Variant report

Variant	rs58970292
Chromosome Location	chr17:17969673-17969674
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:17965517..17967965-chr17:17969575..17972463,2	MCF-7	breast:
2	chr17:17968674..17971093-chr17:17991115..17992806,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-DRG2-1	chr17:17969403-17969757	NONHSAT146139

Variant related genes	Relation type
ENSG00000108591	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs56153053	1.00[EUR][1000 genomes]
rs56160247	1.00[EUR][1000 genomes]
rs57134764	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57662319	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58116638	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58280055	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58376085	1.00[EUR][1000 genomes]
rs58936409	1.00[EUR][1000 genomes]
rs59999521	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61050785	1.00[EUR][1000 genomes]
rs7218594	1.00[EUR][1000 genomes]
rs73303840	1.00[EUR][1000 genomes]
rs73303844	1.00[EUR][1000 genomes]
rs73979211	1.00[EUR][1000 genomes]
rs73979243	1.00[EUR][1000 genomes]
rs8066528	1.00[EUR][1000 genomes]
rs8067146	0.93[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8068860	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8078368	1.00[EUR][1000 genomes]
rs8078811	1.00[EUR][1000 genomes]
rs9914362	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	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
4	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
5	nsv960429	chr17:17951047-18027679	Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Enhancers Genic enhancers ZNF genes & repeats 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	14 gene(s)	inside rSNPs	diseases
6	nsv482491	chr17:17959577-18153920	Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:17944000-17974200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr17:17944000-17974200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr17:17944200-17974400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr17:17944400-17978800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr17:17947000-17974400	Weak transcription	Fetal Heart	heart
6	chr17:17950000-17974400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr17:17950800-17974000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr17:17953400-17970000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr17:17954200-17974200	Weak transcription	Fetal Brain Male	brain
10	chr17:17954800-17974200	Weak transcription	Stomach Mucosa	stomach
11	chr17:17955600-17969800	Strong transcription	Primary T helper cells fromperipheralblood	blood
12	chr17:17955600-17970600	Strong transcription	Fetal Muscle Trunk	muscle
13	chr17:17955600-17971200	Strong transcription	Liver	Liver
14	chr17:17956600-17970800	Strong transcription	Fetal Intestine Small	intestine
15	chr17:17956800-17969800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr17:17956800-17969800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr17:17957000-17970200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr17:17957200-17970600	Strong transcription	Stomach Smooth Muscle	stomach
19	chr17:17957200-17970800	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr17:17961400-17970400	Strong transcription	Duodenum Smooth Muscle	Duodenum
21	chr17:17961400-17970800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr17:17961400-17971200	Strong transcription	Fetal Intestine Large	intestine
23	chr17:17961400-17971200	Strong transcription	Fetal Stomach	stomach
24	chr17:17961600-17970600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr17:17961800-17969800	Strong transcription	Ovary	ovary
26	chr17:17961800-17970000	Strong transcription	HUES6 Cell Line	embryonic stem cell
27	chr17:17961800-17970800	Strong transcription	Placenta	Placenta
28	chr17:17962000-17969800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr17:17962200-17974200	Weak transcription	Fetal Kidney	kidney
30	chr17:17962600-17974200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr17:17963000-17970800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr17:17963000-17974200	Weak transcription	HUVEC	blood vessel
33	chr17:17963400-17971000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr17:17963800-17971000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr17:17963800-17971400	Strong transcription	Brain Anterior Caudate	brain
36	chr17:17964000-17970000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr17:17964200-17970200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr17:17964200-17971000	Strong transcription	Rectal Mucosa Donor 29	rectum
39	chr17:17964200-17971200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr17:17964400-17969800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr17:17964400-17970000	Strong transcription	Primary T cells fromperipheralblood	blood
42	chr17:17964400-17970600	Strong transcription	Rectal Mucosa Donor 31	rectum
43	chr17:17964400-17970800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr17:17964400-17970800	Strong transcription	Adipose Nuclei	Adipose
45	chr17:17964400-17971200	Strong transcription	Primary T cells from cord blood	blood
46	chr17:17964400-17971200	Strong transcription	Cortex derived primary cultured neurospheres	brain
47	chr17:17964600-17970600	Strong transcription	Duodenum Mucosa	Duodenum
48	chr17:17964600-17970800	Strong transcription	Brain Hippocampus Middle	brain
49	chr17:17964600-17971200	Strong transcription	Dnd41	blood
50	chr17:17964600-17971400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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