Variant report

Variant	rs60056164
Chromosome Location	chr1:153641278-153641279
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:153641072-153641522	GM12878	blood:	n/a	n/a
2	HEY1	chr1:153641081-153641496	K562	blood:	n/a	n/a
3	POLR2A	chr1:153641222-153641458	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr1:153641126-153641498	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr1:153641263-153641354	HepG2	liver:	n/a	n/a
6	POLR2A	chr1:153641135-153641490	GM12878	blood:	n/a	n/a
7	POLR2A	chr1:153641140-153641371	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:153640832..153646304-chr1:153937039..153940655,5	MCF-7	breast:
2	chr1:153585070..153587943-chr1:153641105..153643486,2	MCF-7	breast:
3	chr1:153640859..153647825-chr1:153650423..153657512,10	K562	blood:
4	chr1:153604920..153606894-chr1:153640638..153643940,3	K562	blood:
5	chr1:153641137..153644859-chr1:153962268..153964805,3	MCF-7	breast:
6	chr1:153638812..153642214-chr1:153649454..153652124,3	MCF-7	breast:
7	chr1:153581285..153583404-chr1:153640253..153643290,3	MCF-7	breast:
8	chr1:153638977..153641528-chr1:153700194..153703365,4	K562	blood:

No data

Variant related genes	Relation type
ILF2	TF binding region
ENSG00000271853	Chromatin interaction
ENSG00000143570	Chromatin interaction
ENSG00000177954	Chromatin interaction
ENSG00000169418	Chromatin interaction
ENSG00000273026	Chromatin interaction
ENSG00000272030	Chromatin interaction
ENSG00000160679	Chromatin interaction
ENSG00000188643	Chromatin interaction
ENSG00000143578	Chromatin interaction
ENSG00000143624	Chromatin interaction
ENSG00000189171	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs57813234	1.00[AFR][1000 genomes]
rs59093661	1.00[AFR][1000 genomes]
rs59663511	1.00[AFR][1000 genomes]
rs73009970	1.00[AFR][1000 genomes]
rs73009975	1.00[AFR][1000 genomes]
rs73009998	1.00[AFR][1000 genomes]
rs73011731	1.00[AFR][1000 genomes]
rs73011733	1.00[AFR][1000 genomes]
rs73013734	1.00[AFR][1000 genomes]
rs73013759	1.00[AFR][1000 genomes]
rs9725547	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010488	chr1:152901263-153670972	Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
2	nsv535171	chr1:152901263-153670972	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
3	nsv547928	chr1:153612133-153714252	Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	esv2830411	chr1:153613393-153725007	Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
5	nsv1067771	chr1:153613593-153724866	Flanking Active TSS Bivalent Enhancer Strong transcription Weak transcription Genic enhancers Enhancers Active TSS 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 miRNA target site	48 gene(s)	inside rSNPs	diseases
6	nsv530052	chr1:153613593-153724866	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
7	nsv1005818	chr1:153613597-153724980	Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
8	nsv535173	chr1:153613597-153724980	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
9	nsv1007835	chr1:153613597-153729959	Genic enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
10	nsv535174	chr1:153613597-153729959	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
11	nsv1011897	chr1:153613597-153836703	Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
12	nsv464028	chr1:153622220-153723037	Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
13	nsv547929	chr1:153622220-153723037	Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
14	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
15	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
16	nsv1001312	chr1:153622834-153724867	Enhancers Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
17	nsv535176	chr1:153622834-153724867	Active TSS Weak transcription Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:153632000-153642200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:153632000-153642800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr1:153632400-153641600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr1:153632400-153641800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
5	chr1:153632400-153642000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr1:153632400-153642400	Weak transcription	Right Atrium	heart
7	chr1:153632600-153641400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
8	chr1:153632600-153641400	Strong transcription	Brain Cingulate Gyrus	brain
9	chr1:153632600-153641600	Strong transcription	Lung	lung
10	chr1:153632600-153641800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:153632600-153641800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr1:153632600-153641800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr1:153632600-153641800	Strong transcription	Skeletal Muscle Male	skeletal muscle
14	chr1:153632600-153641800	Strong transcription	Stomach Smooth Muscle	stomach
15	chr1:153632600-153642200	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr1:153632600-153642200	Strong transcription	Fetal Stomach	stomach
17	chr1:153632800-153641800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr1:153632800-153641800	Strong transcription	Fetal Intestine Large	intestine
19	chr1:153632800-153642000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr1:153632800-153642000	Strong transcription	Fetal Intestine Small	intestine
21	chr1:153633000-153642000	Strong transcription	H1 Cell Line	embryonic stem cell
22	chr1:153633000-153642000	Strong transcription	Primary B cells from peripheral blood	blood
23	chr1:153633200-153641400	Strong transcription	Left Ventricle	heart
24	chr1:153633200-153641600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr1:153633200-153641600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr1:153633200-153641600	Strong transcription	Right Ventricle	heart
27	chr1:153633200-153641800	Strong transcription	HUES64 Cell Line	embryonic stem cell
28	chr1:153633200-153641800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
29	chr1:153633200-153641800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr1:153633200-153641800	Strong transcription	Colon Smooth Muscle	Colon
31	chr1:153633200-153641800	Strong transcription	HSMM	muscle
32	chr1:153633200-153642000	Strong transcription	Brain Hippocampus Middle	brain
33	chr1:153633200-153642000	Strong transcription	Duodenum Mucosa	Duodenum
34	chr1:153633400-153641600	Strong transcription	HUES6 Cell Line	embryonic stem cell
35	chr1:153633400-153641800	Strong transcription	HMEC	breast
36	chr1:153633400-153641800	Strong transcription	NHEK	skin
37	chr1:153633400-153642000	Strong transcription	H9 Cell Line	embryonic stem cell
38	chr1:153633400-153642000	Strong transcription	HUES48 Cell Line	embryonic stem cell
39	chr1:153633400-153642200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr1:153633400-153642200	Strong transcription	Brain Anterior Caudate	brain
41	chr1:153633600-153641600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr1:153633600-153641600	Strong transcription	Adipose Nuclei	Adipose
43	chr1:153633600-153641600	Strong transcription	Brain Inferior Temporal Lobe	brain
44	chr1:153633600-153641600	Strong transcription	Spleen	Spleen
45	chr1:153633600-153641600	Strong transcription	HSMMtube	muscle
46	chr1:153633600-153641800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr1:153633600-153641800	Strong transcription	Brain Substantia Nigra	brain
48	chr1:153633600-153641800	Strong transcription	Rectal Mucosa Donor 29	rectum
49	chr1:153633600-153641800	Strong transcription	Rectal Mucosa Donor 31	rectum
50	chr1:153633600-153641800	Strong transcription	K562	blood

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