Variant report

Variant	rs17322654
Chromosome Location	chr8:67426137-67426138
allele	A/G
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	chr8:67423189..67428522-chr8:67623234..67628071,7	MCF-7	breast:
2	chr8:67385971..67387776-chr8:67424804..67426337,2	MCF-7	breast:
3	chr8:67417099..67419629-chr8:67424131..67426273,2	MCF-7	breast:
4	chr8:67424749..67427225-chr8:67428836..67431636,2	K562	blood:
5	chr8:67398115..67399973-chr8:67424030..67426495,2	MCF-7	breast:
6	chr8:67424694..67427156-chr8:67976156..67978565,3	MCF-7	breast:
7	chr8:67422088..67426308-chr8:67518696..67523583,8	MCF-7	breast:
8	chr8:67421561..67429070-chr8:67518939..67527775,32	MCF-7	breast:
9	chr8:67370581..67378448-chr8:67424626..67427789,7	MCF-7	breast:
10	chr8:67345421..67347646-chr8:67424128..67426947,2	MCF-7	breast:
11	chr8:67422601..67431884-chr8:67622296..67628668,31	MCF-7	breast:
12	chr8:67423253..67428167-chr8:67524174..67527584,6	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000104205	Chromatin interaction
ENSG00000169085	Chromatin interaction
ENSG00000185697	Chromatin interaction
ENSG00000104218	Chromatin interaction
ENSG00000121022	Chromatin interaction
ENSG00000147576	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10092151	1.00[ASN][1000 genomes]
rs10095182	1.00[ASN][1000 genomes]
rs10095818	1.00[ASN][1000 genomes]
rs10099908	1.00[ASN][1000 genomes]
rs10100008	1.00[ASN][1000 genomes]
rs10108841	1.00[ASN][1000 genomes]
rs10113313	1.00[ASN][1000 genomes]
rs11782087	1.00[ASN][1000 genomes]
rs11784186	1.00[ASN][1000 genomes]
rs11984980	1.00[ASN][1000 genomes]
rs1426905	1.00[ASN][1000 genomes]
rs1473817	1.00[ASN][1000 genomes]
rs16932829	1.00[ASN][1000 genomes]
rs17320665	1.00[ASN][1000 genomes]
rs1863639	1.00[ASN][1000 genomes]
rs28377354	1.00[ASN][1000 genomes]
rs28497070	1.00[ASN][1000 genomes]
rs28505853	1.00[ASN][1000 genomes]
rs28609784	1.00[ASN][1000 genomes]
rs28664134	1.00[ASN][1000 genomes]
rs4291250	1.00[ASN][1000 genomes]
rs4448262	1.00[ASN][1000 genomes]
rs60798600	1.00[ASN][1000 genomes]
rs73691530	1.00[ASN][1000 genomes]
rs9657084	1.00[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	esv3446467	chr8:66749863-67667068	Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	nsv516599	chr8:67423997-67432106	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67419800-67430000	Weak transcription	Psoas Muscle	Psoas
2	chr8:67420000-67427600	Weak transcription	Liver	Liver
3	chr8:67423200-67427200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
4	chr8:67423200-67427800	Enhancers	Fetal Heart	heart
5	chr8:67423600-67433600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr8:67423800-67426200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr8:67423800-67426600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr8:67423800-67426600	Enhancers	HSMM	muscle
9	chr8:67423800-67428400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr8:67424000-67426600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr8:67424400-67426400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr8:67424400-67426600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr8:67424400-67426600	Enhancers	Primary T cells fromperipheralblood	blood
14	chr8:67424400-67426600	Bivalent Enhancer	Placenta	Placenta
15	chr8:67424400-67426600	Enhancers	NH-A	brain
16	chr8:67424600-67426200	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr8:67424600-67426400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr8:67424600-67427400	Enhancers	Fetal Lung	lung
19	chr8:67425000-67426200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr8:67425000-67426400	Genic enhancers	Brain Angular Gyrus	brain
21	chr8:67425000-67429400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr8:67425000-67430000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr8:67425200-67426200	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr8:67425200-67426200	Weak transcription	Primary B cells from peripheral blood	blood
25	chr8:67425200-67426200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr8:67425200-67426200	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
27	chr8:67425200-67426600	Enhancers	HSMMtube	muscle
28	chr8:67425200-67429000	Weak transcription	Osteobl	bone
29	chr8:67425200-67433800	Weak transcription	Spleen	Spleen
30	chr8:67425400-67426200	Genic enhancers	Brain Anterior Caudate	brain
31	chr8:67425400-67426200	Bivalent Enhancer	HepG2	liver
32	chr8:67425400-67426400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr8:67425400-67426400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr8:67425400-67426400	Genic enhancers	Brain Inferior Temporal Lobe	brain
35	chr8:67425400-67429000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr8:67425400-67429000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr8:67425400-67429000	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr8:67425400-67429000	Weak transcription	HMEC	breast
39	chr8:67425400-67429400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr8:67425400-67429600	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr8:67425400-67429600	Weak transcription	HUVEC	blood vessel
42	chr8:67425400-67429600	Weak transcription	NHLF	lung
43	chr8:67425400-67429800	Weak transcription	Aorta	Aorta
44	chr8:67425400-67429800	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr8:67425400-67430000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr8:67425400-67430000	Weak transcription	Skeletal Muscle Male	skeletal muscle
47	chr8:67425400-67430400	Weak transcription	Stomach Smooth Muscle	stomach
48	chr8:67425400-67430800	Weak transcription	Rectal Smooth Muscle	rectum
49	chr8:67425400-67431000	Weak transcription	Right Atrium	heart
50	chr8:67425400-67431400	Weak transcription	Duodenum Smooth Muscle	Duodenum

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