Variant report

Variant	rs75033832
Chromosome Location	chr1:85085400-85085401
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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:85084850..85087265-chr1:85092225..85094800,2	K562	blood:
2	chr1:85084850..85087042-chr1:85091218..85093725,2	K562	blood:
3	chr1:85083999..85086788-chr1:85190313..85192578,2	K562	blood:
4	chr1:85085152..85088621-chr1:85102581..85105385,3	K562	blood:
5	chr1:85038472..85040331-chr1:85083677..85087781,3	K562	blood:
6	chr1:84999607..85002399-chr1:85083617..85085507,3	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	chr1:85085152..85087256-chr1:85103081..85105385,2	K562	blood:
15	chr1:85083903..85087925-chr1:85089048..85091034,3	K562	blood:
16	chr1:84961886..84966476-chr1:85082859..85087991,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000117151	Chromatin interaction
ENSG00000232622	Chromatin interaction
ENSG00000122432	Chromatin interaction
ENSG00000174021	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:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85077200-85085400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr1:85080200-85086000	Weak transcription	Pancreas	Pancrea
3	chr1:85080200-85086200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr1:85080400-85085600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:85080800-85086200	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr1:85082400-85086000	Enhancers	Rectal Smooth Muscle	rectum
7	chr1:85082800-85086200	Enhancers	Stomach Smooth Muscle	stomach
8	chr1:85084200-85085600	Enhancers	Colon Smooth Muscle	Colon
9	chr1:85084400-85085600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr1:85084400-85086200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr1:85084600-85086200	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr1:85084800-85085400	Enhancers	Ovary	ovary
13	chr1:85084800-85086200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr1:85084800-85086200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr1:85085000-85085400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr1:85085000-85085400	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr1:85085000-85085400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr1:85085000-85085400	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr1:85085000-85085400	Weak transcription	Left Ventricle	heart
20	chr1:85085000-85085400	Enhancers	NHEK	skin
21	chr1:85085000-85085600	Enhancers	Fetal Kidney	kidney
22	chr1:85085000-85085800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr1:85085000-85085800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr1:85085000-85085800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr1:85085000-85085800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
26	chr1:85085000-85085800	Flanking Active TSS	Brain Anterior Caudate	brain
27	chr1:85085000-85085800	Enhancers	Fetal Heart	heart
28	chr1:85085000-85085800	Flanking Active TSS	HUVEC	blood vessel
29	chr1:85085000-85086000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr1:85085000-85086000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr1:85085000-85086000	Enhancers	HSMMtube	muscle
32	chr1:85085000-85086200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr1:85085000-85086200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr1:85085000-85086200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
35	chr1:85085000-85086200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr1:85085000-85086200	Enhancers	Adipose Nuclei	Adipose
37	chr1:85085000-85086200	Enhancers	Duodenum Smooth Muscle	Duodenum
38	chr1:85085000-85086200	Enhancers	Fetal Intestine Large	intestine
39	chr1:85085000-85086200	Enhancers	Monocytes-CD14+_RO01746	blood
40	chr1:85085200-85085400	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr1:85085200-85085400	Enhancers	HUES6 Cell Line	embryonic stem cell
42	chr1:85085200-85085400	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr1:85085200-85085400	Enhancers	Brain Angular Gyrus	brain
44	chr1:85085200-85085400	Flanking Active TSS	Brain Hippocampus Middle	brain
45	chr1:85085200-85085400	Enhancers	Rectal Mucosa Donor 29	rectum
46	chr1:85085200-85085400	Enhancers	Rectal Mucosa Donor 31	rectum
47	chr1:85085200-85085600	Enhancers	Primary hematopoietic stem cells short term culture	blood
48	chr1:85085200-85085600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
49	chr1:85085200-85085800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr1:85085200-85085800	Bivalent Enhancer	HepG2	liver

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