Variant report

Variant	rs568162438
Chromosome Location	chr1:85086423-85086424
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:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:22 , 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	chr1:85086327..85087159-chr1:85237711..85238512,3	K562	blood:
8	chr1:85039864..85042098-chr1:85083830..85086770,2	MCF-7	breast:
9	chr1:85086321..85086904-chr1:85219114..85220306,4	K562	blood:
10	chr1:85085136..85087140-chr1:85087403..85088994,2	K562	blood:
11	chr1:85078939..85082218-chr1:85082659..85086975,4	K562	blood:
12	chr1:84969683..84973064-chr1:85084003..85088136,5	K562	blood:
13	chr1:85083746..85086523-chr1:85204168..85206276,2	K562	blood:
14	chr1:85086229..85086777-chr1:85190143..85190708,2	K562	blood:
15	chr1:85038036..85041091-chr1:85083677..85086665,3	K562	blood:
16	chr1:84907591..84908130-chr1:85086306..85086828,2	MCF-7	breast:
17	chr1:84907633..84908606-chr1:85086107..85087004,6	MCF-7	breast:
18	chr1:85085152..85087256-chr1:85103081..85105385,2	K562	blood:
19	chr1:85086362..85086938-chr6:26157676..26158194,2	NB4	blood:
20	chr1:85039840..85040593-chr1:85086207..85086997,2	MCF-7	breast:
21	chr1:85083903..85087925-chr1:85089048..85091034,3	K562	blood:
22	chr1:84961886..84966476-chr1:85082859..85087991,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000232622	Chromatin interaction
ENSG00000122432	Chromatin interaction
ENSG00000117151	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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85085200-85087000	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr1:85085800-85086800	Active TSS	Brain Inferior Temporal Lobe	brain
3	chr1:85085800-85086800	Active TSS	K562	blood
4	chr1:85085800-85087000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr1:85085800-85087000	Active TSS	Brain Angular Gyrus	brain
6	chr1:85085800-85087000	Active TSS	Brain Anterior Caudate	brain
7	chr1:85085800-85087000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
8	chr1:85085800-85087000	Active TSS	Colon Smooth Muscle	Colon
9	chr1:85085800-85087000	Active TSS	Hela-S3	cervix
10	chr1:85085800-85087200	Weak transcription	Fetal Heart	heart
11	chr1:85086000-85086600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr1:85086000-85086600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr1:85086000-85086800	Active TSS	HUES6 Cell Line	embryonic stem cell
14	chr1:85086000-85086800	Active TSS	iPS-15b Cell Line	embryonic stem cell
15	chr1:85086000-85086800	Active TSS	iPS-18 Cell Line	embryonic stem cell
16	chr1:85086000-85086800	Active TSS	iPS-20b Cell Line	embryonic stem cell
17	chr1:85086000-85086800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr1:85086000-85086800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
19	chr1:85086000-85087000	Active TSS	Brain Cingulate Gyrus	brain
20	chr1:85086200-85086600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr1:85086200-85086600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
22	chr1:85086200-85086600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
23	chr1:85086200-85086600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
24	chr1:85086200-85086600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
25	chr1:85086200-85086600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr1:85086200-85086600	Flanking Active TSS	Adipose Nuclei	Adipose
27	chr1:85086200-85086600	Flanking Active TSS	Liver	Liver
28	chr1:85086200-85086600	Flanking Active TSS	Fetal Muscle Leg	muscle
29	chr1:85086200-85086600	Flanking Active TSS	Placenta Amnion	Placenta Amnion
30	chr1:85086200-85086600	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
31	chr1:85086200-85086600	Active TSS	Stomach Mucosa	stomach
32	chr1:85086200-85086600	Flanking Active TSS	Stomach Smooth Muscle	stomach
33	chr1:85086200-85086600	Flanking Active TSS	Dnd41	blood
34	chr1:85086200-85086600	Flanking Active TSS	HMEC	breast
35	chr1:85086200-85086600	Flanking Active TSS	HUVEC	blood vessel
36	chr1:85086200-85086800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
37	chr1:85086200-85086800	Active TSS	H1 Cell Line	embryonic stem cell
38	chr1:85086200-85086800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr1:85086200-85086800	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr1:85086200-85086800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr1:85086200-85086800	Active TSS	H9 Cell Line	embryonic stem cell
42	chr1:85086200-85086800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr1:85086200-85086800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr1:85086200-85086800	Active TSS	HUES48 Cell Line	embryonic stem cell
45	chr1:85086200-85086800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr1:85086200-85086800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
47	chr1:85086200-85086800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
48	chr1:85086200-85086800	Active TSS	Primary neutrophils fromperipheralblood	blood
49	chr1:85086200-85086800	Flanking Active TSS	Primary B cells from cord blood	blood
50	chr1:85086200-85086800	Flanking Active TSS	Primary B cells from peripheral blood	blood

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