Variant report

Variant	rs13258916
Chromosome Location	chr8:57889807-57889808
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	chr8:57884164..57885822-chr8:57887000..57889844,2	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10003	0.83[CEU][hapmap]
rs1044731	0.83[CEU][hapmap]
rs10504211	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10504212	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10808910	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10958514	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10958515	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11778484	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11779511	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12056416	0.84[CEU][hapmap]
rs12678538	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13275472	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13277865	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1396115	0.85[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1396116	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1396117	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1605556	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16921462	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16921483	0.84[CEU][hapmap];0.88[YRI][hapmap];0.82[AFR][1000 genomes]
rs16921485	0.82[AFR][1000 genomes]
rs2135987	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34020186	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs36065736	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4738558	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55659168	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs967930	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029443	chr8:57748114-58057656	Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
2	esv3430321	chr8:57858417-58055129	Strong transcription Genic enhancers Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:57866400-57902600	Weak transcription	Pancreas	Pancrea
2	chr8:57866800-57890000	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr8:57868800-57895800	Weak transcription	Spleen	Spleen
4	chr8:57869000-57896000	Weak transcription	Esophagus	oesophagus
5	chr8:57870800-57892000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr8:57872800-57891800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr8:57872800-57892800	Strong transcription	Dnd41	blood
8	chr8:57874400-57896000	Weak transcription	Right Ventricle	heart
9	chr8:57874600-57890000	Weak transcription	Brain Angular Gyrus	brain
10	chr8:57874800-57892000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr8:57874800-57896000	Weak transcription	Small Intestine	intestine
12	chr8:57874800-57903800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr8:57874800-57904400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr8:57875200-57892400	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr8:57876600-57903200	Weak transcription	Fetal Brain Male	brain
16	chr8:57876600-57904000	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr8:57877200-57905200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr8:57878800-57890000	Weak transcription	Brain Cingulate Gyrus	brain
19	chr8:57878800-57890000	Weak transcription	Brain Hippocampus Middle	brain
20	chr8:57878800-57890000	Weak transcription	NHDF-Ad	bronchial
21	chr8:57878800-57890200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr8:57878800-57893400	Weak transcription	Right Atrium	heart
23	chr8:57878800-57895800	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr8:57879000-57895800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr8:57879000-57896000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr8:57879000-57904600	Weak transcription	Fetal Intestine Small	intestine
27	chr8:57879400-57890200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr8:57879400-57895800	Weak transcription	Gastric	stomach
29	chr8:57879400-57896000	Weak transcription	Aorta	Aorta
30	chr8:57879600-57890000	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr8:57879600-57890200	Weak transcription	Rectal Smooth Muscle	rectum
32	chr8:57880200-57890000	Weak transcription	Thymus	Thymus
33	chr8:57880400-57890000	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr8:57880400-57890000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr8:57880400-57896000	Weak transcription	Psoas Muscle	Psoas
36	chr8:57880400-57904600	Weak transcription	Fetal Stomach	stomach
37	chr8:57881400-57891200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr8:57881800-57890000	Weak transcription	Osteobl	bone
39	chr8:57881800-57896000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr8:57883800-57897000	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr8:57884200-57892600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr8:57884200-57892800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr8:57884200-57893000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr8:57884400-57892800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
45	chr8:57884400-57892800	Strong transcription	Fetal Muscle Leg	muscle
46	chr8:57884400-57893200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
47	chr8:57884600-57892800	Strong transcription	Primary T cells fromperipheralblood	blood
48	chr8:57884800-57892800	Strong transcription	Primary T helper cells fromperipheralblood	blood
49	chr8:57885000-57893000	Strong transcription	Primary T cells from cord blood	blood
50	chr8:57885800-57893000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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