Variant report

Variant	rs4350000
Chromosome Location	chr8:126273825-126273826
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:126272501..126275279-chr8:126275432..126278029,2	MCF-7	breast:
2	chr8:126268163..126270276-chr8:126271842..126273931,2	MCF-7	breast:
3	chr8:126272014..126274936-chr8:126439430..126443589,3	MCF-7	breast:
4	chr4:83481988..83484509-chr8:126272393..126274695,2	MCF-7	breast:
5	chr8:126271453..126274338-chr8:126284581..126287313,3	MCF-7	breast:
6	chr8:126266479..126269155-chr8:126273088..126274738,2	MCF-7	breast:
7	chr8:126272432..126274189-chr8:126283876..126286401,2	MCF-7	breast:
8	chr8:126273675..126276572-chr8:126441769..126444596,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000249242	Chromatin interaction
ENSG00000173334	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10086862	0.89[JPT][hapmap]
rs10101690	0.89[JPT][hapmap]
rs10108305	0.90[CHD][hapmap];0.86[GIH][hapmap];0.94[JPT][hapmap]
rs10112737	0.84[JPT][hapmap]
rs10956234	0.85[CHD][hapmap];0.90[GIH][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs10956235	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs10956236	0.86[ASN][1000 genomes]
rs16900488	0.84[JPT][hapmap]
rs4279612	1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs4294203	0.85[AMR][1000 genomes]
rs4464986	0.85[CHD][hapmap];0.90[GIH][hapmap];0.89[JPT][hapmap];0.85[MEX][hapmap]
rs4481616	0.89[JPT][hapmap];1.00[YRI][hapmap];0.81[AMR][1000 genomes]
rs4565472	0.89[JPT][hapmap]
rs4604454	0.81[JPT][hapmap]
rs6985411	0.95[CHD][hapmap];0.89[JPT][hapmap];1.00[YRI][hapmap];0.81[ASN][1000 genomes]
rs6991820	1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.85[ASN][1000 genomes]
rs6995986	0.84[JPT][hapmap]
rs7008046	0.85[CHD][hapmap];0.90[GIH][hapmap];0.89[JPT][hapmap];0.85[MEX][hapmap]
rs7011185	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]
rs7017794	0.89[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7812933	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs7813432	0.89[JPT][hapmap]
rs7827795	0.81[ASN][1000 genomes]
rs7843098	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7844459	0.89[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7845165	1.00[JPT][hapmap]

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

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126239600-126274000	Weak transcription	Primary T cells fromperipheralblood	blood
2	chr8:126255400-126287800	Weak transcription	Primary B cells from cord blood	blood
3	chr8:126261400-126286000	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr8:126262200-126288200	Weak transcription	Ovary	ovary
5	chr8:126263400-126279000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr8:126264800-126310600	Weak transcription	Aorta	Aorta
7	chr8:126265600-126274800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr8:126265600-126296600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr8:126266200-126274000	Weak transcription	Fetal Thymus	thymus
10	chr8:126267400-126276400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr8:126267800-126274600	Weak transcription	Primary T cells from cord blood	blood
12	chr8:126267800-126276200	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr8:126268600-126280800	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr8:126271600-126275600	Weak transcription	Psoas Muscle	Psoas
15	chr8:126272200-126276400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr8:126272800-126279600	Weak transcription	A549	lung
17	chr8:126272800-126283200	Weak transcription	K562	blood
18	chr8:126272800-126283400	Weak transcription	HMEC	breast
19	chr8:126272800-126283600	Weak transcription	Fetal Intestine Small	intestine
20	chr8:126272800-126283800	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr8:126273200-126274000	Enhancers	iPS-15b Cell Line	embryonic stem cell
22	chr8:126273200-126274000	Enhancers	iPS-18 Cell Line	embryonic stem cell
23	chr8:126273200-126274200	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr8:126273400-126275600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
25	chr8:126273400-126275800	Enhancers	Dnd41	blood
26	chr8:126273600-126275600	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr8:126273600-126279400	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr8:126273600-126285200	Weak transcription	Stomach Mucosa	stomach
29	chr8:126273800-126274800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr8:126273800-126275600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
31	chr8:126273800-126280400	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr8:126273800-126280600	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr8:126273800-126283600	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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