Variant report

Variant	rs57450243
Chromosome Location	chr1:228354636-228354637
allele	A/G
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	SIN3AK20	chr1:228352787-228354747	MCF-7	breast:	n/a	n/a
2	CBX3	chr1:228352867-228354648	K562	blood:	n/a	n/a
3	CREB1	chr1:228352858-228354746	K562	blood:	n/a	n/a
4	ZMIZ1	chr1:228352902-228354899	K562	blood:	n/a	n/a
5	POLR2A	chr1:228352004-228354681	Hela-S3	cervix:	n/a	n/a
6	SP1	chr1:228352764-228354669	HCT-116	colon:	n/a	chr1:228353360-228353369 chr1:228353884-228353893 chr1:228353285-228353297 chr1:228353211-228353220 chr1:228353260-228353270 chr1:228353212-228353221 chr1:228353286-228353295 chr1:228353285-228353297 chr1:228353953-228353963 chr1:228353210-228353222 chr1:228353242-228353251 chr1:228353422-228353436 chr1:228353421-228353432 chr1:228353260-228353270 chr1:228353211-228353220
7	JUND	chr1:228352837-228355022	SK-N-SH	brain:	n/a	chr1:228353288-228353297 chr1:228353424-228353433
8	MAX	chr1:228352872-228354644	MCF-7	breast:	n/a	chr1:228353956-228353965
9	TBL1XR1	chr1:228353002-228354666	K562	blood:	n/a	n/a
10	POLR2A	chr1:228352838-228354654	K562	blood:	n/a	n/a
11	MAX	chr1:228352815-228354755	HCT-116	colon:	n/a	chr1:228353956-228353965
12	MXI1	chr1:228352668-228354874	IMR90	lung:	n/a	n/a
13	CTCF	chr1:228352466-228355058	A549	lung:	n/a	chr1:228353442-228353460 chr1:228354282-228354295 chr1:228353426-228353444 chr1:228353443-228353459 chr1:228353445-228353454 chr1:228354279-228354292 chr1:228353428-228353441 chr1:228354279-228354292 chr1:228353445-228353458 chr1:228354511-228354524 chr1:228354283-228354292 chr1:228353944-228353962
14	SIN3A	chr1:228354520-228354692	GM12878	blood:	n/a	n/a
15	MAZ	chr1:228352862-228354786	IMR90	lung:	n/a	chr1:228353956-228353965
16	POLR2A	chr1:228352861-228354664	GM12878	blood:	n/a	n/a
17	CREB1	chr1:228352851-228354931	K562	blood:	n/a	n/a
18	POLR2A	chr1:228352895-228354798	PBDE	blood:	n/a	n/a
19	ELF1	chr1:228352855-228354738	HCT-116	colon:	n/a	chr1:228353436-228353448
20	SMARCB1	chr1:228352949-228354646	Hela-S3	cervix:	n/a	n/a
21	JUND	chr1:228352850-228354859	GM12878	blood:	n/a	chr1:228353288-228353297 chr1:228353424-228353433
22	CHD1	chr1:228352856-228355144	IMR90	lung:	n/a	n/a
23	NR2F2	chr1:228352066-228354805	K562	blood:	n/a	n/a
24	CREB1	chr1:228352920-228354659	HepG2	liver:	n/a	n/a
25	CTCF	chr1:228352851-228354841	SK-N-SH	brain:	n/a	chr1:228353442-228353460 chr1:228354282-228354295 chr1:228353426-228353444 chr1:228353443-228353459 chr1:228353445-228353454 chr1:228354279-228354292 chr1:228353428-228353441 chr1:228354279-228354292 chr1:228353445-228353458 chr1:228354511-228354524 chr1:228354283-228354292 chr1:228353944-228353962
26	HCFC1	chr1:228352820-228355121	Hela-S3	cervix:	n/a	n/a
27	MAX	chr1:228352835-228354639	K562	blood:	n/a	chr1:228353956-228353965
28	MXI1	chr1:228352623-228354972	SK-N-SH	brain:	n/a	n/a
29	UBTF	chr1:228354568-228354665	K562	blood:	n/a	n/a
30	JUN	chr1:228352007-228355103	K562	blood:	n/a	chr1:228353288-228353297 chr1:228353839-228353852 chr1:228353424-228353433
31	POLR2A	chr1:228352604-228354771	H1-hESC	embryonic stem cell:	n/a	n/a
32	ELF1	chr1:228352898-228354650	GM12878	blood:	n/a	chr1:228353436-228353448
33	MAX	chr1:228352794-228354675	HCT-116	colon:	n/a	chr1:228353956-228353965
34	CREB1	chr1:228352839-228354672	HepG2	liver:	n/a	n/a
35	POLR2A	chr1:228352814-228354675	GM12878	blood:	n/a	n/a
36	REST	chr1:228352525-228354717	H1-neurons	neurons:	n/a	chr1:228354094-228354112 chr1:228354097-228354110 chr1:228354093-228354113 chr1:228354095-228354105
37	BACH1	chr1:228352968-228354682	H1-hESC	embryonic stem cell:	n/a	n/a
38	MAX	chr1:228352972-228354659	K562	blood:	n/a	chr1:228353956-228353965
39	POLR2A	chr1:228352630-228354714	IMR90	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:228352301..228356055-chr1:228400478..228402839,5	K562	blood:
2	chr1:228288054..228293498-chr1:228351743..228355627,9	K562	blood:
3	chr1:228289454..228291459-chr1:228353037..228354863,4	MCF-7	breast:
4	chr1:228353096..228354983-chr1:228611648..228613946,2	MCF-7	breast:
5	chr1:228351819..228355005-chr1:228461791..228464668,3	K562	blood:
6	chr1:228353787..228355336-chr1:228557501..228560322,2	K562	blood:
7	chr1:228350414..228357594-chr1:228359448..228365919,31	MCF-7	breast:
8	chr1:228353494..228355911-chr1:228462112..228465805,3	K562	blood:
