Variant report

Variant	rs7812933
Chromosome Location	chr8:126306419-126306420
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:126306226..126307841-chr8:126440492..126443071,2	K562	blood:
2	chr8:126298759..126300267-chr8:126304142..126306532,2	MCF-7	breast:
3	chr8:126305198..126307115-chr8:126309185..126311282,2	MCF-7	breast:
4	chr8:126290403..126294435-chr8:126303618..126306610,4	K562	blood:
5	chr8:126300520..126302327-chr8:126305625..126307763,2	K562	blood:

Variant related genes	Relation type
ENSG00000173334	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10086862	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10095360	0.96[ASN][1000 genomes]
rs10101690	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10108305	0.96[ASN][1000 genomes]
rs10956234	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10956235	1.00[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs10956236	0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4279612	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4294203	0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4350000	0.81[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs4464986	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4481616	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4565472	1.00[ASN][1000 genomes]
rs6415490	0.81[ASN][1000 genomes]
rs6470346	0.93[ASN][1000 genomes]
rs6985411	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6991820	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7008046	1.00[ASN][1000 genomes]
rs7011185	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7017794	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7813432	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7843098	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7844459	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7845165	0.94[ASN][1000 genomes]
rs9297714	0.86[EUR][1000 genomes];1.00[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

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126264800-126310600	Weak transcription	Aorta	Aorta
2	chr8:126291000-126321600	Weak transcription	Primary B cells from cord blood	blood
3	chr8:126291200-126321000	Weak transcription	Primary B cells from peripheral blood	blood
4	chr8:126298400-126306600	Weak transcription	Psoas Muscle	Psoas
5	chr8:126298400-126312800	Weak transcription	Gastric	stomach
6	chr8:126301400-126307000	Enhancers	GM12878-XiMat	blood
7	chr8:126301800-126307600	Weak transcription	Left Ventricle	heart
8	chr8:126301800-126309400	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr8:126301800-126312400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr8:126301800-126312600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr8:126301800-126314600	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr8:126301800-126319600	Weak transcription	Fetal Muscle Leg	muscle
13	chr8:126302000-126309400	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr8:126302000-126310600	Weak transcription	NH-A	brain
15	chr8:126302200-126318800	Weak transcription	Primary T cells from cord blood	blood
16	chr8:126302200-126318800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr8:126302600-126331000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr8:126303000-126308400	Weak transcription	HUVEC	blood vessel
19	chr8:126303000-126310600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr8:126303000-126312800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr8:126303000-126314600	Weak transcription	Right Atrium	heart
22	chr8:126303200-126307000	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr8:126303200-126314400	Weak transcription	Fetal Intestine Small	intestine
24	chr8:126303400-126306600	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr8:126303400-126309000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr8:126304400-126307000	Weak transcription	Duodenum Mucosa	Duodenum
27	chr8:126304400-126307000	Weak transcription	HepG2	liver
28	chr8:126304600-126307000	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr8:126304600-126308400	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr8:126304800-126308200	Enhancers	Fetal Heart	heart
31	chr8:126305200-126307000	Weak transcription	K562	blood
32	chr8:126305400-126306800	Weak transcription	A549	lung
33	chr8:126305400-126307800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr8:126305600-126307200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr8:126305600-126312600	Weak transcription	Fetal Thymus	thymus
36	chr8:126306000-126306800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr8:126306000-126307600	Enhancers	Pancreatic Islets	Pancreatic Islet
38	chr8:126306200-126306800	Enhancers	Small Intestine	intestine
39	chr8:126306400-126307800	Weak transcription	Primary neutrophils fromperipheralblood	blood

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