Variant report

Variant	rs12060252
Chromosome Location	chr1:151590310-151590311
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF384	chr1:151590286-151590460	K562	blood:	n/a	n/a
2	ZNF384	chr1:151590241-151590494	GM12878	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:151590294..151592154-chr1:151599382..151601645,2	MCF-7	breast:
2	chr1:151573478..151575634-chr1:151589093..151591397,2	K562	blood:
3	chr1:151484902..151486680-chr1:151588656..151591283,2	MCF-7	breast:
4	chr1:151589498..151592274-chr1:151596405..151599197,2	K562	blood:
5	chr1:151580809..151584127-chr1:151586626..151590699,5	MCF-7	breast:
6	chr1:151585984..151590986-chr1:151591499..151594499,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000250734	TF binding region

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10157548	1.00[AMR][1000 genomes]
rs11204864	1.00[AMR][1000 genomes]
rs11204869	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11204870	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12067057	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12070025	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12073164	1.00[AMR][1000 genomes]
rs12073259	0.84[AFR][1000 genomes]
rs12074567	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12090837	1.00[AMR][1000 genomes]
rs1589433	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16833464	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16833469	1.00[AMR][1000 genomes]
rs1891590	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1937355	1.00[AMR][1000 genomes]
rs6681978	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6692271	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6701219	1.00[AMR][1000 genomes]
rs959290	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv997511	chr1:151491765-151595902	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151586200-151591000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr1:151586200-151591600	Weak transcription	Gastric	stomach
3	chr1:151586200-151591600	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr1:151586200-151593200	Enhancers	HepG2	liver
5	chr1:151586400-151591400	Weak transcription	Placenta	Placenta
6	chr1:151586400-151591800	Weak transcription	Brain Substantia Nigra	brain
7	chr1:151586400-151592000	Weak transcription	Brain Cingulate Gyrus	brain
8	chr1:151586400-151592200	Weak transcription	Fetal Muscle Leg	muscle
9	chr1:151586400-151592200	Weak transcription	Fetal Stomach	stomach
10	chr1:151586400-151592200	Weak transcription	NHDF-Ad	bronchial
11	chr1:151586400-151592400	Weak transcription	Lung	lung
12	chr1:151586400-151593800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr1:151586400-151594200	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr1:151586400-151600600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr1:151586400-151610200	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr1:151586400-151610400	Weak transcription	Left Ventricle	heart
17	chr1:151586400-151611400	Weak transcription	Esophagus	oesophagus
18	chr1:151586400-151622200	Weak transcription	Fetal Thymus	thymus
19	chr1:151586400-151626600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr1:151586600-151591800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr1:151586600-151592000	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr1:151586600-151592200	Weak transcription	Adipose Nuclei	Adipose
23	chr1:151586600-151592200	Weak transcription	Brain Inferior Temporal Lobe	brain
24	chr1:151586600-151603000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr1:151586600-151605600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr1:151586800-151590600	Weak transcription	Fetal Kidney	kidney
27	chr1:151586800-151590800	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr1:151586800-151590800	Weak transcription	Duodenum Mucosa	Duodenum
29	chr1:151586800-151591000	Weak transcription	Stomach Smooth Muscle	stomach
30	chr1:151586800-151591200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr1:151586800-151591200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr1:151586800-151591200	Weak transcription	NHLF	lung
33	chr1:151586800-151591600	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr1:151586800-151591600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
35	chr1:151586800-151591600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr1:151586800-151591800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr1:151586800-151592000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
38	chr1:151586800-151592200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr1:151587000-151591600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr1:151587000-151591600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr1:151587000-151591600	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr1:151587600-151591600	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr1:151587600-151591800	Weak transcription	Brain Hippocampus Middle	brain
44	chr1:151587600-151599400	Weak transcription	Ovary	ovary
45	chr1:151587600-151640600	Weak transcription	Fetal Brain Male	brain
46	chr1:151587800-151592200	Weak transcription	K562	blood
47	chr1:151588000-151591800	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr1:151588000-151592200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
49	chr1:151588000-151626600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr1:151588200-151590800	Weak transcription	iPS-20b Cell Line	embryonic stem cell

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