Variant report

Variant	rs34717982
Chromosome Location	chr15:58521169-58521170
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:58513464..58515183-chr15:58519032..58521453,2	K562	blood:
2	chr15:58519681..58521503-chr15:59041156..59042988,2	MCF-7	breast:
3	chr15:58518907..58522119-chr15:58624457..58627687,4	K562	blood:
4	chr15:58518773..58521484-chr15:59062953..59065044,2	MCF-7	breast:
5	chr15:58519770..58521503-chr15:58715577..58717727,2	K562	blood:
6	chr15:58520576..58522119-chr15:58624457..58626342,2	K562	blood:

Variant related genes	Relation type
ENSG00000128923	Chromatin interaction
ENSG00000137845	Chromatin interaction
ENSG00000245975	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs1001619	0.86[CEU][hapmap]
rs10851634	1.00[CEU][hapmap]
rs11071369	1.00[CEU][hapmap]
rs11071370	1.00[CEU][hapmap]
rs11632498	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11637181	0.85[ASN][1000 genomes]
rs11637278	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11854297	1.00[CEU][hapmap]
rs12908890	0.82[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs16939955	0.93[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs16939960	0.93[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs16939962	0.88[CEU][hapmap];0.83[JPT][hapmap];1.00[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1711057	1.00[CEU][hapmap]
rs1711063	0.83[JPT][hapmap]
rs1867380	1.00[CEU][hapmap]
rs1992587	1.00[CEU][hapmap]
rs2063901	0.87[CEU][hapmap]
rs2077735	0.87[CEU][hapmap]
rs2249783	1.00[CEU][hapmap]
rs2414554	0.82[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs28510553	0.81[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs28578652	0.88[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs28663995	0.88[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs3858889	1.00[CEU][hapmap]
rs3858890	1.00[CEU][hapmap]
rs4402495	0.85[ASN][1000 genomes]
rs4775018	1.00[CEU][hapmap]
rs57649249	0.88[ASN][1000 genomes]
rs66597610	0.90[AMR][1000 genomes]
rs67026867	0.93[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs67047612	1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs67215667	0.93[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs67690745	1.00[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs7164935	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7172755	0.93[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs7181221	0.93[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7496568	1.00[CEU][hapmap]
rs755079	0.83[JPT][hapmap];0.86[ASN][1000 genomes]
rs8025888	0.93[AMR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047246	chr15:58375607-58707158	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv833024	chr15:58447459-58621963	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv1050473	chr15:58479888-58562270	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv904264	chr15:58505122-58588510	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv904265	chr15:58517528-58588510	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv1051058	chr15:58519922-59092530	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
7	nsv542401	chr15:58519922-59092530	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
8	nsv529717	chr15:58519923-58756814	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
9	nsv1042201	chr15:58520746-58780710	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:58519200-58522600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr15:58519800-58521200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr15:58520000-58521200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr15:58520200-58521200	Enhancers	HUES48 Cell Line	embryonic stem cell
5	chr15:58520200-58521200	Enhancers	HUES64 Cell Line	embryonic stem cell
6	chr15:58520200-58521400	Enhancers	Liver	Liver
7	chr15:58520200-58521400	Enhancers	Hela-S3	cervix
8	chr15:58520200-58522200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr15:58520200-58522200	Enhancers	NHDF-Ad	bronchial
10	chr15:58520200-58522400	Enhancers	Primary T cells from cord blood	blood
11	chr15:58520200-58522600	Enhancers	HSMMtube	muscle
12	chr15:58520200-58523400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr15:58520200-58523400	Enhancers	NHEK	skin
14	chr15:58520400-58521200	Enhancers	H1 Cell Line	embryonic stem cell
15	chr15:58520400-58521200	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr15:58520400-58521200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr15:58520400-58521200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr15:58520400-58521400	Enhancers	H9 Cell Line	embryonic stem cell
19	chr15:58520400-58521400	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr15:58520400-58521600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr15:58520400-58521600	Enhancers	Brain Cingulate Gyrus	brain
22	chr15:58520400-58521600	Enhancers	Thymus	Thymus
23	chr15:58520400-58521800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
24	chr15:58520400-58522000	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr15:58520400-58522000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr15:58520400-58522000	Enhancers	Right Ventricle	heart
27	chr15:58520400-58522200	Enhancers	Brain Hippocampus Middle	brain
28	chr15:58520400-58522200	Enhancers	Fetal Thymus	thymus
29	chr15:58520400-58522400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr15:58520400-58522400	Enhancers	Fetal Muscle Leg	muscle
31	chr15:58520400-58522400	Enhancers	HSMM	muscle
32	chr15:58520400-58522600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr15:58520400-58522600	Enhancers	NHLF	lung
34	chr15:58520400-58522800	Enhancers	Psoas Muscle	Psoas
35	chr15:58520400-58523200	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr15:58520400-58523200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr15:58520400-58523200	Enhancers	Left Ventricle	heart
38	chr15:58520400-58523200	Enhancers	Right Atrium	heart
39	chr15:58520400-58523600	Enhancers	HMEC	breast
40	chr15:58520600-58521200	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
41	chr15:58520600-58521200	Enhancers	Brain Substantia Nigra	brain
42	chr15:58520600-58521200	Enhancers	Colon Smooth Muscle	Colon
43	chr15:58520600-58521200	Enhancers	Spleen	Spleen
44	chr15:58520600-58521400	Enhancers	Brain Anterior Caudate	brain
45	chr15:58520600-58522000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
46	chr15:58520600-58522000	Enhancers	Primary T helper cells fromperipheralblood	blood
47	chr15:58520600-58522000	Enhancers	Placenta	Placenta
48	chr15:58520600-58522000	Enhancers	Osteobl	bone
49	chr15:58520600-58522200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
50	chr15:58520600-58522200	Enhancers	Muscle Satellite Cultured Cells	--

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