Variant report

Variant	rs74156110
Chromosome Location	chr1:210408397-210408398
allele	C/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:5)
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	chr1:210405595-210408558	H1-neurons	neurons:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:210404317..210408653-chr1:210545033..210548956,7	MCF-7	breast:
2	chr1:210408225..210409990-chr1:210411701..210413729,2	K562	blood:
3	chr1:210405867..210408909-chr1:210535692..210538632,3	MCF-7	breast:
4	chr1:210406407..210409749-chr1:210545963..210547821,3	MCF-7	breast:
5	chr1:210407733..210410508-chr1:210422643..210424269,2	MCF-7	breast:

No data

Variant related genes	Relation type
SERTAD4-AS1	TF binding region
SERTAD4	TF binding region
ENSG00000054392	Chromatin interaction
ENSG00000200972	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10489389	1.00[EUR][1000 genomes]
rs12088457	1.00[EUR][1000 genomes]
rs12088691	1.00[EUR][1000 genomes]
rs1342134	1.00[EUR][1000 genomes]
rs17015995	1.00[EUR][1000 genomes]
rs17015999	1.00[EUR][1000 genomes]
rs17016011	1.00[EUR][1000 genomes]
rs17276856	1.00[EUR][1000 genomes]
rs55684632	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55934820	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56017967	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57296511	1.00[EUR][1000 genomes]
rs57841462	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58060889	1.00[EUR][1000 genomes]
rs61384712	1.00[EUR][1000 genomes]
rs73061730	1.00[EUR][1000 genomes]
rs73061735	1.00[EUR][1000 genomes]
rs73061738	1.00[EUR][1000 genomes]
rs73071940	1.00[EUR][1000 genomes]
rs73071956	1.00[EUR][1000 genomes]
rs73071958	1.00[EUR][1000 genomes]
rs73071959	1.00[EUR][1000 genomes]
rs73071965	1.00[EUR][1000 genomes]
rs73071973	1.00[EUR][1000 genomes]
rs73074132	1.00[EUR][1000 genomes]
rs74156112	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74156113	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74156114	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74156116	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74156118	1.00[EUR][1000 genomes]
rs74156120	1.00[AMR][1000 genomes]
rs74156121	1.00[EUR][1000 genomes]
rs74156122	1.00[EUR][1000 genomes]
rs74156123	1.00[EUR][1000 genomes]
rs74156149	1.00[EUR][1000 genomes]
rs9970953	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014034	chr1:209759648-210501731	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
2	nsv8769	chr1:210403509-210564588	Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	126 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210406200-210408400	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
2	chr1:210407400-210408400	Flanking Active TSS	Stomach Smooth Muscle	stomach
3	chr1:210407600-210408400	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
4	chr1:210407800-210408400	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr1:210407800-210408400	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
6	chr1:210407800-210408400	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
7	chr1:210407800-210408400	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
8	chr1:210407800-210409200	Weak transcription	Aorta	Aorta
9	chr1:210407800-210409600	Weak transcription	Ovary	ovary
10	chr1:210407800-210409800	Weak transcription	Right Ventricle	heart
11	chr1:210407800-210410000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr1:210407800-210410000	Weak transcription	Left Ventricle	heart
13	chr1:210407800-210410200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr1:210407800-210410400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr1:210407800-210411600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr1:210407800-210424000	Weak transcription	Colonic Mucosa	Colon
17	chr1:210407800-210424000	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr1:210407800-210424200	Weak transcription	Pancreas	Pancrea
19	chr1:210408000-210408400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
20	chr1:210408000-210408400	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
21	chr1:210408000-210408400	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
22	chr1:210408000-210408400	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr1:210408000-210408400	Enhancers	HMEC	breast
24	chr1:210408000-210408600	Bivalent Enhancer	Fetal Heart	heart
25	chr1:210408000-210408800	Bivalent Enhancer	Fetal Brain Female	brain
26	chr1:210408000-210409600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr1:210408000-210409600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr1:210408000-210409600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr1:210408000-210409600	Weak transcription	Right Atrium	heart
30	chr1:210408000-210409600	Enhancers	NH-A	brain
31	chr1:210408000-210409800	Weak transcription	Muscle Satellite Cultured Cells	--
32	chr1:210408000-210409800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr1:210408000-210409800	Weak transcription	HSMMtube	muscle
34	chr1:210408000-210410000	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr1:210408000-210410200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr1:210408000-210410200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr1:210408000-210410200	Weak transcription	Lung	lung
38	chr1:210408000-210410400	Weak transcription	NHEK	skin
39	chr1:210408000-210411600	Enhancers	Thymus	Thymus
40	chr1:210408000-210418200	Weak transcription	Esophagus	oesophagus
41	chr1:210408000-210424000	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr1:210408200-210408400	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
43	chr1:210408200-210408400	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
44	chr1:210408200-210408400	Enhancers	Brain Anterior Caudate	brain
45	chr1:210408200-210408400	Enhancers	Brain Hippocampus Middle	brain
46	chr1:210408200-210408400	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
47	chr1:210408200-210408600	Bivalent Enhancer	Brain Germinal Matrix	brain
48	chr1:210408200-210409200	Weak transcription	Adipose Nuclei	Adipose
49	chr1:210408200-210409200	Weak transcription	Brain Substantia Nigra	brain
50	chr1:210408200-210409600	Weak transcription	Brain Cingulate Gyrus	brain

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