Variant report

Variant	rs1045196
Chromosome Location	chr17:60021594-60021595
allele	A/C/G/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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:60013931..60017692-chr17:60021197..60024517,4	MCF-7	breast:
2	chr17:60003740..60007255-chr17:60016525..60022639,9	MCF-7	breast:
3	chr17:60016210..60017855-chr17:60020584..60023431,3	K562	blood:
4	chr17:60001930..60007756-chr17:60014153..60029774,25	MCF-7	breast:
5	chr17:60002364..60006048-chr17:60020807..60024637,3	K562	blood:
6	chr17:60008776..60011729-chr17:60019884..60022804,2	MCF-7	breast:
7	chr17:60020965..60024852-chr17:60134621..60138471,4	MCF-7	breast:
8	chr17:60021178..60022769-chr17:60051978..60053926,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000108506	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10221202	0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10512491	1.00[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs12601229	1.00[AFR][1000 genomes]
rs12601523	1.00[AFR][1000 genomes]
rs12603627	0.82[AFR][1000 genomes]
rs12937188	1.00[AFR][1000 genomes];0.86[ASN][1000 genomes]
rs16945724	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16945762	1.00[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs16945785	1.00[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs2378946	0.82[AFR][1000 genomes]
rs28500646	0.93[ASN][1000 genomes]
rs4280312	0.81[ASN][1000 genomes]
rs72843746	0.82[AFR][1000 genomes]
rs72843758	1.00[AFR][1000 genomes]
rs72843759	1.00[AFR][1000 genomes]
rs72843762	1.00[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs72843767	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72843769	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs72843770	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72843771	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72843772	1.00[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs72843775	0.94[ASN][1000 genomes]
rs72843778	1.00[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs72843782	1.00[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs72843785	1.00[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs72843788	0.87[ASN][1000 genomes]
rs72843791	0.82[AFR][1000 genomes];0.87[ASN][1000 genomes]
rs72843793	0.86[ASN][1000 genomes]
rs72843797	0.86[ASN][1000 genomes]
rs753765	0.82[AFR][1000 genomes]
rs9910451	0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3378293	chr17:59744117-60124899	ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
2	nsv916786	chr17:59890834-60103687	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	116 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:60005800-60022000	Weak transcription	H1 Cell Line	embryonic stem cell
2	chr17:60005800-60022000	Weak transcription	Thymus	Thymus
3	chr17:60005800-60022800	Weak transcription	Brain Angular Gyrus	brain
4	chr17:60006000-60022000	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr17:60006000-60022000	Weak transcription	Fetal Brain Female	brain
6	chr17:60006000-60022000	Weak transcription	HSMMtube	muscle
7	chr17:60006000-60022800	Weak transcription	Brain Anterior Caudate	brain
8	chr17:60006000-60023000	Weak transcription	Brain Hippocampus Middle	brain
9	chr17:60006000-60023600	Weak transcription	Stomach Smooth Muscle	stomach
10	chr17:60012800-60023800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr17:60013800-60021600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr17:60014200-60030000	Weak transcription	Stomach Mucosa	stomach
13	chr17:60014400-60022000	Weak transcription	Rectal Smooth Muscle	rectum
14	chr17:60014400-60022200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr17:60014600-60024400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr17:60014800-60023800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr17:60014800-60028000	Weak transcription	Colonic Mucosa	Colon
18	chr17:60015000-60022800	Weak transcription	Brain Cingulate Gyrus	brain
19	chr17:60015400-60022200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr17:60015400-60023400	Weak transcription	NHLF	lung
21	chr17:60015400-60023800	Weak transcription	Fetal Intestine Small	intestine
22	chr17:60015600-60021800	Weak transcription	HepG2	liver
23	chr17:60015600-60022400	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr17:60015800-60021800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr17:60016000-60023600	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr17:60016000-60029800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr17:60016200-60023800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr17:60016200-60024200	Weak transcription	Lung	lung
29	chr17:60016400-60027800	Weak transcription	Right Ventricle	heart
30	chr17:60016600-60022000	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr17:60016600-60022000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr17:60016600-60023200	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr17:60017000-60022200	Weak transcription	Fetal Intestine Large	intestine
34	chr17:60017000-60027800	Weak transcription	Gastric	stomach
35	chr17:60017200-60023000	Weak transcription	Fetal Kidney	kidney
36	chr17:60017400-60022000	Weak transcription	NHEK	skin
37	chr17:60017400-60026600	Weak transcription	Spleen	Spleen
38	chr17:60017600-60023000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr17:60017600-60023600	Strong transcription	A549	lung
40	chr17:60017600-60033800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr17:60017800-60033600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr17:60017800-60050400	Strong transcription	Adipose Nuclei	Adipose
43	chr17:60018000-60046800	Strong transcription	Primary neutrophils fromperipheralblood	blood
44	chr17:60018000-60072800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
45	chr17:60018000-60073400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr17:60018200-60021800	Weak transcription	Rectal Mucosa Donor 29	rectum
47	chr17:60018200-60034400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr17:60018400-60034000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr17:60018400-60034000	Strong transcription	Placenta	Placenta
50	chr17:60018600-60047000	Strong transcription	Primary monocytes fromperipheralblood	blood

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