Variant report

Variant	rs7543127
Chromosome Location	chr1:165860867-165860868
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr1:165860776-165860999	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:165598675..165601057-chr1:165860826..165863471,2	K562	blood:
2	chr1:165859891..165861620-chr1:165865286..165866899,2	MCF-7	breast:
3	chr1:165796017..165799300-chr1:165857413..165861538,3	MCF-7	breast:

Variant related genes	Relation type
UCK2	TF binding region
ENSG00000143198	Chromatin interaction
ENSG00000143183	Chromatin interaction
ENSG00000143179	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10800165	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10918301	0.80[EUR][1000 genomes]
rs12080800	0.84[CEU][hapmap];0.93[JPT][hapmap];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12125493	0.84[CEU][hapmap];0.93[JPT][hapmap];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3762365	0.92[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3790659	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3806333	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs485338	0.82[JPT][hapmap];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs492467	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs495529	0.90[CHB][hapmap];1.00[JPT][hapmap];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs506813	0.80[CHB][hapmap];0.81[JPT][hapmap];0.82[ASN][1000 genomes]
rs536109	0.80[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs544617	0.90[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7519919	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][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	esv2756102	chr1:165652342-165877342	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:165845600-165861600	Weak transcription	Thymus	Thymus
2	chr1:165853400-165864600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:165854000-165869600	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr1:165854200-165862000	Weak transcription	Right Atrium	heart
5	chr1:165854400-165865400	Weak transcription	Fetal Lung	lung
6	chr1:165854600-165883000	Weak transcription	Colon Smooth Muscle	Colon
7	chr1:165855000-165863800	Weak transcription	HUVEC	blood vessel
8	chr1:165856400-165869600	Weak transcription	Fetal Kidney	kidney
9	chr1:165856600-165878800	Weak transcription	Small Intestine	intestine
10	chr1:165857800-165863600	Weak transcription	Stomach Mucosa	stomach
11	chr1:165857800-165865800	Weak transcription	Colonic Mucosa	Colon
12	chr1:165858200-165881200	Strong transcription	Dnd41	blood
13	chr1:165858400-165862400	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr1:165858400-165870000	Strong transcription	K562	blood
15	chr1:165858400-165881000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr1:165858600-165866800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
17	chr1:165858600-165872000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr1:165858600-165872600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
19	chr1:165858600-165902400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr1:165859000-165866200	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr1:165859000-165881000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr1:165859200-165862400	Strong transcription	Fetal Intestine Small	intestine
23	chr1:165859200-165862600	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr1:165859200-165862800	Strong transcription	H9 Cell Line	embryonic stem cell
25	chr1:165859200-165864600	Strong transcription	NHEK	skin
26	chr1:165859200-165866000	Strong transcription	GM12878-XiMat	blood
27	chr1:165859200-165870400	Strong transcription	Fetal Stomach	stomach
28	chr1:165859200-165871000	Strong transcription	Primary hematopoietic stem cells	blood
29	chr1:165859200-165871200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr1:165859200-165878000	Strong transcription	Hela-S3	cervix
31	chr1:165859200-165880400	Strong transcription	HUES64 Cell Line	embryonic stem cell
32	chr1:165859200-165881000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr1:165859400-165861600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr1:165859400-165862200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr1:165859400-165862200	Strong transcription	Stomach Smooth Muscle	stomach
36	chr1:165859400-165862400	Strong transcription	Aorta	Aorta
37	chr1:165859400-165862800	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr1:165859400-165864200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr1:165859400-165864800	Strong transcription	Fetal Muscle Trunk	muscle
40	chr1:165859400-165866800	Strong transcription	Cortex derived primary cultured neurospheres	brain
41	chr1:165859400-165868000	Strong transcription	HUES6 Cell Line	embryonic stem cell
42	chr1:165859400-165868400	Strong transcription	Duodenum Mucosa	Duodenum
43	chr1:165859400-165868400	Strong transcription	HepG2	liver
44	chr1:165859400-165871200	Strong transcription	Rectal Mucosa Donor 31	rectum
45	chr1:165859400-165880200	Strong transcription	Monocytes-CD14+_RO01746	blood
46	chr1:165859400-165880400	Strong transcription	Primary monocytes fromperipheralblood	blood
47	chr1:165859400-165880600	Strong transcription	HUES48 Cell Line	embryonic stem cell
48	chr1:165859400-165880600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
49	chr1:165859600-165861200	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr1:165859600-165861200	Weak transcription	Esophagus	oesophagus

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