Variant report

Variant	rs17499768
Chromosome Location	chr8:103073768-103073769
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:103073305..103075976-chr8:103083458..103085206,2	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:35)

rs_ID	r²[population]
rs1465164	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1465165	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1465166	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16868899	1.00[ASN][1000 genomes]
rs16869130	1.00[CEU][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16869132	0.89[CEU][hapmap];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];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17415702	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17415729	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17415778	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17416694	1.00[CEU][hapmap];0.93[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]
rs17500046	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17500151	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];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17500367	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17506740	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17506775	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17507464	1.00[CEU][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17507512	1.00[CEU][hapmap];0.93[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	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:11 , 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	nsv891231	chr8:103001914-103076379	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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:42 , 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	chr8:103066000-103075800	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr8:103066000-103076200	Weak transcription	HSMMtube	muscle
4	chr8:103069400-103075000	Weak transcription	Psoas Muscle	Psoas
5	chr8:103069400-103075800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr8:103070400-103076000	Weak transcription	Fetal Heart	heart
7	chr8:103072400-103077800	Enhancers	Fetal Muscle Leg	muscle
8	chr8:103072600-103073800	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr8:103072600-103073800	Enhancers	Adipose Nuclei	Adipose
10	chr8:103072600-103073800	Enhancers	Fetal Brain Female	brain
11	chr8:103072600-103073800	Enhancers	Fetal Stomach	stomach
12	chr8:103072600-103078000	Enhancers	Fetal Brain Male	brain
13	chr8:103072800-103073800	Enhancers	Colon Smooth Muscle	Colon
14	chr8:103072800-103076000	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr8:103073000-103074400	Weak transcription	Fetal Muscle Trunk	muscle
16	chr8:103073000-103074800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr8:103073000-103075800	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr8:103073000-103076000	Weak transcription	Lung	lung
19	chr8:103073000-103077200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr8:103073200-103076000	Weak transcription	Rectal Smooth Muscle	rectum
21	chr8:103073400-103074000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr8:103073400-103074600	Weak transcription	Fetal Kidney	kidney
23	chr8:103073400-103076400	Weak transcription	Right Atrium	heart
24	chr8:103073400-103076400	Weak transcription	Right Ventricle	heart
25	chr8:103073400-103077400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr8:103073400-103077600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr8:103073400-103078200	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr8:103073400-103078400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
29	chr8:103073400-103079800	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr8:103073400-103079800	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr8:103073600-103073800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr8:103073600-103073800	Flanking Active TSS	Ovary	ovary
33	chr8:103073600-103074400	Enhancers	Stomach Smooth Muscle	stomach
34	chr8:103073600-103074800	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr8:103073600-103075400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr8:103073600-103075800	Weak transcription	Placenta	Placenta
37	chr8:103073600-103075800	Weak transcription	Left Ventricle	heart
38	chr8:103073600-103076200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
39	chr8:103073600-103076200	Weak transcription	Aorta	Aorta
40	chr8:103073600-103076400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr8:103073600-103078200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr8:103073600-103078600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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