Variant report

Variant	rs7015414
Chromosome Location	chr8:126351430-126351431
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:126350898..126353374-chr8:126424656..126426383,2	MCF-7	breast:
2	chr8:126344782..126348434-chr8:126350693..126355502,7	K562	blood:
3	chr8:126349312..126351849-chr8:126441416..126443762,2	K562	blood:
4	chr8:126349657..126352524-chr8:126353800..126356280,3	K562	blood:
5	chr8:126350838..126353638-chr8:126441214..126443974,2	MCF-7	breast:
6	chr8:126348698..126351560-chr8:126363326..126365712,2	K562	blood:

Variant related genes	Relation type
ENSG00000173334	Chromatin interaction
ENSG00000254431	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10099164	0.93[ASN][1000 genomes]
rs10108110	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10112737	0.84[CHD][hapmap]
rs10505454	0.88[JPT][hapmap]
rs10808543	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4242368	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4534140	0.84[CEU][hapmap]
rs4602904	0.84[CHD][hapmap];0.83[JPT][hapmap]
rs4604454	0.81[CEU][hapmap]
rs4871584	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4871588	0.82[JPT][hapmap]
rs6470349	0.88[JPT][hapmap]
rs6981550	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6989407	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7004468	0.82[JPT][hapmap]
rs7010333	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7814083	0.94[ASN][1000 genomes]
rs7818760	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7819612	0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7820471	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[TSI][hapmap];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7823958	0.81[EUR][1000 genomes]
rs7835771	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7841947	1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[JPT][hapmap];0.89[TSI][hapmap];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7844497	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[TSI][hapmap];0.99[EUR][1000 genomes];0.98[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	nsv949614	chr8:126063646-126376699	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
2	esv3410448	chr8:126339813-126418053	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7015414	HAS2	cis	cerebellum	SCAN

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126318600-126354600	Weak transcription	Ovary	ovary
2	chr8:126322000-126374200	Weak transcription	Aorta	Aorta
3	chr8:126324200-126354200	Weak transcription	Hela-S3	cervix
4	chr8:126330800-126369200	Weak transcription	Primary T helper cells fromperipheralblood	blood
5	chr8:126331200-126357400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr8:126332600-126369400	Weak transcription	Fetal Stomach	stomach
7	chr8:126333000-126354200	Weak transcription	Fetal Lung	lung
8	chr8:126335600-126353200	Weak transcription	Primary B cells from cord blood	blood
9	chr8:126336600-126354200	Weak transcription	Spleen	Spleen
10	chr8:126340000-126354200	Weak transcription	Esophagus	oesophagus
11	chr8:126340000-126359600	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr8:126341600-126354200	Weak transcription	Lung	lung
13	chr8:126342000-126369400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
14	chr8:126342400-126355000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr8:126344400-126352200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr8:126344600-126362400	Weak transcription	Primary T cells from cord blood	blood
17	chr8:126344800-126353800	Weak transcription	Duodenum Mucosa	Duodenum
18	chr8:126345200-126353400	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr8:126346600-126351800	Enhancers	GM12878-XiMat	blood
20	chr8:126346800-126351600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr8:126346800-126351800	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr8:126346800-126351800	Weak transcription	NH-A	brain
23	chr8:126346800-126352000	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr8:126346800-126353000	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr8:126346800-126353200	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr8:126346800-126353400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr8:126346800-126353400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr8:126346800-126353800	Weak transcription	Fetal Intestine Small	intestine
29	chr8:126346800-126354200	Weak transcription	Brain Substantia Nigra	brain
30	chr8:126346800-126354200	Weak transcription	Rectal Smooth Muscle	rectum
31	chr8:126346800-126354400	Weak transcription	Brain Anterior Caudate	brain
32	chr8:126346800-126354400	Weak transcription	Brain Hippocampus Middle	brain
33	chr8:126346800-126354400	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr8:126346800-126354400	Weak transcription	Thymus	Thymus
35	chr8:126347000-126353800	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr8:126347000-126354000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr8:126347000-126354400	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr8:126347000-126354600	Weak transcription	Right Atrium	heart
39	chr8:126347000-126354800	Weak transcription	Fetal Muscle Leg	muscle
40	chr8:126347400-126353400	Weak transcription	HSMM	muscle
41	chr8:126347600-126351600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr8:126347600-126352000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr8:126347600-126353000	Weak transcription	HSMMtube	muscle
44	chr8:126347600-126353200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
45	chr8:126347600-126354000	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr8:126348000-126354600	Weak transcription	Fetal Heart	heart
47	chr8:126348200-126354200	Weak transcription	HepG2	liver
48	chr8:126348800-126353800	Weak transcription	Fetal Intestine Large	intestine
49	chr8:126348800-126369800	Weak transcription	Gastric	stomach
50	chr8:126349200-126353600	Weak transcription	K562	blood

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