Variant report

Variant	rs2535602
Chromosome Location	chr17:15849904-15849905
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:15845973..15849997-chr17:15902965..15906205,4	K562	blood:
2	chr17:15842605..15845101-chr17:15849558..15852028,2	K562	blood:
3	chr17:15848046..15849969-chr17:15901406..15903295,2	MCF-7	breast:
4	chr17:15848713..15850591-chr17:15862400..15865313,2	K562	blood:
5	chr17:15848433..15851819-chr17:15861241..15867680,6	MCF-7	breast:
6	chr17:15846803..15850519-chr17:15901644..15904167,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000011295	Chromatin interaction
ENSG00000214941	Chromatin interaction

Extended variants
information (count: 82 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs1102644	1.00[EUR][1000 genomes]
rs11868331	1.00[EUR][1000 genomes]
rs11868613	1.00[EUR][1000 genomes]
rs11869184	1.00[EUR][1000 genomes]
rs11872072	1.00[EUR][1000 genomes]
rs1622059	1.00[EUR][1000 genomes]
rs1622062	1.00[EUR][1000 genomes]
rs1797463	1.00[EUR][1000 genomes]
rs2058366	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2482988	1.00[EUR][1000 genomes]
rs2535600	1.00[EUR][1000 genomes]
rs2535603	1.00[ASN][1000 genomes]
rs2535604	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2535607	0.92[ASN][1000 genomes]
rs2535608	0.92[ASN][1000 genomes]
rs2535610	0.92[ASN][1000 genomes]
rs2779190	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2779191	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2779192	1.00[ASN][1000 genomes]
rs2779193	1.00[ASN][1000 genomes]
rs2779194	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2779195	1.00[ASN][1000 genomes]
rs2779196	1.00[ASN][1000 genomes]
rs2779197	1.00[ASN][1000 genomes]
rs2779199	0.92[ASN][1000 genomes]
rs2779203	1.00[EUR][1000 genomes]
rs3859259	1.00[EUR][1000 genomes]
rs4791645	1.00[EUR][1000 genomes]
rs4791646	1.00[EUR][1000 genomes]
rs4791651	1.00[EUR][1000 genomes]
rs4791654	1.00[EUR][1000 genomes]
rs4792695	1.00[EUR][1000 genomes]
rs4792696	1.00[EUR][1000 genomes]
rs4792697	1.00[EUR][1000 genomes]
rs4792698	1.00[EUR][1000 genomes]
rs484520	1.00[EUR][1000 genomes]
rs500752	1.00[EUR][1000 genomes]
rs513190	1.00[EUR][1000 genomes]
rs708592	1.00[EUR][1000 genomes]
rs7209188	1.00[EUR][1000 genomes]
rs7213464	1.00[ASN][1000 genomes]
rs757623	1.00[ASN][1000 genomes]
rs758854	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs758855	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs758856	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs758858	0.92[ASN][1000 genomes]
rs8079191	1.00[EUR][1000 genomes]
rs859225	1.00[EUR][1000 genomes]
rs859231	1.00[EUR][1000 genomes]
rs859239	1.00[EUR][1000 genomes]
rs859241	1.00[EUR][1000 genomes]
rs859242	1.00[EUR][1000 genomes]
rs859244	1.00[EUR][1000 genomes]
rs859245	1.00[EUR][1000 genomes]
rs859249	1.00[EUR][1000 genomes]
rs859250	1.00[EUR][1000 genomes]
rs859251	1.00[EUR][1000 genomes]
rs859254	1.00[EUR][1000 genomes]
rs859258	1.00[EUR][1000 genomes]
rs859259	1.00[EUR][1000 genomes]
rs859260	1.00[EUR][1000 genomes]
rs859261	1.00[EUR][1000 genomes]
rs859262	1.00[EUR][1000 genomes]
rs859263	1.00[EUR][1000 genomes]
rs859264	1.00[EUR][1000 genomes]
rs859265	1.00[EUR][1000 genomes]
rs859266	1.00[EUR][1000 genomes]
rs859267	1.00[EUR][1000 genomes]
rs859268	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916652	chr17:15093600-15856310	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	nsv1059056	chr17:15294011-15856861	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv934185	chr17:15552960-16551197	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	190 gene(s)	inside rSNPs	diseases
4	nsv1062951	chr17:15561070-15890644	Weak transcription Strong transcription Active TSS ZNF genes & repeats Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
5	nsv1066023	chr17:15607267-16053512	Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
6	esv3330182	chr17:15652014-16569534	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
7	esv3446844	chr17:15654843-16572246	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
