Variant report

Variant	rs60506384
Chromosome Location	chr1:154180770-154180771
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:16)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:154180718-154180912	GM12878	blood:	n/a	n/a
2	POLR2A	chr1:154180506-154181103	K562	blood:	n/a	n/a
3	POLR2A	chr1:154180616-154181143	GM12892	blood:	n/a	n/a
4	POLR2A	chr1:154180559-154181112	PFSK-1	brain:	n/a	n/a
5	POLR2A	chr1:154179639-154182756	SK-N-MC	brain:	n/a	n/a
6	POLR2A	chr1:154180682-154180985	Hela-S3	cervix:	n/a	n/a
7	POLR2A	chr1:154180613-154181008	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr1:154180670-154181012	GM12891	blood:	n/a	n/a
9	POLR2A	chr1:154180525-154181070	HL-60	blood:	n/a	n/a
10	POLR2A	chr1:154177962-154183356	HepG2	liver:	n/a	n/a
11	POLR2A	chr1:154180643-154180995	GM12891	blood:	n/a	n/a
12	POLR2A	chr1:154180661-154181079	MCF-7	breast:	n/a	n/a
13	POLR2A	chr1:154180631-154181230	K562	blood:	n/a	n/a
14	POLR2A	chr1:154180667-154181008	ECC-1	luminal epithelium:	n/a	n/a
15	POLR2A	chr1:154180486-154181075	GM12878	blood:	n/a	n/a
16	POLR2A	chr1:154180689-154181348	Hela-S3	cervix:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:154177747..154182716-chr1:154190412..154196946,9	K562	blood:
2	chr1:154164207..154166951-chr1:154178142..154180976,3	K562	blood:
3	chr1:154179575..154184047-chr1:154184381..154189147,7	K562	blood:
4	chr1:154164207..154166650-chr1:154177801..154180976,3	K562	blood:
5	chr1:154179244..154180954-chr1:154181456..154183378,2	K562	blood:

No data

Variant related genes	Relation type
C1orf189	TF binding region
ENSG00000215938	Chromatin interaction
ENSG00000143549	Chromatin interaction
ENSG00000143612	Chromatin interaction
ENSG00000143569	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1113142	1.00[EUR][1000 genomes]
rs11265605	1.00[EUR][1000 genomes]
rs1194591	1.00[EUR][1000 genomes]
rs1194594	1.00[EUR][1000 genomes]
rs1194597	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1194601	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1194605	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1205590	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16835909	1.00[EUR][1000 genomes]
rs1685625	1.00[EUR][1000 genomes]
rs1685626	1.00[EUR][1000 genomes]
rs1760791	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs1817688	1.00[EUR][1000 genomes]
rs2340487	1.00[EUR][1000 genomes]
rs2500222	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2633434	1.00[EUR][1000 genomes]
rs4406621	1.00[EUR][1000 genomes]
rs4845369	1.00[EUR][1000 genomes]
rs55649582	1.00[EUR][1000 genomes]
rs55650526	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55664806	1.00[EUR][1000 genomes]
rs55857358	0.85[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs56752149	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56760430	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57011078	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs59310765	1.00[EUR][1000 genomes]
rs59651124	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60743909	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6666943	1.00[EUR][1000 genomes]
rs715737	1.00[EUR][1000 genomes]
rs7527520	1.00[EUR][1000 genomes]
rs7556118	1.00[EUR][1000 genomes]
rs9804125	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999364	chr1:153622634-154419436	Strong transcription Genic enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	286 gene(s)	inside rSNPs	diseases
2	nsv535175	chr1:153622634-154419436	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	286 gene(s)	inside rSNPs	diseases
3	nsv532551	chr1:153732039-154192279	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	233 gene(s)	inside rSNPs	diseases
4	esv1830240	chr1:153885261-154370938	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	239 gene(s)	inside rSNPs	diseases
5	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
6	nsv1000402	chr1:153991106-154527053	Strong transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	106 gene(s)	inside rSNPs	diseases
7	nsv946405	chr1:154179146-154180987	Genic enhancers Strong transcription Weak transcription	TF binding region CpG island Chromatin interactive region miRNA target site	5 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	chr1:154159000-154184400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:154172000-154184600	Weak transcription	Fetal Brain Male	brain
3	chr1:154172200-154184200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr1:154172200-154190000	Weak transcription	Fetal Heart	heart
5	chr1:154172400-154184600	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr1:154177000-154191000	Strong transcription	Fetal Stomach	stomach
7	chr1:154177000-154192000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr1:154177200-154187200	Strong transcription	Brain Hippocampus Middle	brain
9	chr1:154177200-154187400	Strong transcription	Primary neutrophils fromperipheralblood	blood
10	chr1:154177200-154187600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr1:154177200-154190200	Strong transcription	Primary T cells from cord blood	blood
12	chr1:154177400-154190400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr1:154177600-154181000	Strong transcription	Brain Cingulate Gyrus	brain
14	chr1:154177600-154184600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr1:154177600-154184800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr1:154177600-154187000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr1:154177600-154187000	Strong transcription	Adipose Nuclei	Adipose
18	chr1:154177600-154187000	Strong transcription	Fetal Brain Female	brain
19	chr1:154177600-154187200	Strong transcription	Sigmoid Colon	Sigmoid Colon
20	chr1:154177600-154187400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr1:154177600-154187400	Strong transcription	Fetal Thymus	thymus
22	chr1:154177600-154191400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr1:154177800-154185600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr1:154177800-154185800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr1:154177800-154186000	Strong transcription	A549	lung
26	chr1:154177800-154186200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr1:154177800-154186800	Strong transcription	Liver	Liver
28	chr1:154177800-154187200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
29	chr1:154177800-154187200	Strong transcription	Primary monocytes fromperipheralblood	blood
30	chr1:154177800-154187200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr1:154177800-154187200	Strong transcription	Brain Substantia Nigra	brain
32	chr1:154177800-154187200	Strong transcription	Rectal Mucosa Donor 29	rectum
33	chr1:154177800-154187200	Strong transcription	Stomach Smooth Muscle	stomach
34	chr1:154177800-154187400	Strong transcription	HUES48 Cell Line	embryonic stem cell
35	chr1:154177800-154187400	Strong transcription	Primary T helper cells fromperipheralblood	blood
36	chr1:154177800-154187400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr1:154177800-154187400	Strong transcription	Duodenum Smooth Muscle	Duodenum
38	chr1:154177800-154187400	Strong transcription	Fetal Intestine Large	intestine
39	chr1:154177800-154187600	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chr1:154177800-154188000	Strong transcription	Fetal Muscle Trunk	muscle
41	chr1:154177800-154190400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr1:154177800-154190600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr1:154177800-154190600	Strong transcription	Fetal Intestine Small	intestine
44	chr1:154177800-154191000	Strong transcription	Fetal Muscle Leg	muscle
45	chr1:154177800-154191400	Strong transcription	Placenta	Placenta
46	chr1:154178000-154181400	Strong transcription	GM12878-XiMat	blood
47	chr1:154178000-154185800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr1:154178000-154185800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr1:154178000-154185800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr1:154178000-154186400	Strong transcription	Cortex derived primary cultured neurospheres	brain

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