Variant report

Variant	rs4997327
Chromosome Location	chr17:17824186-17824187
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:17822649..17827287-chr17:17828107..17833962,6	MCF-7	breast:
2	chr17:17822751..17824989-chr17:17833618..17835263,2	K562	blood:
3	chr17:17822590..17824819-chr17:17873819..17875966,2	MCF-7	breast:
4	chr17:17254622..17256313-chr17:17821466..17824370,2	K562	blood:
5	chr17:17578891..17581684-chr17:17824075..17825729,2	K562	blood:
6	chr17:17815608..17820314-chr17:17821294..17824866,4	MCF-7	breast:
7	chr17:17722826..17725491-chr17:17823665..17826462,2	K562	blood:
8	chr17:17817418..17819017-chr17:17822583..17824653,2	K562	blood:
9	chr17:17822871..17825553-chr17:17834729..17836696,2	MCF-7	breast:
10	chr17:17823331..17826317-chr17:17843856..17846226,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000072310	Chromatin interaction
ENSG00000175662	Chromatin interaction
ENSG00000223979	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1006770	1.00[AMR][1000 genomes]
rs11868625	1.00[AMR][1000 genomes]
rs11870522	1.00[AMR][1000 genomes]
rs2229590	1.00[AMR][1000 genomes]
rs2230317	1.00[AMR][1000 genomes]
rs45570037	1.00[AMR][1000 genomes]
rs7214844	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8072048	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531183	chr17:17571035-18205309	Genic enhancers Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
2	nsv916653	chr17:17651916-18454952	Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
3	nsv907766	chr17:17682484-17957348	Enhancers Strong transcription Flanking Active TSS Genic enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
4	nsv533142	chr17:17691726-18236686	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
5	nsv482879	chr17:17802463-17989273	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17810800-17838400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
2	chr17:17811400-17838400	Weak transcription	Primary T cells from cord blood	blood
3	chr17:17814800-17833200	Weak transcription	Aorta	Aorta
4	chr17:17817600-17831600	Weak transcription	Fetal Brain Female	brain
5	chr17:17817800-17824400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr17:17817800-17824400	Weak transcription	Ovary	ovary
7	chr17:17817800-17838200	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr17:17818000-17824400	Weak transcription	Fetal Kidney	kidney
9	chr17:17818000-17824400	Weak transcription	Rectal Smooth Muscle	rectum
10	chr17:17818000-17824600	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr17:17818000-17824600	Weak transcription	Small Intestine	intestine
12	chr17:17818200-17824200	Weak transcription	Adipose Nuclei	Adipose
13	chr17:17818600-17824200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr17:17820800-17824200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr17:17820800-17826400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr17:17821000-17828400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr17:17821200-17829000	Enhancers	NHEK	skin
18	chr17:17821600-17824800	Weak transcription	Pancreas	Pancrea
19	chr17:17821600-17827200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr17:17821800-17824400	Weak transcription	Lung	lung
21	chr17:17821800-17824600	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr17:17821800-17826400	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr17:17821800-17827200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr17:17821800-17827200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr17:17821800-17828400	Enhancers	HMEC	breast
26	chr17:17822000-17824200	Enhancers	Muscle Satellite Cultured Cells	--
27	chr17:17822000-17824400	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr17:17822000-17824800	Enhancers	HSMMtube	muscle
29	chr17:17822000-17826600	Enhancers	NHDF-Ad	bronchial
30	chr17:17822000-17827000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr17:17822000-17827200	Enhancers	Brain Hippocampus Middle	brain
32	chr17:17822000-17836600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr17:17822200-17824200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr17:17822200-17824200	Enhancers	Hela-S3	cervix
35	chr17:17822200-17824200	Enhancers	HepG2	liver
36	chr17:17822200-17824400	Enhancers	HSMM	muscle
37	chr17:17822200-17824400	Enhancers	NHLF	lung
38	chr17:17822200-17826400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr17:17822200-17826600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr17:17822200-17826600	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr17:17822200-17827000	Enhancers	Brain Substantia Nigra	brain
42	chr17:17822400-17824400	Enhancers	Osteobl	bone
43	chr17:17822400-17824800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr17:17822400-17828400	Enhancers	NH-A	brain
45	chr17:17822600-17824600	Weak transcription	Right Atrium	heart
46	chr17:17822600-17826800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr17:17823000-17824200	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr17:17823000-17824200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr17:17823000-17824200	Weak transcription	Colon Smooth Muscle	Colon
50	chr17:17823000-17824200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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