Variant report

Variant	rs7216030
Chromosome Location	chr17:20931003-20931004
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:20929697..20932170-chr17:20941265..20943012,2	MCF-7	breast:
2	chr17:20913560..20915154-chr17:20930705..20933098,2	K562	blood:
3	chr17:20930469..20933824-chr17:20936944..20940043,3	MCF-7	breast:
4	chr17:20930509..20934223-chr17:20943543..20949021,6	MCF-7	breast:
5	chr17:20929476..20933087-chr17:20942220..20947214,8	MCF-7	breast:
6	chr17:20923268..20925950-chr17:20930911..20932913,3	MCF-7	breast:
7	chr17:20913654..20920338-chr17:20930133..20937587,8	K562	blood:

Variant related genes	Relation type
ENSG00000124422	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs7211862	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7212424	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7222265	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7226285	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:20900600-20932400	Strong transcription	Fetal Intestine Small	intestine
2	chr17:20900800-20932200	Strong transcription	Brain Germinal Matrix	brain
3	chr17:20901400-20932600	Strong transcription	Thymus	Thymus
4	chr17:20901400-20937000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
5	chr17:20901800-20932000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
6	chr17:20901800-20932000	Strong transcription	Primary neutrophils fromperipheralblood	blood
7	chr17:20901800-20932400	Strong transcription	HUES48 Cell Line	embryonic stem cell
8	chr17:20901800-20936800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr17:20902000-20932600	Strong transcription	Fetal Intestine Large	intestine
10	chr17:20902000-20935400	Strong transcription	Dnd41	blood
11	chr17:20902200-20932400	Strong transcription	Fetal Thymus	thymus
12	chr17:20902200-20932600	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr17:20902400-20931600	Strong transcription	HMEC	breast
14	chr17:20902400-20932200	Strong transcription	H1 Cell Line	embryonic stem cell
15	chr17:20902400-20932200	Strong transcription	Monocytes-CD14+_RO01746	blood
16	chr17:20902400-20932600	Strong transcription	H9 Cell Line	embryonic stem cell
17	chr17:20902600-20932000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr17:20902600-20932200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
19	chr17:20902600-20932400	Strong transcription	HUES6 Cell Line	embryonic stem cell
20	chr17:20902600-20932800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
21	chr17:20903200-20932000	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr17:20903400-20932000	Strong transcription	Liver	Liver
23	chr17:20903400-20940000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr17:20903600-20938400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr17:20904000-20931600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr17:20905000-20933000	Strong transcription	Hela-S3	cervix
27	chr17:20905400-20931800	Strong transcription	Rectal Mucosa Donor 29	rectum
28	chr17:20905800-20931600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr17:20906000-20931800	Strong transcription	HSMM	muscle
30	chr17:20906800-20932800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr17:20909200-20931800	Strong transcription	HUVEC	blood vessel
32	chr17:20909200-20932200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr17:20909400-20932400	Strong transcription	Cortex derived primary cultured neurospheres	brain
34	chr17:20909400-20932600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr17:20909600-20933200	Strong transcription	HepG2	liver
36	chr17:20923000-20933000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr17:20923000-20943800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
38	chr17:20924400-20931400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr17:20924400-20932600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr17:20925000-20931800	Strong transcription	Spleen	Spleen
41	chr17:20925000-20932000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr17:20925200-20933400	Weak transcription	Stomach Mucosa	stomach
43	chr17:20925400-20931800	Strong transcription	Fetal Muscle Trunk	muscle
44	chr17:20926000-20931600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr17:20926000-20931600	Strong transcription	Fetal Brain Female	brain
46	chr17:20926000-20931800	Strong transcription	NH-A	brain
47	chr17:20926000-20932200	Strong transcription	Primary B cells from cord blood	blood
48	chr17:20926000-20932200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr17:20926000-20932200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr17:20926200-20932000	Strong transcription	Primary hematopoietic stem cells	blood

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