Variant report

Variant	rs57536133
Chromosome Location	chr2:86041379-86041380
allele	G/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	CTCF	chr2:86041314-86041637	A549	lung:	n/a	chr2:86041504-86041520 chr2:86041498-86041519 chr2:86041503-86041521 chr2:86041505-86041518
2	CREB1	chr2:86041303-86041657	A549	lung:	n/a	n/a
3	CTCF	chr2:86041364-86041679	GM13977	blood:	n/a	chr2:86041504-86041520 chr2:86041498-86041519 chr2:86041503-86041521 chr2:86041505-86041518
4	RCOR1	chr2:86041341-86041640	HepG2	liver:	n/a	n/a
5	MXI1	chr2:86041356-86041629	Hela-S3	cervix:	n/a	n/a
6	ARID3A	chr2:86041368-86041622	HepG2	liver:	n/a	n/a
7	RAD21	chr2:86041142-86041802	HepG2	liver:	n/a	chr2:86041503-86041515 chr2:86041501-86041520
8	MYC	chr2:86041375-86041662	HUVEC	blood vessel:	n/a	n/a
9	CTCF	chr2:86041322-86041653	SK-N-SH_RA	brain:	n/a	chr2:86041504-86041520 chr2:86041498-86041519 chr2:86041503-86041521 chr2:86041505-86041518
10	CTCF	chr2:86041348-86041678	Spleen_OC	spleen:	n/a	chr2:86041504-86041520 chr2:86041498-86041519 chr2:86041503-86041521 chr2:86041505-86041518
11	SMC3	chr2:86040730-86042327	SK-N-SH	brain:	n/a	chr2:86041505-86041519 chr2:86041037-86041047
12	YY1	chr2:86041346-86041655	GM12878	blood:	n/a	n/a
13	CHD2	chr2:86041344-86041691	H1-hESC	embryonic stem cell:	n/a	n/a
14	ZNF143	chr2:86041334-86041694	H1-hESC	embryonic stem cell:	n/a	n/a
15	RAD21	chr2:86041129-86041815	ECC-1	luminal epithelium:	n/a	chr2:86041503-86041515 chr2:86041501-86041520
16	HNF4G	chr2:86041316-86041651	HepG2	liver:	n/a	n/a
17	USF2	chr2:86041374-86041627	GM12878	blood:	n/a	n/a
18	CTCF	chr2:86041273-86041806	MCF-7	breast:	n/a	chr2:86041504-86041520 chr2:86041498-86041519 chr2:86041503-86041521 chr2:86041505-86041518
19	RAD21	chr2:86041273-86041720	GM12878	blood:	n/a	chr2:86041503-86041515 chr2:86041501-86041520
20	MAFK	chr2:86041371-86041626	Hela-S3	cervix:	n/a	n/a
21	CTCF	chr2:86041192-86041829	MCF-7	breast:	n/a	chr2:86041504-86041520 chr2:86041498-86041519 chr2:86041503-86041521 chr2:86041505-86041518
22	CTCF	chr2:86041274-86041610	K562	blood:	n/a	chr2:86041504-86041520 chr2:86041498-86041519 chr2:86041503-86041521 chr2:86041505-86041518
23	CTCF	chr2:86041154-86041728	GM12878	blood:	n/a	chr2:86041504-86041520 chr2:86041498-86041519 chr2:86041503-86041521 chr2:86041505-86041518