8	nsv1061222	chr17:15672934-15999778	ZNF genes & repeats Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
9	nsv907706	chr17:15731923-16056442	ZNF genes & repeats Weak transcription Enhancers Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
10	nsv1067555	chr17:15804228-16001117	Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
11	nsv1063459	chr17:15804228-16543593	Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
12	nsv1061987	chr17:15810017-15855135	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
13	nsv907707	chr17:15846535-15950751	Strong transcription Weak transcription Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:15846400-15850000	Weak transcription	Hela-S3	cervix
2	chr17:15847600-15850000	Enhancers	Fetal Heart	heart
3	chr17:15847600-15850000	Active TSS	NHLF	lung
4	chr17:15847600-15850200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
5	chr17:15847600-15850800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
6	chr17:15847800-15850000	Active TSS	Left Ventricle	heart
7	chr17:15847800-15850200	Bivalent/Poised TSS	Brain Angular Gyrus	brain
8	chr17:15847800-15850200	Active TSS	Brain Cingulate Gyrus	brain
9	chr17:15848000-15850000	Active TSS	NHEK	skin
10	chr17:15848000-15851000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr17:15848200-15850000	Active TSS	Colonic Mucosa	Colon
12	chr17:15848200-15850000	Active TSS	HMEC	breast
13	chr17:15848600-15850400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr17:15848600-15850400	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
15	chr17:15848600-15850600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr17:15848600-15850600	Flanking Active TSS	HUVEC	blood vessel
17	chr17:15848600-15851000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr17:15848800-15850000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr17:15848800-15850000	Bivalent Enhancer	Fetal Brain Male	brain
20	chr17:15848800-15850200	Bivalent/Poised TSS	Brain Anterior Caudate	brain
21	chr17:15848800-15850600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
22	chr17:15849000-15850000	Active TSS	Esophagus	oesophagus
23	chr17:15849000-15850200	Enhancers	Liver	Liver
24	chr17:15849000-15850200	Weak transcription	HSMMtube	muscle
25	chr17:15849000-15852000	Enhancers	Spleen	Spleen
26	chr17:15849200-15850000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr17:15849200-15850600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr17:15849200-15850800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr17:15849200-15850800	Flanking Active TSS	Osteobl	bone
30	chr17:15849400-15850400	Flanking Active TSS	Placenta Amnion	Placenta Amnion
31	chr17:15849400-15850600	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
32	chr17:15849400-15850600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr17:15849400-15850800	Flanking Active TSS	NH-A	brain
34	chr17:15849400-15850800	Flanking Active TSS	NHDF-Ad	bronchial
35	chr17:15849400-15851000	Enhancers	Lung	lung
36	chr17:15849400-15851200	Enhancers	Gastric	stomach
37	chr17:15849400-15851400	Bivalent Enhancer	Fetal Stomach	stomach
38	chr17:15849400-15852200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
39	chr17:15849600-15850000	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
40	chr17:15849600-15850000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr17:15849600-15850000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr17:15849600-15850000	Bivalent Enhancer	Brain Germinal Matrix	brain
43	chr17:15849600-15850000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
44	chr17:15849600-15850000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
45	chr17:15849600-15850000	Enhancers	Fetal Lung	lung
46	chr17:15849600-15850000	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
47	chr17:15849600-15850000	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
48	chr17:15849600-15850200	Active TSS	Brain Hippocampus Middle	brain
49	chr17:15849600-15850200	Enhancers	Right Ventricle	heart
50	chr17:15849600-15850200	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle

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