Variant report

Variant	rs17209816
Chromosome Location	chr5:52095430-52095431
allele	C/T
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:52087164..52092719-chr5:52094045..52097200,6	MCF-7	breast:
2	chr5:52086735..52088754-chr5:52094900..52097260,2	K562	blood:
3	chr5:52094843..52098198-chr5:52098254..52104420,8	MCF-7	breast:
4	chr5:52094488..52099149-chr5:52099370..52102274,8	MCF-7	breast:
5	chr5:52085315..52089325-chr5:52092594..52096400,4	K562	blood:
6	chr5:52094808..52097707-chr5:52126610..52128310,2	MCF-7	breast:
7	chr5:52094445..52096603-chr5:52100055..52101668,2	K562	blood:
8	chr5:52095351..52098941-chr5:52102830..52105160,3	MCF-7	breast:
9	chr5:52094974..52097633-chr5:52104904..52107447,3	MCF-7	breast:
10	chr5:52094605..52098066-chr5:52105462..52108939,4	MCF-7	breast:
11	chr5:52094703..52097147-chr5:52102540..52104205,2	K562	blood:
12	chr5:52069827..52072246-chr5:52094290..52096328,2	MCF-7	breast:

No data

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs17263593	1.00[AMR][1000 genomes]
rs17273067	1.00[AMR][1000 genomes]
rs2245991	1.00[CEU][hapmap]
rs2245997	1.00[CEU][hapmap]
rs2548507	1.00[CEU][hapmap]
rs2648734	1.00[CEU][hapmap]
rs2648735	1.00[CEU][hapmap]
rs2648737	1.00[CEU][hapmap]
rs72752548	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2754787	chr5:51688543-52193243	Enhancers Active TSS Genic enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv462187	chr5:51758804-52333420	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv598163	chr5:51758804-52333420	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv471013	chr5:51779197-52339114	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv1027410	chr5:52022713-52103360	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv1020640	chr5:52058830-52120858	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
7	nsv830295	chr5:52084532-52257696	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:52094200-52095800	Flanking Active TSS	Stomach Smooth Muscle	stomach
2	chr5:52094400-52095600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
3	chr5:52094400-52095800	Flanking Active TSS	Hela-S3	cervix
4	chr5:52094600-52095600	Flanking Active TSS	Primary T cells from cord blood	blood
5	chr5:52094600-52095600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
6	chr5:52094600-52095600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr5:52094600-52095600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
8	chr5:52094600-52095800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr5:52094600-52096000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr5:52094600-52096200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr5:52094600-52096200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr5:52094600-52097000	Flanking Active TSS	Primary hematopoietic stem cells	blood
13	chr5:52094600-52097200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr5:52094600-52097400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr5:52094600-52097400	Active TSS	iPS-20b Cell Line	embryonic stem cell
16	chr5:52094600-52097400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr5:52094600-52097800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
18	chr5:52094600-52099000	Active TSS	ES-I3 Cell Line	embryonic stem cell
19	chr5:52094600-52099000	Flanking Active TSS	Adipose Nuclei	Adipose
20	chr5:52094800-52095600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
21	chr5:52094800-52095600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
22	chr5:52094800-52095600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
23	chr5:52094800-52095600	Bivalent/Poised TSS	Fetal Brain Male	brain
24	chr5:52094800-52095600	Flanking Active TSS	Fetal Muscle Leg	muscle
25	chr5:52094800-52095600	Flanking Active TSS	Fetal Thymus	thymus
26	chr5:52094800-52095600	Flanking Active TSS	HUVEC	blood vessel
27	chr5:52094800-52095800	Flanking Active TSS	Liver	Liver
28	chr5:52094800-52096000	Active TSS	Brain Germinal Matrix	brain
29	chr5:52094800-52096200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr5:52094800-52096200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr5:52094800-52096200	Active TSS	Aorta	Aorta
32	chr5:52094800-52096200	Active TSS	Fetal Muscle Trunk	muscle
33	chr5:52094800-52096200	Active TSS	NHDF-Ad	bronchial
34	chr5:52094800-52096800	Active TSS	Rectal Mucosa Donor 29	rectum
35	chr5:52094800-52097200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr5:52094800-52097400	Active TSS	Ovary	ovary
37	chr5:52094800-52097600	Active TSS	iPS-15b Cell Line	embryonic stem cell
38	chr5:52094800-52097800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr5:52094800-52097800	Flanking Active TSS	Primary B cells from cord blood	blood
40	chr5:52094800-52097800	Active TSS	Pancreatic Islets	Pancreatic Islet
41	chr5:52094800-52098600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr5:52095000-52095600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
43	chr5:52095000-52095600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
44	chr5:52095000-52095800	Active TSS	Right Atrium	heart
45	chr5:52095000-52096000	Active TSS	Muscle Satellite Cultured Cells	--
46	chr5:52095000-52096000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
47	chr5:52095000-52096200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr5:52095000-52096200	Active TSS	Colonic Mucosa	Colon
49	chr5:52095000-52096200	Active TSS	Fetal Intestine Small	intestine
50	chr5:52095000-52096200	Active TSS	Fetal Stomach	stomach

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