24	EBF1	chr2:86041347-86041679	GM12878	blood:	n/a	n/a
25	TCF12	chr2:86041321-86041615	H1-hESC	embryonic stem cell:	n/a	chr2:86041563-86041570
26	CTCF	chr2:86041361-86041670	MCF-7	breast:	n/a	chr2:86041504-86041520 chr2:86041498-86041519 chr2:86041503-86041521 chr2:86041505-86041518
27	YY1	chr2:86041341-86041682	GM12892	blood:	n/a	n/a
28	RAD21	chr2:86041240-86041703	HepG2	liver:	n/a	chr2:86041503-86041515 chr2:86041501-86041520
29	SIN3AK20	chr2:86041188-86041624	A549	lung:	n/a	n/a
30	TCF12	chr2:86041249-86041669	HepG2	liver:	n/a	chr2:86041563-86041570
31	RAD21	chr2:86041243-86041731	A549	lung:	n/a	chr2:86041503-86041515 chr2:86041501-86041520
32	WRNIP1	chr2:86041347-86041679	GM12878	blood:	n/a	n/a
33	MAX	chr2:86041289-86041752	H1-hESC	embryonic stem cell:	n/a	n/a
34	MAFK	chr2:86041346-86041580	HepG2	liver:	n/a	n/a
35	RAD21	chr2:86041182-86041741	H1-hESC	embryonic stem cell:	n/a	chr2:86041503-86041515 chr2:86041501-86041520
36	CTCF	chr2:86041342-86041680	NHEK	skin:	n/a	chr2:86041504-86041520 chr2:86041498-86041519 chr2:86041503-86041521 chr2:86041505-86041518
37	MYC	chr2:86041356-86041642	K562	blood:	n/a	n/a
38	POLR2A	chr2:86041346-86041628	Hela-S3	cervix:	n/a	n/a
39	RAD21	chr2:86041150-86041864	MCF-7	breast:	n/a	chr2:86041503-86041515 chr2:86041501-86041520
40	CTCF	chr2:86041353-86041668	K562	blood:	n/a	chr2:86041504-86041520 chr2:86041498-86041519 chr2:86041503-86041521 chr2:86041505-86041518
41	RAD21	chr2:86041058-86041949	IMR90	lung:	n/a	chr2:86041503-86041515 chr2:86041501-86041520
42	MAZ	chr2:86041370-86041652	HepG2	liver:	n/a	n/a
43	CHD1	chr2:86041185-86041873	IMR90	lung:	n/a	n/a
44	TCF12	chr2:86041353-86041596	GM12878	blood:	n/a	chr2:86041563-86041570
45	CTCF	chr2:86041346-86041677	GM19240	blood:	n/a	chr2:86041504-86041520 chr2:86041498-86041519 chr2:86041503-86041521 chr2:86041505-86041518
46	MAZ	chr2:86041304-86041643	Hela-S3	cervix:	n/a	n/a
47	YY1	chr2:86041241-86041617	HepG2	liver:	n/a	n/a
48	ZNF143	chr2:86041324-86041693	GM12878	blood:	n/a	n/a
49	RAD21	chr2:86041275-86041707	HepG2	liver:	n/a	chr2:86041503-86041515 chr2:86041501-86041520
50	CTCF	chr2:86041366-86041659	Pancreas_OC	pancreas:	n/a	chr2:86041504-86041520 chr2:86041498-86041519 chr2:86041503-86041521 chr2:86041505-86041518

