Variant report

Variant	rs41292657
Chromosome Location	chr1:94108028-94108029
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:94106443..94109001-chr1:94145542..94148365,4	MCF-7	breast:
2	chr1:94096748..94098935-chr1:94106081..94108705,3	K562	blood:

Variant related genes	Relation type
ENSG00000137936	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs17110195	1.00[ASN][1000 genomes]
rs17110198	1.00[ASN][1000 genomes]
rs17110248	1.00[ASN][1000 genomes]
rs17110252	1.00[ASN][1000 genomes]
rs17110298	1.00[ASN][1000 genomes]
rs56072327	1.00[ASN][1000 genomes]
rs56369705	1.00[ASN][1000 genomes]
rs57866435	1.00[ASN][1000 genomes]
rs59232020	1.00[ASN][1000 genomes]
rs74101645	1.00[ASN][1000 genomes]
rs74101646	1.00[ASN][1000 genomes]
rs74101655	1.00[ASN][1000 genomes]
rs74101658	1.00[ASN][1000 genomes]
rs74101664	1.00[ASN][1000 genomes]
rs74101673	1.00[ASN][1000 genomes]
rs74101674	1.00[ASN][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	nsv482370	chr1:94000799-94183692	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	esv2755338	chr1:94059579-94176079	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 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	chr1:94083400-94108200	Weak transcription	Esophagus	oesophagus
2	chr1:94088600-94118800	Weak transcription	Gastric	stomach
3	chr1:94091800-94117400	Weak transcription	Fetal Lung	lung
4	chr1:94094200-94120400	Weak transcription	Psoas Muscle	Psoas
5	chr1:94095600-94125400	Weak transcription	Colon Smooth Muscle	Colon
6	chr1:94097200-94108400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr1:94097400-94108600	Strong transcription	NHEK	skin
8	chr1:94097800-94111400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr1:94100000-94135800	Weak transcription	Fetal Stomach	stomach
10	chr1:94100400-94108600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr1:94100400-94112000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr1:94101600-94109800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr1:94101600-94128800	Weak transcription	Right Ventricle	heart
14	chr1:94101800-94110400	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr1:94102000-94108600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr1:94102000-94108600	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr1:94102000-94117200	Weak transcription	Lung	lung
18	chr1:94102000-94119800	Weak transcription	HSMMtube	muscle
19	chr1:94102000-94125400	Weak transcription	Fetal Kidney	kidney
20	chr1:94102000-94125600	Weak transcription	Fetal Muscle Trunk	muscle
21	chr1:94102600-94114200	Weak transcription	Brain Substantia Nigra	brain
22	chr1:94102600-94119200	Weak transcription	Fetal Intestine Small	intestine
23	chr1:94102800-94108200	Strong transcription	Fetal Muscle Leg	muscle
24	chr1:94102800-94119000	Weak transcription	Brain Angular Gyrus	brain
25	chr1:94103000-94121800	Weak transcription	Duodenum Mucosa	Duodenum
26	chr1:94103800-94108600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr1:94103800-94135800	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr1:94104200-94108600	Strong transcription	HUVEC	blood vessel
29	chr1:94104400-94108400	Strong transcription	NHLF	lung
30	chr1:94104800-94117600	Weak transcription	HepG2	liver
31	chr1:94105000-94108200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
32	chr1:94105000-94108200	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr1:94105000-94108200	Strong transcription	Hela-S3	cervix
34	chr1:94105000-94109200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr1:94105000-94109200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr1:94105000-94109600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr1:94105000-94110000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr1:94105000-94110200	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr1:94105000-94110400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr1:94105000-94110600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr1:94105000-94113800	Weak transcription	Brain Anterior Caudate	brain
42	chr1:94105000-94118200	Weak transcription	Cortex derived primary cultured neurospheres	brain
43	chr1:94105400-94108400	Strong transcription	Adipose Nuclei	Adipose
44	chr1:94105600-94108400	Strong transcription	Osteobl	bone
45	chr1:94105800-94108200	Strong transcription	NHDF-Ad	bronchial
46	chr1:94105800-94117200	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr1:94106000-94108600	Strong transcription	Placenta	Placenta
48	chr1:94106000-94108800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr1:94106400-94109200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr1:94106400-94126000	Weak transcription	Duodenum Smooth Muscle	Duodenum

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