Variant report

Variant	rs41453448
Chromosome Location	chr1:61824389-61824390
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	chr1:61809209..61811913-chr1:61823172..61825226,2	K562	blood:
2	chr1:61821605..61824601-chr1:61847526..61850025,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs1125777	0.90[LWK][hapmap];1.00[YRI][hapmap]
rs2024789	1.00[YRI][hapmap]
rs41350144	0.86[YRI][hapmap]
rs7553528	0.85[AFR][1000 genomes]
rs7556462	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv994970	chr1:61693951-62199657	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv1006142	chr1:61696142-62119763	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv534980	chr1:61696142-62119763	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv916868	chr1:61700430-62119762	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv1001052	chr1:61702011-62090670	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
6	nsv817402	chr1:61703965-62119762	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
7	nsv1010797	chr1:61703966-62125970	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
8	nsv530494	chr1:61723918-62084045	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
9	nsv1000294	chr1:61746280-62350718	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
10	nsv1014023	chr1:61788310-61859074	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	nsv534981	chr1:61788310-61859074	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Bipolar disorder	22925353	GWAS catalog

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs41453448	DAB1	cis	cerebellum	SCAN

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:61801200-61824600	Weak transcription	Gastric	stomach
2	chr1:61804400-61851400	Weak transcription	Small Intestine	intestine
3	chr1:61804400-61854600	Weak transcription	Placenta	Placenta
4	chr1:61805800-61848800	Weak transcription	Pancreas	Pancrea
5	chr1:61810200-61824600	Weak transcription	Primary hematopoietic stem cells	blood
6	chr1:61810200-61827600	Weak transcription	Brain Germinal Matrix	brain
7	chr1:61810400-61828000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr1:61810600-61824400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr1:61810600-61828000	Weak transcription	Rectal Smooth Muscle	rectum
10	chr1:61810600-61831600	Weak transcription	Stomach Mucosa	stomach
11	chr1:61810800-61824400	Weak transcription	Brain Anterior Caudate	brain
12	chr1:61810800-61827800	Weak transcription	Brain Cingulate Gyrus	brain
13	chr1:61813800-61829800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr1:61814000-61848800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr1:61814600-61841200	Weak transcription	Psoas Muscle	Psoas
16	chr1:61814600-61848800	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr1:61814800-61827800	Weak transcription	Brain Substantia Nigra	brain
18	chr1:61818400-61827400	Strong transcription	Cortex derived primary cultured neurospheres	brain
19	chr1:61818600-61837600	Weak transcription	Fetal Brain Male	brain
20	chr1:61818800-61824400	Weak transcription	HMEC	breast
21	chr1:61818800-61824800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr1:61818800-61835800	Weak transcription	Esophagus	oesophagus
23	chr1:61819000-61824400	Weak transcription	A549	lung
24	chr1:61819000-61832800	Weak transcription	Brain Angular Gyrus	brain
25	chr1:61819000-61848800	Weak transcription	Lung	lung
26	chr1:61819200-61824400	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr1:61819200-61824600	Weak transcription	Aorta	Aorta
28	chr1:61819200-61824600	Weak transcription	Hela-S3	cervix
29	chr1:61819200-61824800	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr1:61819200-61832800	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr1:61819600-61824600	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr1:61819800-61824800	Weak transcription	Fetal Brain Female	brain
33	chr1:61819800-61824800	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr1:61820200-61824600	Weak transcription	Ovary	ovary
35	chr1:61820400-61824400	Weak transcription	Fetal Lung	lung
36	chr1:61820400-61824600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr1:61820600-61827600	Weak transcription	Brain Hippocampus Middle	brain
38	chr1:61820600-61834600	Weak transcription	Skeletal Muscle Female	skeletal muscle
39	chr1:61820600-61836400	Weak transcription	Duodenum Mucosa	Duodenum
40	chr1:61820600-61840600	Weak transcription	NHEK	skin
41	chr1:61820600-61848800	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr1:61820800-61824400	Weak transcription	Adipose Nuclei	Adipose
43	chr1:61821000-61827600	Strong transcription	Fetal Muscle Leg	muscle
44	chr1:61822000-61824400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr1:61822000-61825400	Enhancers	HUVEC	blood vessel
46	chr1:61822200-61827400	Strong transcription	HepG2	liver
47	chr1:61822600-61828200	Strong transcription	Fetal Intestine Large	intestine
48	chr1:61822800-61826200	Strong transcription	Fetal Stomach	stomach
49	chr1:61822800-61831600	Strong transcription	Liver	Liver
50	chr1:61823000-61828200	Strong transcription	Fetal Muscle Trunk	muscle

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