Variant report

Variant	rs59204628
Chromosome Location	chr17:19631347-19631348
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:19482050..19483613-chr17:19630992..19632977,2	MCF-7	breast:
2	chr17:19625321..19633420-chr17:19643892..19652817,11	MCF-7	breast:
3	chr17:19624830..19631833-chr17:19654160..19660410,12	MCF-7	breast:
4	chr17:19618336..19623572-chr17:19629964..19633338,7	MCF-7	breast:
5	chr17:19627403..19631543-chr17:19639531..19642900,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000264785	Chromatin interaction
ENSG00000228983	Chromatin interaction
ENSG00000230607	Chromatin interaction
ENSG00000262681	Chromatin interaction
ENSG00000180638	Chromatin interaction
ENSG00000108602	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1986269	0.90[AMR][1000 genomes]
rs2072328	0.83[AMR][1000 genomes]
rs3744695	1.00[AMR][1000 genomes]
rs4646786	0.83[AMR][1000 genomes]
rs4646788	1.00[AMR][1000 genomes]
rs4646790	1.00[AMR][1000 genomes]
rs57619378	0.90[AMR][1000 genomes]
rs59910766	0.90[AMR][1000 genomes]
rs61738931	1.00[AMR][1000 genomes]
rs887240	1.00[AMR][1000 genomes]
rs917520	1.00[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs9895491	1.00[AMR][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	nsv482827	chr17:19456848-19645771	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
2	nsv1062853	chr17:19547912-20206601	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	nsv1063892	chr17:19564634-19808485	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	nsv907866	chr17:19582533-19697976	Weak transcription Genic enhancers Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	esv1807724	chr17:19597423-19656009	Weak transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv907867	chr17:19603060-19697976	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	esv1793043	chr17:19604821-19670329	Bivalent/Poised TSS Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
8	nsv526290	chr17:19613357-19651482	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
9	nsv457704	chr17:19620477-19663747	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
10	nsv470582	chr17:19620477-19663747	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
11	nsv574580	chr17:19620477-19663747	Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:19617600-19635400	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr17:19623200-19648400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr17:19624800-19631400	Weak transcription	Brain Germinal Matrix	brain
4	chr17:19628200-19640800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr17:19629200-19633800	Enhancers	Fetal Muscle Leg	muscle
6	chr17:19629400-19632000	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr17:19629400-19632200	Enhancers	Colon Smooth Muscle	Colon
8	chr17:19629800-19632200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr17:19629800-19632200	Enhancers	Muscle Satellite Cultured Cells	--
10	chr17:19629800-19632200	Enhancers	Rectal Mucosa Donor 31	rectum
11	chr17:19629800-19633200	Enhancers	Brain Substantia Nigra	brain
12	chr17:19630000-19632200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr17:19630000-19632200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr17:19630000-19632200	Enhancers	Skeletal Muscle Female	skeletal muscle
15	chr17:19630000-19632200	Enhancers	HMEC	breast
16	chr17:19630000-19632200	Enhancers	NHDF-Ad	bronchial
17	chr17:19630000-19633400	Enhancers	HSMMtube	muscle
18	chr17:19630200-19631600	Enhancers	Right Ventricle	heart
19	chr17:19630200-19631800	Enhancers	Sigmoid Colon	Sigmoid Colon
20	chr17:19630200-19632000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr17:19630200-19632000	Enhancers	Osteobl	bone
22	chr17:19630200-19632200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr17:19630200-19632200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr17:19630200-19632200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr17:19630200-19632200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
26	chr17:19630200-19632200	Enhancers	NHEK	skin
27	chr17:19630200-19632400	Enhancers	Right Atrium	heart
28	chr17:19630200-19632400	Enhancers	A549	lung
29	chr17:19630200-19632800	Enhancers	Cortex derived primary cultured neurospheres	brain
30	chr17:19630200-19632800	Enhancers	Brain Angular Gyrus	brain
31	chr17:19630200-19633600	Enhancers	Ovary	ovary
32	chr17:19630400-19631800	Enhancers	Rectal Mucosa Donor 29	rectum
33	chr17:19630400-19632000	Enhancers	Spleen	Spleen
34	chr17:19630400-19632200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr17:19630400-19632200	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr17:19630400-19632200	Enhancers	Liver	Liver
37	chr17:19630400-19632200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
38	chr17:19630400-19632200	Enhancers	Fetal Lung	lung
39	chr17:19630400-19632200	Enhancers	Pancreas	Pancrea
40	chr17:19630600-19631400	Flanking Active TSS	Adipose Nuclei	Adipose
41	chr17:19630600-19631400	Enhancers	Psoas Muscle	Psoas
42	chr17:19630600-19631800	Enhancers	Duodenum Mucosa	Duodenum
43	chr17:19630600-19632000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr17:19630600-19632000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr17:19630600-19632000	Enhancers	NHLF	lung
46	chr17:19630600-19632200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
47	chr17:19630600-19632200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr17:19630600-19632200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr17:19630600-19632200	Enhancers	Esophagus	oesophagus
50	chr17:19630600-19632200	Enhancers	Fetal Intestine Small	intestine

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