Variant report

Variant	rs17015006
Chromosome Location	chr1:209828239-209828240
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	GTF2B	chr1:209828049-209828244	K562	blood:	n/a	n/a
2	WRNIP1	chr1:209828196-209828394	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:209827715..209829703-chr1:209846505..209848191,2	K562	blood:
2	chr1:209826986..209829797-chr1:209836745..209839561,2	MCF-7	breast:

Variant related genes	Relation type
LAMB3	TF binding region

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10489340	0.82[AMR][1000 genomes]
rs12073223	0.82[AMR][1000 genomes]
rs12089972	0.95[AMR][1000 genomes]
rs12090288	0.82[AMR][1000 genomes]
rs17014906	1.00[MEX][hapmap];0.82[AMR][1000 genomes]
rs17014942	1.00[MEX][hapmap];0.82[AMR][1000 genomes]
rs17014955	0.82[AMR][1000 genomes]
rs2072937	0.82[AMR][1000 genomes]
rs2072939	0.82[MEX][hapmap]
rs2072942	0.86[AMR][1000 genomes]
rs2076219	0.82[AMR][1000 genomes]
rs2076222	1.00[MEX][hapmap];0.82[AMR][1000 genomes]
rs2076232	0.82[AMR][1000 genomes]
rs2076347	0.82[AMR][1000 genomes]
rs2076348	0.82[AMR][1000 genomes]
rs2076352	0.82[MEX][hapmap]
rs2229465	0.82[MEX][hapmap]
rs2229466	0.82[AMR][1000 genomes]
rs2235542	1.00[MEX][hapmap];0.86[AMR][1000 genomes]
rs2236889	0.82[AMR][1000 genomes]
rs2236890	0.82[AMR][1000 genomes]
rs2282734	0.86[AMR][1000 genomes]
rs2282736	0.86[AMR][1000 genomes]
rs2282737	0.86[AMR][1000 genomes]
rs36051870	0.95[AMR][1000 genomes]
rs58679997	0.82[AMR][1000 genomes]
rs59815577	0.82[AMR][1000 genomes]
rs60927005	0.82[AMR][1000 genomes]
rs714971	0.82[AMR][1000 genomes]
rs846906	1.00[MKK][hapmap]

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	nsv999901	chr1:209600631-210205379	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	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
3	esv2762140	chr1:209816331-209830347	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:209819200-209831200	Enhancers	Pancreas	Pancrea
2	chr1:209823000-209836200	Weak transcription	Ovary	ovary
3	chr1:209825000-209830200	Weak transcription	HUVEC	blood vessel
4	chr1:209825000-209830600	Weak transcription	Aorta	Aorta
5	chr1:209825600-209828400	Enhancers	Left Ventricle	heart
6	chr1:209825600-209828400	Enhancers	K562	blood
7	chr1:209826000-209829400	Enhancers	Fetal Lung	lung
8	chr1:209826200-209828400	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
9	chr1:209826200-209831000	Enhancers	Placenta Amnion	Placenta Amnion
10	chr1:209826400-209828400	Enhancers	Fetal Thymus	thymus
11	chr1:209826600-209829200	Weak transcription	Fetal Brain Female	brain
12	chr1:209826600-209834200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr1:209826800-209830600	Weak transcription	Spleen	Spleen
14	chr1:209827000-209828600	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr1:209827000-209829800	Weak transcription	Osteobl	bone
16	chr1:209827000-209830400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr1:209827000-209830600	Weak transcription	Adipose Nuclei	Adipose
18	chr1:209827000-209831200	Enhancers	Hela-S3	cervix
19	chr1:209827000-209832400	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr1:209827200-209828400	Weak transcription	Fetal Brain Male	brain
21	chr1:209827200-209828400	Bivalent Enhancer	Fetal Muscle Leg	muscle
22	chr1:209827200-209828400	Enhancers	Gastric	stomach
23	chr1:209827200-209830600	Weak transcription	NH-A	brain
24	chr1:209827200-209832000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr1:209827200-209832200	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr1:209827200-209832400	Enhancers	Duodenum Mucosa	Duodenum
27	chr1:209827400-209828800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr1:209827400-209829800	Enhancers	Rectal Mucosa Donor 31	rectum
29	chr1:209827400-209833600	Enhancers	Fetal Intestine Large	intestine
30	chr1:209827400-209833800	Enhancers	Fetal Intestine Small	intestine
31	chr1:209827600-209828600	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr1:209827600-209828600	Enhancers	Small Intestine	intestine
33	chr1:209827600-209829000	Weak transcription	Lung	lung
34	chr1:209827600-209831200	Enhancers	Stomach Mucosa	stomach
35	chr1:209827600-209832200	Weak transcription	Right Atrium	heart
36	chr1:209827800-209828400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr1:209827800-209828400	Enhancers	Sigmoid Colon	Sigmoid Colon
38	chr1:209827800-209828400	Bivalent Enhancer	HepG2	liver
39	chr1:209827800-209828800	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr1:209827800-209829200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr1:209827800-209831000	Weak transcription	Right Ventricle	heart
42	chr1:209827800-209832600	Enhancers	Liver	Liver
43	chr1:209828000-209828800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr1:209828000-209829000	Weak transcription	Psoas Muscle	Psoas
45	chr1:209828000-209829000	Enhancers	HMEC	breast
46	chr1:209828000-209829200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr1:209828000-209829400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr1:209828000-209830600	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr1:209828000-209830600	Weak transcription	GM12878-XiMat	blood
50	chr1:209828200-209828600	Weak transcription	Brain Germinal Matrix	brain

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