Variant report

Variant	rs7543790
Chromosome Location	chr1:153670313-153670314
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:153652823..153655103-chr1:153668561..153671044,2	MCF-7	breast:
2	chr1:153605443..153607985-chr1:153668432..153670638,2	K562	blood:
3	chr1:153668419..153672342-chr1:153699600..153701905,4	MCF-7	breast:
4	chr1:153649692..153651457-chr1:153668885..153672459,3	K562	blood:
5	chr1:153662725..153665367-chr1:153669060..153670825,2	MCF-7	breast:
6	chr1:153658597..153665532-chr1:153668002..153671509,8	K562	blood:
7	chr1:153669943..153671545-chr1:153672210..153674806,2	K562	blood:
8	chr1:153643715..153646402-chr1:153669799..153672333,2	K562	blood:
9	chr1:153668994..153671784-chr1:153687110..153689814,2	K562	blood:
10	chr1:153643715..153646402-chr1:153669451..153672333,3	K562	blood:
11	chr1:153670008..153671811-chr1:153675151..153676729,2	MCF-7	breast:
12	chr1:153669844..153671939-chr1:153699071..153701847,2	K562	blood:
13	chr1:153669010..153673102-chr1:153699484..153702565,5	MCF-7	breast:
14	chr1:153659769..153662936-chr1:153669671..153671743,3	K562	blood:
15	chr1:153669864..153672115-chr1:153679120..153682442,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000169418	Chromatin interaction
ENSG00000143624	Chromatin interaction
ENSG00000189171	Chromatin interaction
ENSG00000272030	Chromatin interaction
ENSG00000242565	Chromatin interaction
ENSG00000160679	Chromatin interaction
ENSG00000271853	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10082235	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs11264279	0.87[ASN][1000 genomes]
rs11805092	1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs12097043	1.00[CHB][hapmap]
rs12097725	0.87[ASN][1000 genomes]
rs28437915	0.87[ASN][1000 genomes]
rs3891075	1.00[CHB][hapmap]
rs4073768	1.00[CHB][hapmap]
rs59770064	0.87[ASN][1000 genomes]
rs61806716	0.87[ASN][1000 genomes]
rs6663988	1.00[CHB][hapmap]
rs6665831	0.87[ASN][1000 genomes]
rs6672371	1.00[CHB][hapmap]
rs6692298	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs73011738	0.87[ASN][1000 genomes]
rs73011760	0.87[ASN][1000 genomes]
rs7516222	0.87[ASN][1000 genomes]
rs7518794	0.87[ASN][1000 genomes]
rs7520299	0.87[ASN][1000 genomes]
rs7533987	1.00[CHB][hapmap]
rs7536700	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs7547783	0.87[ASN][1000 genomes]
rs7547790	0.87[ASN][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:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:153661800-153670600	Weak transcription	Colonic Mucosa	Colon
2	chr1:153669200-153670400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr1:153669200-153670400	Enhancers	Adipose Nuclei	Adipose
4	chr1:153669200-153672000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr1:153669200-153672400	Enhancers	A549	lung
6	chr1:153669400-153670400	Enhancers	H1 Cell Line	embryonic stem cell
7	chr1:153669400-153670400	Enhancers	HUVEC	blood vessel
8	chr1:153669400-153670600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr1:153669400-153670600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr1:153669400-153670600	Enhancers	HepG2	liver
11	chr1:153669400-153671200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr1:153669400-153671800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr1:153669400-153671800	Enhancers	Placenta Amnion	Placenta Amnion
14	chr1:153669400-153672000	Enhancers	Fetal Kidney	kidney
15	chr1:153669400-153672000	Enhancers	Ovary	ovary
16	chr1:153669400-153672200	Flanking Active TSS	Hela-S3	cervix
17	chr1:153669600-153670400	Enhancers	Spleen	Spleen
18	chr1:153669600-153670600	Enhancers	HUES48 Cell Line	embryonic stem cell
19	chr1:153669600-153670600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr1:153669600-153670600	Enhancers	Fetal Muscle Trunk	muscle
21	chr1:153669600-153670800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
22	chr1:153669600-153670800	Enhancers	H9 Cell Line	embryonic stem cell
23	chr1:153669600-153670800	Enhancers	Right Atrium	heart
24	chr1:153669600-153670800	Enhancers	Stomach Smooth Muscle	stomach
25	chr1:153669600-153671200	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr1:153669600-153671600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr1:153669600-153671800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr1:153669600-153671800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr1:153669600-153671800	Enhancers	Fetal Stomach	stomach
30	chr1:153669600-153672000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr1:153669600-153672000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr1:153669600-153672000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr1:153669600-153672000	Enhancers	Placenta	Placenta
34	chr1:153669600-153672200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr1:153669600-153672200	Enhancers	Stomach Mucosa	stomach
36	chr1:153669600-153672600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr1:153669800-153670400	Enhancers	Muscle Satellite Cultured Cells	--
38	chr1:153669800-153670400	Enhancers	Fetal Muscle Leg	muscle
39	chr1:153669800-153670400	Enhancers	Lung	lung
40	chr1:153669800-153670400	Enhancers	Psoas Muscle	Psoas
41	chr1:153669800-153670600	Enhancers	Rectal Smooth Muscle	rectum
42	chr1:153669800-153670800	Enhancers	Left Ventricle	heart
43	chr1:153669800-153671000	Enhancers	Pancreas	Pancrea
44	chr1:153669800-153671600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr1:153669800-153671800	Enhancers	Right Ventricle	heart
46	chr1:153669800-153671800	Enhancers	NHLF	lung
47	chr1:153669800-153672000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr1:153670000-153670400	Enhancers	Primary hematopoietic stem cells	blood
49	chr1:153670000-153670400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr1:153670000-153670400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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