Variant report

Variant	rs2513923
Chromosome Location	chr8:103825435-103825436
allele	C/T
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:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:103597181..103599862-chr8:103823976..103826204,2	K562	blood:
2	chr8:103541696..103544133-chr8:103825198..103827958,2	MCF-7	breast:
3	chr8:102462115..102464304-chr8:103824112..103827007,2	K562	blood:
4	chr8:103657627..103672045-chr8:103815832..103826635,94	K562	blood:
5	chr8:103659827..103671648-chr8:103816894..103829599,93	K562	blood:
6	chr8:103644446..103678119-chr8:103815618..103829807,419	MCF-7	breast:
7	chr8:102504262..102506500-chr8:103822604..103825982,3	MCF-7	breast:
8	chr8:103023024..103025926-chr8:103825006..103827127,2	K562	blood:
9	chr8:103685320..103687601-chr8:103824091..103826034,2	MCF-7	breast:
10	chr8:103249572..103251193-chr8:103822778..103825686,2	K562	blood:
11	chr8:103626178..103629397-chr8:103820874..103826100,7	MCF-7	breast:
12	chr8:103823562..103825489-chr8:103874490..103876820,2	K562	blood:
13	chr8:103653489..103674518-chr8:103809987..103832119,275	MCF-7	breast:
14	chr8:103823092..103825494-chr8:103875474..103877752,2	K562	blood:
15	chr8:103769141..103772135-chr8:103823545..103826009,2	K562	blood:
16	chr8:103422161..103424073-chr8:103822681..103825599,2	MCF-7	breast:
17	chr8:103249693..103252813-chr8:103822764..103825686,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000155096	Chromatin interaction
ENSG00000254024	Chromatin interaction
ENSG00000155090	Chromatin interaction
ENSG00000083307	Chromatin interaction
ENSG00000246263	Chromatin interaction
ENSG00000253320	Chromatin interaction
ENSG00000048392	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs1019976	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1062048	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10955294	0.89[YRI][hapmap]
rs17776569	0.87[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap]
rs1802539	0.94[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.84[ASN][1000 genomes]
rs1897787	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1982111	0.83[ASN][1000 genomes]
rs1991928	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2247355	0.93[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.84[ASN][1000 genomes]
rs2436849	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2436850	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2436851	0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2436854	0.95[CEU][hapmap];0.97[EUR][1000 genomes]
rs2436856	0.93[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs2436861	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2513876	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2513911	0.95[CEU][hapmap];0.93[CHB][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2513912	0.95[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2513915	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2513917	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2513920	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];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2513936	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2570941	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2570945	0.83[ASN][1000 genomes]
rs2570951	0.83[ASN][1000 genomes]
rs2570952	0.80[ASN][1000 genomes]
rs2679736	0.83[ASN][1000 genomes]
rs2679737	0.83[ASN][1000 genomes]
rs2679740	0.83[ASN][1000 genomes]
rs2679745	0.93[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.84[ASN][1000 genomes]
rs2679747	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2679750	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2679753	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2916559	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3018943	0.83[ASN][1000 genomes]
rs3018954	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34352733	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs565720	0.82[CHB][hapmap]
rs581610	0.80[CHB][hapmap];0.92[JPT][hapmap]
rs601088	0.87[CHB][hapmap];1.00[JPT][hapmap]
rs974758	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[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	esv33118	chr8:103358567-104068172	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
2	nsv1021898	chr8:103767324-103922482	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv465751	chr8:103817106-103894326	Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
4	nsv611822	chr8:103817106-103894326	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2513923	KB-1732A1.1	cis	Adipose Subcutaneous	GTEx

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103821600-103826400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr8:103822800-103826400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr8:103822800-103837400	Weak transcription	Gastric	stomach
4	chr8:103823000-103826200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr8:103823000-103826400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:103823000-103826400	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr8:103823000-103826600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr8:103823000-103826600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
9	chr8:103823000-103826600	Weak transcription	Fetal Muscle Trunk	muscle
10	chr8:103823000-103826800	Weak transcription	Left Ventricle	heart
11	chr8:103823000-103831600	Weak transcription	Monocytes-CD14+_RO01746	blood
12	chr8:103823000-103835600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr8:103823000-103835600	Weak transcription	Adipose Nuclei	Adipose
14	chr8:103823000-103837200	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr8:103823000-103839600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr8:103823000-103841400	Weak transcription	Pancreas	Pancrea
17	chr8:103823000-103855000	Weak transcription	Esophagus	oesophagus
18	chr8:103823200-103841800	Weak transcription	Aorta	Aorta
19	chr8:103823200-103844000	Weak transcription	Right Ventricle	heart
20	chr8:103823200-103853400	Weak transcription	Right Atrium	heart
21	chr8:103823400-103870600	Weak transcription	Stomach Mucosa	stomach
22	chr8:103823600-103826000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr8:103823600-103826000	Enhancers	Placenta	Placenta
24	chr8:103823600-103826200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr8:103823600-103826400	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr8:103823600-103826800	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr8:103823600-103826800	Weak transcription	Brain Anterior Caudate	brain
28	chr8:103823600-103826800	Weak transcription	Brain Cingulate Gyrus	brain
29	chr8:103823600-103826800	Weak transcription	Fetal Kidney	kidney
30	chr8:103823600-103826800	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr8:103823600-103827000	Enhancers	Hela-S3	cervix
32	chr8:103823600-103827200	Enhancers	Fetal Thymus	thymus
33	chr8:103823600-103827800	Enhancers	Duodenum Mucosa	Duodenum
34	chr8:103823600-103834800	Weak transcription	Fetal Brain Female	brain
35	chr8:103823600-103837400	Weak transcription	Brain Hippocampus Middle	brain
36	chr8:103823600-103838800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr8:103823600-103839800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr8:103823600-103840000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
39	chr8:103823800-103825800	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr8:103823800-103826400	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr8:103823800-103826400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr8:103823800-103826400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr8:103823800-103826400	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr8:103823800-103826400	Weak transcription	Fetal Muscle Leg	muscle
45	chr8:103823800-103826600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr8:103823800-103826600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr8:103823800-103826600	Weak transcription	Primary T helper cells fromperipheralblood	blood
48	chr8:103823800-103826600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr8:103823800-103826600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr8:103823800-103826600	Weak transcription	Colon Smooth Muscle	Colon

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