Variant report

Variant	rs10956234
Chromosome Location	chr8:126275593-126275594
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	chr8:126272501..126275279-chr8:126275432..126278029,2	MCF-7	breast:
2	chr8:126273675..126276572-chr8:126441769..126444596,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000173334	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10086862	1.00[CEU][hapmap];0.89[CHB][hapmap];0.89[JPT][hapmap];0.87[ASN][1000 genomes]
rs10095360	0.89[ASN][1000 genomes]
rs10101690	0.93[CEU][hapmap];0.89[CHB][hapmap];0.89[JPT][hapmap];0.88[ASN][1000 genomes]
rs10108305	0.95[CHD][hapmap];0.96[GIH][hapmap];0.94[JPT][hapmap];0.89[ASN][1000 genomes]
rs10112737	0.84[JPT][hapmap]
rs10956235	0.89[ASN][1000 genomes]
rs10956236	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16900488	0.84[JPT][hapmap]
rs4279612	1.00[CEU][hapmap];0.83[CHB][hapmap];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4294203	0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4339663	0.84[ASN][1000 genomes]
rs4350000	0.85[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs4464986	1.00[CEU][hapmap];0.89[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];0.87[ASN][1000 genomes]
rs4481616	1.00[CEU][hapmap];0.89[CHB][hapmap];0.89[JPT][hapmap];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4565472	0.85[CEU][hapmap];0.89[CHB][hapmap];0.89[JPT][hapmap];0.88[ASN][1000 genomes]
rs4604454	0.81[JPT][hapmap]
rs6470346	0.88[ASN][1000 genomes]
rs6985411	1.00[CEU][hapmap];0.84[CHB][hapmap];0.80[CHD][hapmap];0.89[JPT][hapmap];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6991820	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6995986	0.84[JPT][hapmap]
rs7008046	0.86[CEU][hapmap];0.89[CHB][hapmap];0.90[CHD][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];0.88[ASN][1000 genomes]
rs7011185	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]
rs7017794	0.93[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7812933	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7813432	0.93[CEU][hapmap];0.89[CHB][hapmap];0.89[JPT][hapmap];0.88[ASN][1000 genomes]
rs7824458	0.82[YRI][hapmap]
rs7843098	0.88[ASN][1000 genomes]
rs7844459	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7845165	0.89[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs9297714	0.88[ASN][1000 genomes]

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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10956234	HAS2	cis	cerebellum	SCAN

Chromatin state (count:40 , 50 per page) page: 1

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	chr8:126263400-126279000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr8:126264800-126310600	Weak transcription	Aorta	Aorta
6	chr8:126265600-126296600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr8:126267400-126276400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr8:126267800-126276200	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr8:126268600-126280800	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr8:126271600-126275600	Weak transcription	Psoas Muscle	Psoas
11	chr8:126272200-126276400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr8:126272800-126279600	Weak transcription	A549	lung
13	chr8:126272800-126283200	Weak transcription	K562	blood
14	chr8:126272800-126283400	Weak transcription	HMEC	breast
15	chr8:126272800-126283600	Weak transcription	Fetal Intestine Small	intestine
16	chr8:126272800-126283800	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr8:126273400-126275600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
18	chr8:126273400-126275800	Enhancers	Dnd41	blood
19	chr8:126273600-126275600	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr8:126273600-126279400	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr8:126273600-126285200	Weak transcription	Stomach Mucosa	stomach
22	chr8:126273800-126275600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
23	chr8:126273800-126280400	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr8:126273800-126280600	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr8:126273800-126283600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr8:126274000-126275600	Enhancers	Primary T helper naive cells from peripheral blood	blood
27	chr8:126274000-126275600	Enhancers	Primary T killer memory cells from peripheral blood	blood
28	chr8:126274000-126275800	Enhancers	Primary T cells fromperipheralblood	blood
29	chr8:126274000-126275800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
30	chr8:126274000-126275800	Enhancers	Primary T helper cells fromperipheralblood	blood
31	chr8:126274000-126276600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr8:126274000-126277000	Enhancers	Thymus	Thymus
33	chr8:126274000-126278000	Enhancers	Fetal Thymus	thymus
34	chr8:126274600-126275600	Enhancers	Primary T cells from cord blood	blood
35	chr8:126274800-126275600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
36	chr8:126274800-126275600	Enhancers	HUVEC	blood vessel
37	chr8:126275200-126277000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
38	chr8:126275200-126277800	Weak transcription	Lung	lung
39	chr8:126275400-126276000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
40	chr8:126275400-126284600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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