Variant report

Variant	rs561334027
Chromosome Location	chr1:85086166-85086167
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:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:85084850..85087265-chr1:85092225..85094800,2	K562	blood:
2	chr1:85039597..85040122-chr1:85085833..85086565,2	NB4	blood:
3	chr1:85084850..85087042-chr1:85091218..85093725,2	K562	blood:
4	chr1:85083999..85086788-chr1:85190313..85192578,2	K562	blood:
5	chr1:85085152..85088621-chr1:85102581..85105385,3	K562	blood:
6	chr1:85038472..85040331-chr1:85083677..85087781,3	K562	blood:
7	chr1:84970609..84972253-chr1:85083424..85086384,2	K562	blood:
8	chr1:85039864..85042098-chr1:85083830..85086770,2	MCF-7	breast:
9	chr1:85085136..85087140-chr1:85087403..85088994,2	K562	blood:
10	chr1:85078939..85082218-chr1:85082659..85086975,4	K562	blood:
11	chr1:84969683..84973064-chr1:85084003..85088136,5	K562	blood:
12	chr1:85083746..85086523-chr1:85204168..85206276,2	K562	blood:
13	chr1:85038036..85041091-chr1:85083677..85086665,3	K562	blood:
14	chr1:84907633..84908606-chr1:85086107..85087004,6	MCF-7	breast:
15	chr1:85085152..85087256-chr1:85103081..85105385,2	K562	blood:
16	chr1:85083903..85087925-chr1:85089048..85091034,3	K562	blood:
17	chr1:84961886..84966476-chr1:85082859..85087991,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000232622	Chromatin interaction
ENSG00000122432	Chromatin interaction
ENSG00000174021	Chromatin interaction
ENSG00000117151	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

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	nsv1000325	chr1:85032605-85100748	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
2	esv3319334	chr1:85085389-85087937	Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	esv3319335	chr1:85085389-85087937	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85080200-85086200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr1:85080800-85086200	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr1:85082800-85086200	Enhancers	Stomach Smooth Muscle	stomach
4	chr1:85084400-85086200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr1:85084600-85086200	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr1:85084800-85086200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr1:85084800-85086200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr1:85085000-85086200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr1:85085000-85086200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr1:85085000-85086200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
11	chr1:85085000-85086200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr1:85085000-85086200	Enhancers	Adipose Nuclei	Adipose
13	chr1:85085000-85086200	Enhancers	Duodenum Smooth Muscle	Duodenum
14	chr1:85085000-85086200	Enhancers	Fetal Intestine Large	intestine
15	chr1:85085000-85086200	Enhancers	Monocytes-CD14+_RO01746	blood
16	chr1:85085200-85086200	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr1:85085200-85086200	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr1:85085200-85086200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
19	chr1:85085200-85086400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr1:85085200-85087000	Active TSS	Pancreatic Islets	Pancreatic Islet
21	chr1:85085400-85086200	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr1:85085400-85086200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr1:85085400-85086200	Enhancers	Duodenum Mucosa	Duodenum
24	chr1:85085400-85086200	Enhancers	Left Ventricle	heart
25	chr1:85085400-85086200	Weak transcription	Ovary	ovary
26	chr1:85085600-85086200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr1:85085600-85086200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr1:85085600-85086200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr1:85085600-85086200	Weak transcription	Fetal Kidney	kidney
30	chr1:85085800-85086200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr1:85085800-85086200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr1:85085800-85086200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr1:85085800-85086200	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr1:85085800-85086200	Enhancers	Muscle Satellite Cultured Cells	--
35	chr1:85085800-85086200	Enhancers	Brain Hippocampus Middle	brain
36	chr1:85085800-85086200	Enhancers	HMEC	breast
37	chr1:85085800-85086200	Enhancers	HUVEC	blood vessel
38	chr1:85085800-85086200	Enhancers	NH-A	brain
39	chr1:85085800-85086200	Enhancers	NHEK	skin
40	chr1:85085800-85086200	Enhancers	Osteobl	bone
41	chr1:85085800-85086800	Active TSS	Brain Inferior Temporal Lobe	brain
42	chr1:85085800-85086800	Active TSS	K562	blood
43	chr1:85085800-85087000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr1:85085800-85087000	Active TSS	Brain Angular Gyrus	brain
45	chr1:85085800-85087000	Active TSS	Brain Anterior Caudate	brain
46	chr1:85085800-85087000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
47	chr1:85085800-85087000	Active TSS	Colon Smooth Muscle	Colon
48	chr1:85085800-85087000	Active TSS	Hela-S3	cervix
49	chr1:85085800-85087200	Weak transcription	Fetal Heart	heart
50	chr1:85086000-85086200	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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