Variant report

Variant	rs13253319
Chromosome Location	chr8:125543487-125543488
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:125487117..125490518-chr8:125542261..125547751,5	K562	blood:
2	chr8:125484651..125489587-chr8:125535041..125543731,11	K562	blood:
3	chr8:125542543..125545366-chr8:125564681..125567341,2	MCF-7	breast:
4	chr8:125543458..125545211-chr8:125571140..125573606,2	MCF-7	breast:
5	chr8:125482386..125490832-chr8:125532319..125553620,55	MCF-7	breast:
6	chr8:125543036..125544991-chr8:125560441..125563068,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000147684	Chromatin interaction
ENSG00000170881	Chromatin interaction
ENSG00000245149	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10195	0.86[ASN][1000 genomes]
rs10956186	0.97[ASN][1000 genomes]
rs16899643	0.97[ASN][1000 genomes]
rs16899656	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.97[ASN][1000 genomes]
rs16899660	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs16899663	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs3812470	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.97[ASN][1000 genomes]
rs3812473	1.00[CHB][hapmap];0.90[JPT][hapmap];0.81[YRI][hapmap];0.91[ASN][1000 genomes]
rs3829033	0.87[ASN][1000 genomes]
rs3829037	0.85[CEU][hapmap];0.88[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4330675	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.97[ASN][1000 genomes]
rs4527852	1.00[CHB][hapmap];0.90[JPT][hapmap];0.81[YRI][hapmap];0.91[ASN][1000 genomes]
rs4613980	0.90[ASN][1000 genomes]
rs4621790	0.90[ASN][1000 genomes]
rs57929284	0.97[ASN][1000 genomes]
rs6981043	1.00[CHB][hapmap];0.89[JPT][hapmap];0.91[ASN][1000 genomes]
rs6989097	0.97[ASN][1000 genomes]
rs6997089	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.97[ASN][1000 genomes]
rs7017148	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs71516748	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72713032	0.91[ASN][1000 genomes]
rs72713042	0.91[ASN][1000 genomes]
rs72713045	0.91[ASN][1000 genomes]
rs72713053	0.91[ASN][1000 genomes]
rs72713055	0.97[ASN][1000 genomes]
rs72713071	0.97[ASN][1000 genomes]
rs72713073	0.97[ASN][1000 genomes]
rs72713075	0.97[ASN][1000 genomes]
rs72713077	0.97[ASN][1000 genomes]
rs72713084	0.97[ASN][1000 genomes]
rs72713096	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72713098	0.89[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72714708	0.87[ASN][1000 genomes]
rs73704274	0.91[ASN][1000 genomes]
rs9643197	1.00[CHB][hapmap];0.91[JPT][hapmap];0.82[YRI][hapmap];0.91[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531508	chr8:125390194-125587953	Flanking Active TSS Strong transcription Enhancers Weak transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	84 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125488200-125550400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:125496600-125549600	Weak transcription	Rectal Smooth Muscle	rectum
3	chr8:125496800-125547400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr8:125500000-125549600	Weak transcription	Fetal Brain Male	brain
5	chr8:125501600-125550000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
6	chr8:125504000-125550800	Weak transcription	Spleen	Spleen
7	chr8:125516200-125543600	Weak transcription	Aorta	Aorta
8	chr8:125516200-125549600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr8:125516200-125549600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr8:125516400-125549600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr8:125519200-125550000	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr8:125520000-125550600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr8:125525200-125549600	Weak transcription	Brain Germinal Matrix	brain
14	chr8:125527600-125550200	Weak transcription	Fetal Brain Female	brain
15	chr8:125528000-125550400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr8:125529200-125543600	Weak transcription	Fetal Muscle Trunk	muscle
17	chr8:125529200-125544000	Weak transcription	Fetal Stomach	stomach
18	chr8:125531400-125547400	Weak transcription	Primary T helper cells PMA-I stimulated	--
19	chr8:125531400-125550000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr8:125531600-125543600	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr8:125531600-125544200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr8:125531600-125548400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr8:125531600-125550000	Weak transcription	Fetal Lung	lung
24	chr8:125532000-125544000	Weak transcription	Stomach Smooth Muscle	stomach
25	chr8:125532200-125543800	Weak transcription	Placenta	Placenta
26	chr8:125532200-125544000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr8:125535800-125550000	Weak transcription	Thymus	Thymus
28	chr8:125537200-125544000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr8:125537200-125544400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr8:125537200-125550400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr8:125537800-125550400	Weak transcription	Esophagus	oesophagus
32	chr8:125538000-125543800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr8:125538000-125544200	Enhancers	Fetal Intestine Small	intestine
34	chr8:125538200-125549600	Weak transcription	HUVEC	blood vessel
35	chr8:125538400-125544400	Enhancers	Fetal Intestine Large	intestine
36	chr8:125538400-125544400	Enhancers	Rectal Mucosa Donor 31	rectum
37	chr8:125538400-125545000	Weak transcription	Ovary	ovary
38	chr8:125538400-125549800	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr8:125539000-125543800	Weak transcription	Brain Cingulate Gyrus	brain
40	chr8:125539000-125549400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr8:125539400-125545000	Weak transcription	NHLF	lung
42	chr8:125539400-125549800	Weak transcription	Pancreatic Islets	Pancreatic Islet
43	chr8:125539600-125544000	Enhancers	Sigmoid Colon	Sigmoid Colon
44	chr8:125539600-125549600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr8:125539800-125549000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr8:125539800-125550200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr8:125540000-125543600	Weak transcription	Primary monocytes fromperipheralblood	blood
48	chr8:125540000-125543800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr8:125540000-125545000	Weak transcription	Primary neutrophils fromperipheralblood	blood
50	chr8:125540000-125550000	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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