Variant report

Variant	rs7011185
Chromosome Location	chr8:126283766-126283767
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:126282715..126285336-chr8:126442503..126444209,2	MCF-7	breast:
2	chr8:126281825..126283978-chr8:126442164..126443779,2	K562	blood:

Variant related genes	Relation type
ENSG00000173334	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10086862	0.86[CEU][hapmap];0.89[JPT][hapmap];0.88[ASN][1000 genomes]
rs10095360	0.93[ASN][1000 genomes]
rs10101690	0.93[CEU][hapmap];0.89[JPT][hapmap];0.89[ASN][1000 genomes]
rs10108305	0.89[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs10112737	0.84[JPT][hapmap]
rs10505454	0.86[CEU][hapmap]
rs10956234	0.86[CEU][hapmap];0.89[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10956235	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10956236	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16900488	0.84[JPT][hapmap]
rs4279612	0.86[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4294203	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4339663	0.87[ASN][1000 genomes]
rs4350000	0.86[ASW][hapmap];0.90[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4464986	0.86[CEU][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];0.88[ASN][1000 genomes]
rs4481616	0.86[CEU][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4565472	1.00[CEU][hapmap];0.89[JPT][hapmap];0.89[ASN][1000 genomes]
rs4601329	1.00[LWK][hapmap]
rs4604454	0.81[JPT][hapmap]
rs4871588	0.86[CEU][hapmap]
rs6470346	0.91[ASN][1000 genomes]
rs6470349	0.85[CEU][hapmap]
rs6985411	0.86[CEU][hapmap];0.84[CHD][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6991820	0.86[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6995986	0.93[CEU][hapmap];0.84[JPT][hapmap]
rs7004468	0.85[CEU][hapmap]
rs7008046	1.00[CEU][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];0.89[ASN][1000 genomes]
rs7017794	0.93[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7812933	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7813432	0.93[CEU][hapmap];0.89[JPT][hapmap];0.89[ASN][1000 genomes]
rs7843098	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7844459	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7845165	1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs9297714	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
2	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
3	esv3419040	chr8:126271495-126339914	Enhancers Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv891436	chr8:126283766-126345076	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7011185	HAS2	cis	cerebellum	SCAN

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126255400-126287800	Weak transcription	Primary B cells from cord blood	blood
2	chr8:126261400-126286000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr8:126262200-126288200	Weak transcription	Ovary	ovary
4	chr8:126264800-126310600	Weak transcription	Aorta	Aorta
5	chr8:126265600-126296600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr8:126272800-126283800	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr8:126273600-126285200	Weak transcription	Stomach Mucosa	stomach
8	chr8:126275400-126284600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr8:126275600-126284600	Weak transcription	Primary T helper cells PMA-I stimulated	--
10	chr8:126275600-126285200	Weak transcription	Primary T cells from cord blood	blood
11	chr8:126275600-126286000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr8:126275800-126289000	Weak transcription	Dnd41	blood
13	chr8:126276800-126285800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr8:126276800-126286000	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr8:126277000-126285400	Weak transcription	Thymus	Thymus
16	chr8:126277000-126285800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr8:126278000-126286000	Weak transcription	Fetal Thymus	thymus
18	chr8:126278400-126285200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr8:126280000-126289800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr8:126280200-126285200	Weak transcription	Right Atrium	heart
21	chr8:126281200-126283800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr8:126281200-126285200	Weak transcription	Primary neutrophils fromperipheralblood	blood
23	chr8:126281200-126285400	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr8:126281400-126285200	Weak transcription	Primary monocytes fromperipheralblood	blood
25	chr8:126281400-126285200	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr8:126281600-126285200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr8:126281600-126285200	Weak transcription	Esophagus	oesophagus
28	chr8:126281600-126286000	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr8:126282800-126284000	Enhancers	Hela-S3	cervix
30	chr8:126282800-126286200	Enhancers	Placenta Amnion	Placenta Amnion
31	chr8:126283000-126285000	Weak transcription	Psoas Muscle	Psoas
32	chr8:126283000-126285200	Weak transcription	Left Ventricle	heart
33	chr8:126283200-126284600	Weak transcription	Fetal Heart	heart
34	chr8:126283400-126284000	Enhancers	HSMM	muscle
35	chr8:126283400-126284200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr8:126283400-126284200	Enhancers	NH-A	brain
37	chr8:126283400-126286400	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr8:126283400-126286800	Enhancers	HMEC	breast
39	chr8:126283400-126287000	Enhancers	Fetal Intestine Large	intestine
40	chr8:126283400-126288000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr8:126283400-126292600	Enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr8:126283600-126283800	Enhancers	Brain Hippocampus Middle	brain
43	chr8:126283600-126283800	Enhancers	Brain Substantia Nigra	brain
44	chr8:126283600-126283800	Enhancers	Fetal Kidney	kidney
45	chr8:126283600-126284000	Enhancers	ES-I3 Cell Line	embryonic stem cell
46	chr8:126283600-126284000	Flanking Active TSS	K562	blood
47	chr8:126283600-126284200	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr8:126283600-126284200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr8:126283600-126284200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr8:126283600-126284200	Flanking Active TSS	A549	lung

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