No.	Distal block	Cell Line	Cell type
1	chr2:86025084..86025806-chr2:86041078..86041588,2	MCF-7	breast:
2	chr2:86041294..86041978-chr2:86054251..86055110,2	K562	blood:
3	chr2:85977336..85978647-chr2:86040499..86041691,7	MCF-7	breast:
4	chr2:85955821..85957008-chr2:86041027..86041954,12	MCF-7	breast:
5	chr2:85963690..85965421-chr2:86040273..86041784,2	MCF-7	breast:
6	chr2:85977304..85978300-chr2:86041004..86041953,11	MCF-7	breast:
7	chr2:85906030..85906925-chr2:86041040..86041639,4	MCF-7	breast:
8	chr2:85996969..85997680-chr2:86041024..86041767,2	K562	blood:
9	chr2:85977766..85978267-chr2:86041056..86041985,2	K562	blood:
10	chr2:85906761..85907337-chr2:86041197..86041830,2	K562	blood:
11	chr2:85933286..85934066-chr2:86041050..86041981,2	K562	blood:
12	chr2:85955246..85956833-chr2:86040551..86042336,26	MCF-7	breast:

Variant related genes	Relation type
ENSG00000229498	TF binding region
ENSG00000168874	Chromatin interaction
ENSG00000199687	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10192507	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13422943	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13423116	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs55637101	0.93[EUR][1000 genomes]
rs55746113	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs55763047	0.93[EUR][1000 genomes]
rs55841727	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56075967	0.93[EUR][1000 genomes]
rs56232523	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56363459	0.93[EUR][1000 genomes]
rs6724442	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6753123	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72842020	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs72842049	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs72842057	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72842058	0.93[EUR][1000 genomes]
rs73943774	0.93[EUR][1000 genomes]
rs7591383	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.83[ASN][1000 genomes]

No data

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86024600-86043600	Weak transcription	Right Ventricle	heart
2	chr2:86029800-86054400	Weak transcription	Spleen	Spleen
3	chr2:86037000-86041400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr2:86037200-86041400	Enhancers	Fetal Lung	lung
5	chr2:86037600-86041400	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr2:86037600-86042600	Enhancers	Skeletal Muscle Female	skeletal muscle
7	chr2:86039000-86042400	Weak transcription	Left Ventricle	heart
8	chr2:86039800-86042000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr2:86039800-86074800	Weak transcription	Aorta	Aorta
10	chr2:86040800-86041400	Bivalent Enhancer	Fetal Muscle Leg	muscle
11	chr2:86040800-86041400	Enhancers	HSMM	muscle
12	chr2:86040800-86042000	Enhancers	Brain Hippocampus Middle	brain
13	chr2:86040800-86042400	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr2:86040800-86042600	Enhancers	A549	lung
15	chr2:86041000-86041400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr2:86041000-86041400	Enhancers	Adipose Nuclei	Adipose
17	chr2:86041000-86041400	Enhancers	Liver	Liver
18	chr2:86041000-86041400	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr2:86041000-86041400	Enhancers	Lung	lung
20	chr2:86041000-86041400	Enhancers	Ovary	ovary
21	chr2:86041000-86041400	Enhancers	Psoas Muscle	Psoas
22	chr2:86041000-86041400	Enhancers	HSMMtube	muscle
23	chr2:86041000-86041600	Bivalent Enhancer	Fetal Stomach	stomach
24	chr2:86041000-86041800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr2:86041000-86041800	Enhancers	Brain Germinal Matrix	brain
26	chr2:86041000-86042200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr2:86041000-86042200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr2:86041000-86042600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
29	chr2:86041000-86042600	Enhancers	Pancreas	Pancrea
30	chr2:86041200-86041400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr2:86041200-86041400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr2:86041200-86041400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr2:86041200-86041400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
34	chr2:86041200-86041400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr2:86041200-86041400	Enhancers	Muscle Satellite Cultured Cells	--
36	chr2:86041200-86041400	Enhancers	Colon Smooth Muscle	Colon
37	chr2:86041200-86041400	Enhancers	Esophagus	oesophagus
38	chr2:86041200-86041400	Enhancers	Fetal Heart	heart
39	chr2:86041200-86041400	Bivalent Enhancer	Fetal Intestine Large	intestine
40	chr2:86041200-86041400	Bivalent Enhancer	Placenta	Placenta
41	chr2:86041200-86041400	Enhancers	Rectal Mucosa Donor 31	rectum
42	chr2:86041200-86041400	Bivalent Enhancer	Stomach Smooth Muscle	stomach
43	chr2:86041200-86041400	Enhancers	Dnd41	blood
44	chr2:86041200-86041400	Enhancers	NHDF-Ad	bronchial
45	chr2:86041200-86041400	Enhancers	Osteobl	bone
46	chr2:86041200-86041600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
47	chr2:86041200-86041600	Flanking Active TSS	Brain Anterior Caudate	brain
48	chr2:86041200-86041600	Enhancers	Brain Cingulate Gyrus	brain
49	chr2:86041200-86041600	Enhancers	Duodenum Smooth Muscle	Duodenum
50	chr2:86041200-86041600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland

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