Variant report

Variant	rs12941152
Chromosome Location	chr17:59984052-59984053
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:59983032..59985468-chr20:45769134..45772751,3	MCF-7	breast:
2	chr17:59979529..59987949-chr20:54150484..54157842,44	MCF-7	breast:
3	chr17:59976105..59981042-chr17:59982250..59988291,12	MCF-7	breast:
4	chr17:59982925..59985876-chr8:102505164..102507561,2	MCF-7	breast:
5	chr17:59983836..59986963-chr20:54151503..54153431,17	MCF-7	breast:
6	chr17:59983552..59986407-chr20:55841130..55843829,2	MCF-7	breast:
7	chr17:59978216..59981337-chr17:59982376..59985109,3	K562	blood:
8	chr17:59981901..59984407-chr17:60078933..60081120,2	MCF-7	breast:
9	chr17:59978593..59987926-chr20:54150517..54157312,46	MCF-7	breast:
10	chr17:59983830..59986255-chr20:55845852..55848223,2	MCF-7	breast:
11	chr17:59981296..59984550-chr17:60003860..60005764,4	MCF-7	breast:
12	chr17:59982019..59984383-chr20:55838951..55840809,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000108506	Chromatin interaction
ENSG00000226308	Chromatin interaction
ENSG00000101144	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11079460	1.00[YRI][hapmap]
rs11652725	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11658522	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12941827	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs12952721	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs55991589	0.94[ASN][1000 genomes]
rs72843743	0.87[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:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:59941400-60004400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr17:59941400-60004400	Weak transcription	Aorta	Aorta
3	chr17:59941400-60004400	Weak transcription	Pancreas	Pancrea
4	chr17:59941600-59987600	Weak transcription	Right Ventricle	heart
5	chr17:59941600-60003600	Weak transcription	Stomach Mucosa	stomach
6	chr17:59941600-60004400	Weak transcription	Colonic Mucosa	Colon
7	chr17:59942600-60002800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr17:59943600-59989600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr17:59946600-59989200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr17:59948200-59986800	Weak transcription	Fetal Kidney	kidney
11	chr17:59951400-59992200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr17:59951600-59989600	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr17:59953800-59985600	Weak transcription	Small Intestine	intestine
14	chr17:59954400-60003800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr17:59954600-59984800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr17:59958000-59987600	Weak transcription	Esophagus	oesophagus
17	chr17:59959000-59996800	Weak transcription	Gastric	stomach
18	chr17:59959600-60003600	Weak transcription	Fetal Heart	heart
19	chr17:59963400-59989600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr17:59963800-59989600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr17:59966000-59984600	Weak transcription	Rectal Smooth Muscle	rectum
22	chr17:59966000-60004200	Weak transcription	Psoas Muscle	Psoas
23	chr17:59966200-59987600	Weak transcription	Ovary	ovary
24	chr17:59966200-59998000	Weak transcription	H9 Cell Line	embryonic stem cell
25	chr17:59967600-59987000	Weak transcription	Fetal Brain Male	brain
26	chr17:59967600-59988400	Weak transcription	K562	blood
27	chr17:59974200-59989600	Strong transcription	HUES6 Cell Line	embryonic stem cell
28	chr17:59974200-59993000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr17:59974400-59989600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
30	chr17:59974800-59985000	Strong transcription	Fetal Muscle Leg	muscle
31	chr17:59974800-59989400	Strong transcription	Fetal Muscle Trunk	muscle
32	chr17:59975000-59985000	Strong transcription	Primary neutrophils fromperipheralblood	blood
33	chr17:59975000-59989400	Strong transcription	Fetal Thymus	thymus
34	chr17:59975400-59991800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr17:59975400-60004600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr17:59975600-59984200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr17:59975600-59989600	Strong transcription	HUES48 Cell Line	embryonic stem cell
38	chr17:59975600-59991000	Strong transcription	Fetal Stomach	stomach
39	chr17:59976000-59985200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr17:59976200-59986200	Strong transcription	Stomach Smooth Muscle	stomach
41	chr17:59976200-59992400	Strong transcription	HepG2	liver
42	chr17:59976800-59984200	Strong transcription	Fetal Intestine Large	intestine
43	chr17:59977000-59985200	Strong transcription	Sigmoid Colon	Sigmoid Colon
44	chr17:59977200-59989600	Strong transcription	Skeletal Muscle Female	skeletal muscle
45	chr17:59977400-59989600	Strong transcription	HUES64 Cell Line	embryonic stem cell
46	chr17:59977400-59989600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr17:59978400-59984400	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr17:59978400-59989600	Strong transcription	Dnd41	blood
49	chr17:59978600-60004400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr17:59979000-59989600	Strong transcription	Primary T cells from cord blood	blood

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