Variant report

Variant	rs61185573
Chromosome Location	chr17:46570800-46570801
allele	A/C
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:46568685..46570931-chr17:46575612..46578799,3	MCF-7	breast:
2	chr17:46569342..46572136-chr17:46582152..46585021,2	MCF-7	breast:
3	chr17:46569189..46572269-chr17:46574424..46577287,4	MCF-7	breast:
4	chr17:46568782..46571366-chr17:46604713..46607657,2	MCF-7	breast:
5	chr17:46568691..46570864-chr17:46669281..46671058,2	K562	blood:
6	chr17:46570087..46572342-chr20:55574944..55576592,2	MCF-7	breast:
7	chr17:46570235..46572365-chr20:55509370..55511788,2	MCF-7	breast:
8	chr17:46569545..46570868-chr17:46662367..46663838,14	MCF-7	breast:
9	chr17:46569196..46571892-chr17:46596978..46599661,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000233101	Chromatin interaction
ENSG00000251772	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12948214	1.00[AMR][1000 genomes]
rs57199687	1.00[AMR][1000 genomes]
rs58067327	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58218522	1.00[AFR][1000 genomes]
rs59555055	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59934148	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60681913	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61476017	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73985849	1.00[AFR][1000 genomes]
rs73985851	1.00[AFR][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	nsv833469	chr17:46491849-46709406	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	349 gene(s)	inside rSNPs	diseases
2	esv3420538	chr17:46504944-46861553	Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	369 gene(s)	inside rSNPs	diseases
3	esv1002528	chr17:46566180-46575960	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46569400-46570800	Bivalent Enhancer	Stomach Mucosa	stomach
2	chr17:46569400-46570800	Enhancers	Spleen	Spleen
3	chr17:46569600-46571000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr17:46569800-46570800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
5	chr17:46569800-46570800	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
6	chr17:46569800-46570800	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
7	chr17:46569800-46570800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr17:46569800-46570800	Enhancers	Placenta Amnion	Placenta Amnion
9	chr17:46569800-46570800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
10	chr17:46569800-46571200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr17:46569800-46571600	Enhancers	Lung	lung
12	chr17:46570200-46570800	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
13	chr17:46570400-46570800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
14	chr17:46570400-46570800	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
15	chr17:46570400-46570800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
16	chr17:46570400-46570800	Bivalent Enhancer	Liver	Liver
17	chr17:46570400-46570800	Bivalent Enhancer	Fetal Intestine Large	intestine
18	chr17:46570400-46570800	Bivalent Enhancer	Fetal Intestine Small	intestine
19	chr17:46570400-46570800	Enhancers	Psoas Muscle	Psoas
20	chr17:46570400-46571000	Bivalent Enhancer	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr17:46570400-46571000	Enhancers	Colon Smooth Muscle	Colon
22	chr17:46570400-46571000	Enhancers	NHDF-Ad	bronchial
23	chr17:46570400-46571600	Bivalent Enhancer	Fetal Lung	lung
24	chr17:46570400-46571600	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr17:46570400-46571800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr17:46570400-46572400	Enhancers	Muscle Satellite Cultured Cells	--
27	chr17:46570400-46572600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr17:46570400-46576400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr17:46570600-46570800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
30	chr17:46570600-46570800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
31	chr17:46570600-46570800	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr17:46570600-46570800	Bivalent Enhancer	Primary B cells from peripheral blood	blood
33	chr17:46570600-46570800	Enhancers	Primary hematopoietic stem cells short term culture	blood
34	chr17:46570600-46570800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
35	chr17:46570600-46570800	Enhancers	Primary T helper naive cells from peripheral blood	blood
36	chr17:46570600-46570800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
37	chr17:46570600-46570800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
38	chr17:46570600-46570800	Enhancers	Primary T helper cells PMA-I stimulated	--
39	chr17:46570600-46570800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
40	chr17:46570600-46570800	Enhancers	Primary T helper cells fromperipheralblood	blood
41	chr17:46570600-46570800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
42	chr17:46570600-46570800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr17:46570600-46570800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
44	chr17:46570600-46570800	Bivalent Enhancer	Primary T killer memory cells from peripheral blood	blood
45	chr17:46570600-46570800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr17:46570600-46570800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr17:46570600-46570800	Enhancers	Adipose Nuclei	Adipose
48	chr17:46570600-46570800	Bivalent Enhancer	Brain Germinal Matrix	brain
49	chr17:46570600-46570800	Enhancers	Colonic Mucosa	Colon
50	chr17:46570600-46570800	Bivalent Enhancer	Duodenum Mucosa	Duodenum

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