Variant report

Variant	rs28615179
Chromosome Location	chr17:20944172-20944173
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:20943721..20945424-chr17:21006912..21008982,2	K562	blood:
2	chr17:20943445..20945736-chr17:21186305..21189168,3	K562	blood:
3	chr17:20923120..20926842-chr17:20942462..20946048,5	K562	blood:
4	chr17:20922289..20926435-chr17:20942892..20947042,7	MCF-7	breast:
5	chr17:20923333..20926205-chr17:20942462..20944595,2	K562	blood:
6	chr17:20942946..20947008-chr17:21027887..21030893,3	K562	blood:

Variant related genes	Relation type
ENSG00000109016	Chromatin interaction
ENSG00000124422	Chromatin interaction
ENSG00000034152	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs9890136	1.00[AFR][1000 genomes]
rs9901830	1.00[AFR][1000 genomes]
rs9906056	1.00[AFR][1000 genomes]
rs9916198	1.00[AFR][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	nsv949097	chr17:20801739-21406355	Genic enhancers Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats 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	71 gene(s)	inside rSNPs	diseases
2	nsv529759	chr17:20839079-21529632	Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
3	nsv827917	chr17:20896100-20961777	Flanking Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv827918	chr17:20941127-20951156	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
5	nsv827921	chr17:20943553-20951115	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	16 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	chr17:20942400-20944800	Enhancers	Spleen	Spleen
2	chr17:20942600-20945000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
3	chr17:20942800-20944200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr17:20942800-20944600	Flanking Active TSS	HepG2	liver
5	chr17:20942800-20944800	Enhancers	Stomach Mucosa	stomach
6	chr17:20942800-20945600	Transcr. at gene 5' and 3'	Dnd41	blood
7	chr17:20943000-20944200	Flanking Active TSS	Hela-S3	cervix
8	chr17:20943000-20944800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr17:20943000-20947200	Active TSS	iPS-20b Cell Line	embryonic stem cell
10	chr17:20943200-20944200	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr17:20943200-20944200	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr17:20943200-20944200	Flanking Active TSS	Brain Germinal Matrix	brain
13	chr17:20943200-20944200	Enhancers	Esophagus	oesophagus
14	chr17:20943200-20944200	Flanking Active TSS	HUVEC	blood vessel
15	chr17:20943200-20944400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr17:20943200-20944400	Flanking Active TSS	Duodenum Mucosa	Duodenum
17	chr17:20943200-20944800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr17:20943200-20945200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr17:20943200-20947200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr17:20943200-20947200	Active TSS	HUES64 Cell Line	embryonic stem cell
21	chr17:20943200-20947200	Active TSS	iPS-15b Cell Line	embryonic stem cell
22	chr17:20943400-20944400	Active TSS	K562	blood
23	chr17:20943400-20944600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr17:20943400-20945800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr17:20943400-20947200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr17:20943400-20947200	Active TSS	Aorta	Aorta
27	chr17:20943400-20947200	Active TSS	Brain Angular Gyrus	brain
28	chr17:20943400-20947200	Active TSS	Ovary	ovary
29	chr17:20943400-20947200	Active TSS	GM12878-XiMat	blood
30	chr17:20943400-20947200	Active TSS	NHDF-Ad	bronchial
31	chr17:20943400-20947400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr17:20943400-20947400	Active TSS	HUES48 Cell Line	embryonic stem cell
33	chr17:20943600-20944200	Flanking Active TSS	Colon Smooth Muscle	Colon
34	chr17:20943600-20944200	Flanking Active TSS	Fetal Brain Male	brain
35	chr17:20943600-20944200	Flanking Active TSS	Fetal Heart	heart
36	chr17:20943600-20944200	Flanking Active TSS	Fetal Lung	lung
37	chr17:20943600-20944200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
38	chr17:20943600-20944200	Flanking Active TSS	Osteobl	bone
39	chr17:20943600-20944400	Flanking Active TSS	Primary T cells from cord blood	blood
40	chr17:20943600-20944400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
41	chr17:20943600-20944400	Flanking Active TSS	Fetal Thymus	thymus
42	chr17:20943600-20944400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
43	chr17:20943600-20944400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
44	chr17:20943600-20944600	Flanking Active TSS	Primary hematopoietic stem cells	blood
45	chr17:20943600-20944600	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
46	chr17:20943600-20944600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
47	chr17:20943600-20944600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
48	chr17:20943600-20944600	Flanking Active TSS	Brain Hippocampus Middle	brain
49	chr17:20943600-20944600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
50	chr17:20943600-20945000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell

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