Variant report

Variant	rs4078519
Chromosome Location	chr1:154528086-154528087
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:154528052-154528124	HUVEC	blood vessel:	n/a	n/a
2	POLR2A	chr1:154528002-154528335	HepG2	liver:	n/a	n/a
3	POLR2A	chr1:154527758-154528278	GM12878	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:154460459..154462764-chr1:154527677..154529936,2	K562	blood:
2	chr1:154500418..154502884-chr1:154526293..154528985,2	K562	blood:
3	chr1:154458190..154460389-chr1:154527899..154530840,2	K562	blood:
4	chr1:154515410..154518296-chr1:154526483..154528570,2	K562	blood:

No data

Variant related genes	Relation type
UBE2Q1	TF binding region
ENSG00000169291	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs10908849	1.00[MEX][hapmap]
rs11265605	1.00[EUR][1000 genomes]
rs11265630	1.00[EUR][1000 genomes]
rs1194591	1.00[EUR][1000 genomes]
rs1817688	1.00[EUR][1000 genomes]
rs2340487	1.00[EUR][1000 genomes]
rs4076089	1.00[MEX][hapmap]
rs4240873	1.00[EUR][1000 genomes]
rs4393148	1.00[EUR][1000 genomes]
rs4520411	1.00[EUR][1000 genomes]
rs4845369	1.00[EUR][1000 genomes]
rs4845632	1.00[EUR][1000 genomes]
rs4845646	1.00[EUR][1000 genomes]
rs4845651	1.00[MEX][hapmap]
rs6427694	1.00[EUR][1000 genomes]
rs6678164	1.00[EUR][1000 genomes]
rs6683078	1.00[EUR][1000 genomes]
rs6684225	1.00[EUR][1000 genomes]
rs6685108	1.00[EUR][1000 genomes]
rs7515974	1.00[EUR][1000 genomes]
rs7530737	1.00[EUR][1000 genomes]
rs7537595	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7556118	1.00[EUR][1000 genomes]
rs9427089	1.00[MEX][hapmap]
rs9659545	1.00[EUR][1000 genomes]
rs9804125	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948413	chr1:153974621-154797272	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
2	nsv521887	chr1:154236570-154684106	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:154513600-154528400	Weak transcription	Right Atrium	heart
2	chr1:154520000-154528200	Strong transcription	Placenta	Placenta
3	chr1:154520600-154528400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr1:154520600-154528800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
5	chr1:154520600-154528800	Strong transcription	Primary T cells from cord blood	blood
6	chr1:154520800-154528400	Strong transcription	Adipose Nuclei	Adipose
7	chr1:154520800-154528400	Strong transcription	Placenta Amnion	Placenta Amnion
8	chr1:154520800-154528600	Strong transcription	HUES6 Cell Line	embryonic stem cell
9	chr1:154520800-154528800	Strong transcription	Primary neutrophils fromperipheralblood	blood
10	chr1:154521000-154528200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:154521000-154528200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr1:154521000-154528600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr1:154521000-154528600	Strong transcription	Fetal Thymus	thymus
14	chr1:154521200-154528200	Strong transcription	H9 Cell Line	embryonic stem cell
15	chr1:154521200-154528200	Strong transcription	Fetal Muscle Trunk	muscle
16	chr1:154521200-154528400	Strong transcription	HUES48 Cell Line	embryonic stem cell
17	chr1:154521200-154528400	Strong transcription	Primary B cells from cord blood	blood
18	chr1:154521200-154528400	Strong transcription	Brain Anterior Caudate	brain
19	chr1:154521200-154528400	Strong transcription	Brain Hippocampus Middle	brain
20	chr1:154521200-154528400	Strong transcription	HUVEC	blood vessel
21	chr1:154521200-154528400	Strong transcription	NH-A	brain
22	chr1:154521200-154528600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr1:154521200-154528600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr1:154521200-154528600	Strong transcription	HSMM	muscle
25	chr1:154521200-154528800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr1:154521200-154528800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr1:154521200-154528800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr1:154521400-154528200	Strong transcription	Primary T helper cells PMA-I stimulated	--
29	chr1:154521400-154528200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr1:154521400-154528200	Strong transcription	Lung	lung
31	chr1:154521400-154528200	Strong transcription	Spleen	Spleen
32	chr1:154521400-154528200	Strong transcription	NHDF-Ad	bronchial
33	chr1:154521400-154528400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr1:154521400-154528400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
35	chr1:154521400-154528400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr1:154521400-154528400	Strong transcription	Muscle Satellite Cultured Cells	--
37	chr1:154521400-154528600	Strong transcription	H1 Cell Line	embryonic stem cell
38	chr1:154521400-154528600	Strong transcription	HUES64 Cell Line	embryonic stem cell
39	chr1:154521400-154528600	Strong transcription	Primary B cells from peripheral blood	blood
40	chr1:154521400-154528800	Strong transcription	Thymus	Thymus
41	chr1:154521400-154529000	Strong transcription	Rectal Mucosa Donor 29	rectum
42	chr1:154521600-154528200	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr1:154521600-154528400	Strong transcription	ES-I3 Cell Line	embryonic stem cell
44	chr1:154521600-154528400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
45	chr1:154521600-154528400	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr1:154521600-154528400	Strong transcription	Primary hematopoietic stem cells	blood
47	chr1:154521600-154528400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr1:154521600-154528400	Strong transcription	Aorta	Aorta
49	chr1:154521600-154528400	Strong transcription	Fetal Lung	lung
50	chr1:154521600-154528400	Strong transcription	Hela-S3	cervix

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