Variant report

Variant	rs41317509
Chromosome Location	chr1:186159947-186159948
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:186152958..186154907-chr1:186156624..186160486,3	K562	blood:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs67079542	1.00[AFR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3424090	chr1:185679718-186270877	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv1004481	chr1:186095854-186750968	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	nsv535223	chr1:186095854-186750968	Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
4	nsv1007237	chr1:186137724-186226502	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv1009149	chr1:186147945-186206188	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
6	nsv1002503	chr1:186156060-186206188	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Active TSS	Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
7	nsv1003070	chr1:186157240-186202008	Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:186114600-186160800	Weak transcription	Fetal Kidney	kidney
2	chr1:186133600-186160800	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr1:186153000-186160600	Weak transcription	Spleen	Spleen
4	chr1:186157400-186160000	Weak transcription	Ovary	ovary
5	chr1:186157400-186161200	Weak transcription	Esophagus	oesophagus
6	chr1:186157400-186163200	Weak transcription	Fetal Brain Male	brain
7	chr1:186157600-186161800	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr1:186157600-186165000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr1:186157800-186160800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr1:186158800-186161800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr1:186158800-186171200	Weak transcription	NHLF	lung
12	chr1:186159000-186160800	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr1:186159000-186161000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr1:186159000-186161000	Weak transcription	Left Ventricle	heart
15	chr1:186159000-186163200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
16	chr1:186159000-186164600	Weak transcription	Osteobl	bone
17	chr1:186159000-186167400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr1:186159200-186160600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr1:186159200-186160600	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr1:186159200-186160800	Weak transcription	Liver	Liver
21	chr1:186159200-186161000	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr1:186159200-186161000	Weak transcription	HMEC	breast
23	chr1:186159200-186162400	Weak transcription	Adipose Nuclei	Adipose
24	chr1:186159200-186164000	Weak transcription	NHDF-Ad	bronchial
25	chr1:186159200-186164200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr1:186159200-186164600	Weak transcription	NH-A	brain
27	chr1:186159200-186164800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr1:186159200-186171000	Weak transcription	Fetal Lung	lung
29	chr1:186159400-186160200	Weak transcription	Aorta	Aorta
30	chr1:186159400-186161200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links