr1:180880400-180880800	Enhancers	Placenta Amnion	Placenta Amnion
31	chr1:180880400-180880800	Enhancers	Rectal Mucosa Donor 29	rectum
32	chr1:180880400-180880800	Enhancers	HSMMtube	muscle
33	chr1:180880400-180881000	Flanking Active TSS	Fetal Lung	lung
34	chr1:180880400-180881200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr1:180880400-180881200	Flanking Active TSS	Stomach Smooth Muscle	stomach
36	chr1:180880600-180880800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
37	chr1:180880600-180880800	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
38	chr1:180880600-180880800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
39	chr1:180880600-180880800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr1:180880600-180880800	Enhancers	Adipose Nuclei	Adipose
41	chr1:180880600-180880800	Enhancers	Brain Germinal Matrix	brain
42	chr1:180880600-180880800	Enhancers	Brain Inferior Temporal Lobe	brain
43	chr1:180880600-180880800	Active TSS	Fetal Brain Male	brain
44	chr1:180880600-180880800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
45	chr1:180880600-180880800	Flanking Active TSS	Fetal Muscle Leg	muscle
46	chr1:180880600-180880800	Enhancers	NH-A	brain
47	chr1:180880600-180880800	Enhancers	NHLF	lung
48	chr1:180880600-180881000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr1:180880600-180881000	Enhancers	Brain Hippocampus Middle	brain
50	chr1:180880600-180881000	Enhancers	Fetal Kidney	kidney

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