9	chr1:228351867..228354707-chr1:228644066..228646838,3	K562	blood:
10	chr1:149858478..149860585-chr1:228353320..228355581,2	MCF-7	breast:
11	chr1:228353118..228354912-chr1:228591904..228594294,2	MCF-7	breast:
12	chr1:16839413..16842020-chr1:228351900..228354704,2	K562	blood:
13	chr1:228294689..228298417-chr1:228352364..228354856,6	MCF-7	breast:
14	chr1:228289288..228292230-chr1:228352223..228354730,2	MCF-7	breast:
15	chr1:228288384..228298705-chr1:228351640..228357240,26	K562	blood:
16	chr1:228268335..228271224-chr1:228352172..228356089,4	K562	blood:
17	chr1:228268894..228271778-chr1:228351302..228354925,4	MCF-7	breast:
18	chr1:228295286..228298610-chr1:228351640..228355026,4	K562	blood:
19	chr1:228283995..228287162-chr1:228352238..228356052,3	K562	blood:
20	chr1:228352175..228354992-chr1:228642370..228645679,3	K562	blood:
21	chr1:228350980..228355955-chr1:228356979..228359321,5	MCF-7	breast:
22	chr1:228353154..228354800-chr1:229692918..229695229,2	K562	blood:
23	chr1:228275377..228276887-chr1:228353250..228355389,2	K562	blood:
24	chr1:228353428..228355083-chr1:228698397..228701080,2	K562	blood:

Variant related genes	Relation type
IBA57	TF binding region
IBA57-AS1	TF binding region
ENSG00000162913	Chromatin interaction
ENSG00000269890	Chromatin interaction
ENSG00000181218	Chromatin interaction
ENSG00000135776	Chromatin interaction
ENSG00000162910	Chromatin interaction
ENSG00000206652	Chromatin interaction
ENSG00000184260	Chromatin interaction
ENSG00000215811	Chromatin interaction
ENSG00000178096	Chromatin interaction
ENSG00000264944	Chromatin interaction
ENSG00000261135	Chromatin interaction
ENSG00000154358	Chromatin interaction
ENSG00000143761	Chromatin interaction
ENSG00000168148	Chromatin interaction
ENSG00000143793	Chromatin interaction
ENSG00000196890	Chromatin interaction
ENSG00000269934	Chromatin interaction
ENSG00000184270	Chromatin interaction
ENSG00000181873	Chromatin interaction
ENSG00000154370	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs55954688	1.00[AFR][1000 genomes]
rs56226852	1.00[AFR][1000 genomes]
rs56831205	1.00[AFR][1000 genomes]
rs57446195	1.00[AFR][1000 genomes]
rs58035269	1.00[AFR][1000 genomes]
rs60245137	1.00[AFR][1000 genomes]
rs61737797	1.00[AFR][1000 genomes]
rs74140907	1.00[AFR][1000 genomes]
rs74140912	1.00[AFR][1000 genomes]
rs74140914	1.00[AFR][1000 genomes]
rs74140915	1.00[AFR][1000 genomes]
rs74140918	1.00[AFR][1000 genomes]
rs74140924	1.00[AFR][1000 genomes]
rs74140925	1.00[AFR][1000 genomes]
rs74140960	1.00[AFR][1000 genomes]
rs74140961	1.00[AFR][1000 genomes]
rs74140965	1.00[AFR][1000 genomes]
rs74143623	1.00[AFR][1000 genomes]
rs74143632	1.00[AFR][1000 genomes]
rs74143663	1.00[AFR][1000 genomes]
rs74143665	1.00[AFR][1000 genomes]
rs74143667	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv32853	chr1:227880116-228806209	Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
2	nsv826908	chr1:227895386-228691100	Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
3	nsv523935	chr1:228038124-228681749	Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	137 gene(s)	inside rSNPs	diseases
4	nsv873252	chr1:228174528-228371551	Strong transcription Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
5	nsv873253	chr1:228231601-228537942	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
6	nsv873254	chr1:228231601-228543800	Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
7	nsv873255	chr1:228254753-228684779	Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	133 gene(s)	inside rSNPs	diseases
8	nsv827019	chr1:228314167-228651020	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	106 gene(s)	inside rSNPs	diseases
9	nsv873256	chr1:228322826-228359775	Weak transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	65 gene(s)	inside rSNPs	diseases
10	nsv873257	chr1:228322826-228412106	Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
11	nsv549288	chr1:228327659-228363750	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
12	nsv549289	chr1:228327999-228371098	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised 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	64 gene(s)	inside rSNPs	diseases
13	nsv873258	chr1:228334088-228359775	Flanking Active TSS Strong transcription Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
14	nsv873259	chr1:228334277-228359775	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
