Variant report

Variant	rs17500151
Chromosome Location	chr8:103078881-103078882
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	chr8:103077871..103079434-chr8:103084965..103087880,2	K562	blood:
2	chr8:103072599..103074575-chr8:103077448..103079035,2	MCF-7	breast:

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs13278875	1.00[ASN][1000 genomes]
rs1465164	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1465165	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1465166	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16868899	1.00[ASN][1000 genomes]
rs16869130	1.00[CEU][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16869132	0.89[CEU][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17414289	1.00[AFR][1000 genomes]
rs17414527	1.00[AFR][1000 genomes]
rs17414892	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17415702	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17415729	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17415778	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17416694	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17496928	1.00[ASN][1000 genomes]
rs17498430	1.00[ASN][1000 genomes]
rs17498920	1.00[ASN][1000 genomes]
rs17499768	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17500046	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17500306	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17500367	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17506740	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17506775	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17507464	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17507512	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34297513	1.00[ASN][1000 genomes]
rs34356268	1.00[ASN][1000 genomes]
rs35316247	1.00[ASN][1000 genomes]
rs3899035	1.00[ASN][1000 genomes]
rs72681127	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs72681128	1.00[ASN][1000 genomes]
rs72681129	1.00[ASN][1000 genomes]
rs72681131	1.00[ASN][1000 genomes]
rs72681134	1.00[ASN][1000 genomes]
rs72681136	1.00[ASN][1000 genomes]
rs72681138	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831411	chr8:102937991-103108140	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv891232	chr8:103001914-103138045	Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
3	nsv891233	chr8:103001914-103162638	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
4	nsv891234	chr8:103020391-103113701	Flanking Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
5	nsv891235	chr8:103032394-103162638	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
6	nsv891237	chr8:103039917-103113701	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv891238	chr8:103055520-103116959	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv891239	chr8:103056517-103162638	Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
9	nsv891240	chr8:103070301-103162638	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
10	esv2754264	chr8:103070824-103170824	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:103065400-103085800	Weak transcription	Primary T cells from cord blood	blood
2	chr8:103073400-103079800	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr8:103073400-103079800	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr8:103075800-103080600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:103076200-103080600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:103076400-103079200	Enhancers	Placenta	Placenta
7	chr8:103076600-103080600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr8:103076600-103082000	Weak transcription	Fetal Stomach	stomach
9	chr8:103076600-103088800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr8:103076600-103089200	Weak transcription	NHDF-Ad	bronchial
11	chr8:103076800-103079800	Weak transcription	Colon Smooth Muscle	Colon
12	chr8:103076800-103080000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr8:103076800-103082200	Weak transcription	Fetal Muscle Trunk	muscle
14	chr8:103076800-103082800	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr8:103076800-103083200	Weak transcription	Right Ventricle	heart
16	chr8:103077000-103079000	Weak transcription	Psoas Muscle	Psoas
17	chr8:103077000-103079000	Weak transcription	Stomach Smooth Muscle	stomach
18	chr8:103077000-103079600	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr8:103077000-103080400	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr8:103077000-103090400	Weak transcription	Aorta	Aorta
21	chr8:103077200-103079000	Weak transcription	Ovary	ovary
22	chr8:103077400-103080800	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr8:103077600-103079200	Weak transcription	Fetal Heart	heart
24	chr8:103077800-103079800	Weak transcription	Fetal Muscle Leg	muscle
25	chr8:103078000-103079400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr8:103078000-103082600	Weak transcription	Fetal Brain Male	brain
27	chr8:103078200-103079200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr8:103078200-103079400	Weak transcription	K562	blood
29	chr8:103078200-103080600	Enhancers	ES-I3 Cell Line	embryonic stem cell
30	chr8:103078200-103080600	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr8:103078200-103080600	Enhancers	iPS-18 Cell Line	embryonic stem cell
32	chr8:103078200-103080800	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr8:103078200-103081000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr8:103078400-103079600	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr8:103078400-103080200	Enhancers	iPS-15b Cell Line	embryonic stem cell
36	chr8:103078600-103080600	Enhancers	Left Ventricle	heart
37	chr8:103078600-103081200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr8:103078800-103079000	Enhancers	Lung	lung
39	chr8:103078800-103079400	Enhancers	H9 Cell Line	embryonic stem cell
40	chr8:103078800-103080600	Enhancers	GM12878-XiMat	blood

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