Variant report

Variant	rs7998005
Chromosome Location	chr13:76130603-76130604
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:76115839..76118347-chr13:76129572..76131579,2	K562	blood:
2	chr13:76123894..76126209-chr13:76129145..76131618,3	K562	blood:
3	chr13:76122653..76127194-chr13:76130432..76132318,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000261553	Chromatin interaction
ENSG00000188243	Chromatin interaction
ENSG00000118939	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1535725	1.00[AMR][1000 genomes]
rs4632012	1.00[AMR][1000 genomes]
rs4885320	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7330411	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7987763	1.00[AMR][1000 genomes]
rs7989770	1.00[AMR][1000 genomes]
rs7997260	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8001271	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9543975	0.80[AFR][1000 genomes]
rs9543982	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9543998	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9573583	1.00[AMR][1000 genomes]
rs973122	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

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	esv2761803	chr13:75943309-76161774	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv900562	chr13:76072743-76176680	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
3	nsv900563	chr13:76093935-76169347	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	nsv900564	chr13:76100090-76156136	Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv900565	chr13:76111280-76169347	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv900566	chr13:76123678-76153748	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv900567	chr13:76123678-76156136	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv900568	chr13:76123678-76159104	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS 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	6 gene(s)	inside rSNPs	diseases
9	nsv900569	chr13:76123678-76167433	Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	nsv900570	chr13:76123678-76176680	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv900571	chr13:76123678-76207565	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers 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	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:76124600-76183000	Weak transcription	Small Intestine	intestine
2	chr13:76124800-76130800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr13:76124800-76135200	Weak transcription	Pancreas	Pancrea
4	chr13:76124800-76146400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr13:76124800-76146600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr13:76124800-76146600	Weak transcription	Lung	lung
7	chr13:76124800-76147600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr13:76124800-76164000	Weak transcription	Spleen	Spleen
9	chr13:76124800-76167600	Weak transcription	Gastric	stomach
10	chr13:76124800-76170600	Weak transcription	Colonic Mucosa	Colon
11	chr13:76125000-76132400	Weak transcription	Brain Cingulate Gyrus	brain
12	chr13:76125000-76141400	Weak transcription	Fetal Lung	lung
13	chr13:76125000-76143400	Weak transcription	Stomach Smooth Muscle	stomach
14	chr13:76125000-76147600	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr13:76125000-76156200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr13:76125000-76158000	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr13:76125000-76192800	Weak transcription	Brain Substantia Nigra	brain
18	chr13:76125000-76209600	Weak transcription	Right Ventricle	heart
19	chr13:76125200-76132400	Weak transcription	A549	lung
20	chr13:76125200-76141000	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr13:76125200-76147200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr13:76125200-76147200	Weak transcription	Rectal Smooth Muscle	rectum
23	chr13:76125200-76147600	Weak transcription	Brain Angular Gyrus	brain
24	chr13:76125200-76173800	Weak transcription	Fetal Heart	heart
25	chr13:76125200-76177800	Weak transcription	Stomach Mucosa	stomach
26	chr13:76125400-76132400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr13:76125400-76132400	Weak transcription	HUVEC	blood vessel
28	chr13:76125400-76132800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr13:76125400-76136600	Weak transcription	Hela-S3	cervix
30	chr13:76125400-76138800	Weak transcription	Fetal Intestine Small	intestine
31	chr13:76125400-76143000	Weak transcription	Brain Hippocampus Middle	brain
32	chr13:76125400-76143000	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr13:76125400-76143200	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr13:76125400-76147000	Weak transcription	Brain Germinal Matrix	brain
35	chr13:76125400-76147600	Weak transcription	Brain Anterior Caudate	brain
36	chr13:76125400-76191000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr13:76125600-76158000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr13:76125600-76182000	Weak transcription	Fetal Brain Male	brain
39	chr13:76126000-76132400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr13:76126400-76131000	Strong transcription	NH-A	brain
41	chr13:76126400-76136800	Strong transcription	HSMM	muscle
42	chr13:76126600-76132600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr13:76126600-76140200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
44	chr13:76126800-76134800	Weak transcription	HepG2	liver
45	chr13:76127200-76131000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr13:76127200-76132200	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr13:76127400-76131000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr13:76127600-76131200	Strong transcription	Osteobl	bone
49	chr13:76127600-76131400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr13:76127600-76131400	Strong transcription	Fetal Thymus	thymus

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