15	nsv873260	chr1:228334277-228371098	Strong transcription Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
16	nsv873261	chr1:228338939-228359775	Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
17	nsv873262	chr1:228340653-228371098	Weak transcription Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
18	nsv1012078	chr1:228340876-228521843	Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	63 gene(s)	inside rSNPs	diseases
19	nsv535320	chr1:228340876-228521843	Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	63 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:228352600-228354800	Active TSS	HSMM	muscle
2	chr1:228352800-228354800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr1:228352800-228354800	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr1:228352800-228354800	Active TSS	Esophagus	oesophagus
5	chr1:228353000-228355000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:228354000-228354800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:228354000-228354800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
8	chr1:228354000-228354800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
9	chr1:228354000-228354800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
10	chr1:228354000-228354800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
11	chr1:228354000-228354800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr1:228354000-228354800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr1:228354000-228354800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr1:228354000-228354800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr1:228354000-228354800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
16	chr1:228354000-228354800	Flanking Active TSS	Fetal Intestine Small	intestine
17	chr1:228354000-228354800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
18	chr1:228354000-228354800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
19	chr1:228354000-228354800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
20	chr1:228354000-228354800	Flanking Active TSS	Stomach Smooth Muscle	stomach
21	chr1:228354000-228354800	Flanking Active TSS	HMEC	breast
22	chr1:228354000-228354800	Flanking Active TSS	NH-A	brain
23	chr1:228354200-228354800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr1:228354200-228354800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
25	chr1:228354200-228354800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr1:228354200-228354800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr1:228354200-228354800	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr1:228354200-228354800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr1:228354200-228354800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
30	chr1:228354200-228354800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr1:228354200-228354800	Flanking Active TSS	Liver	Liver
32	chr1:228354200-228354800	Flanking Active TSS	Brain Angular Gyrus	brain
33	chr1:228354200-228354800	Flanking Active TSS	Brain Anterior Caudate	brain
34	chr1:228354200-228354800	Flanking Active TSS	Brain Cingulate Gyrus	brain
35	chr1:228354200-228354800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
36	chr1:228354200-228354800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
37	chr1:228354200-228354800	Flanking Active TSS	Colonic Mucosa	Colon
38	chr1:228354200-228354800	Flanking Active TSS	Duodenum Mucosa	Duodenum
39	chr1:228354200-228354800	Flanking Active TSS	Fetal Lung	lung
40	chr1:228354200-228354800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
41	chr1:228354200-228354800	Flanking Active TSS	Dnd41	blood
42	chr1:228354200-228354800	Flanking Active TSS	GM12878-XiMat	blood
43	chr1:228354200-228354800	Flanking Active TSS	HepG2	liver
44	chr1:228354200-228354800	Flanking Active TSS	HSMMtube	muscle
45	chr1:228354200-228354800	Flanking Active TSS	K562	blood
46	chr1:228354200-228354800	Flanking Active TSS	NHDF-Ad	bronchial
47	chr1:228354200-228354800	Flanking Active TSS	NHEK	skin
48	chr1:228354200-228354800	Flanking Active TSS	Osteobl	bone
49	chr1:228354200-228355000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr1:228354400-228354800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell

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