Variant report

Variant	rs62183858
Chromosome Location	chr2:172963940-172963941
allele	C/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	ZBTB7A	chr2:172963478-172964146	K562	blood:	n/a	n/a
2	CBX3	chr2:172963048-172964290	K562	blood:	n/a	n/a
3	FOSL1	chr2:172963444-172964037	K562	blood:	n/a	chr2:172963922-172963932 chr2:172963696-172963706 chr2:172963696-172963706 chr2:172963922-172963932 chr2:172963696-172963706 chr2:172963921-172963933 chr2:172963696-172963706 chr2:172963922-172963932 chr2:172963695-172963706 chr2:172963923-172963932 chr2:172963695-172963707 chr2:172963696-172963705 chr2:172963922-172963932
4	BACH1	chr2:172963906-172964139	H1-hESC	embryonic stem cell:	n/a	n/a
5	USF1	chr2:172963801-172964427	K562	blood:	n/a	chr2:172964120-172964129 chr2:172964114-172964135 chr2:172963812-172963828 chr2:172964120-172964129 chr2:172964121-172964130 chr2:172963895-172963911 chr2:172963815-172963831
6	MAX	chr2:172963532-172964270	SK-N-SH	brain:	n/a	chr2:172963969-172963979 chr2:172963999-172964008 chr2:172964119-172964130 chr2:172964120-172964129 chr2:172964119-172964130
7	TEAD4	chr2:172963422-172964201	SK-N-SH	brain:	n/a	n/a
8	FOS	chr2:172963346-172964208	MCF10A-Er-Src	breast:	n/a	chr2:172963922-172963932 chr2:172963696-172963706 chr2:172963921-172963932 chr2:172963696-172963706 chr2:172963922-172963932 chr2:172963696-172963706 chr2:172963921-172963933 chr2:172963696-172963706 chr2:172963922-172963932 chr2:172963923-172963932 chr2:172963695-172963707 chr2:172963696-172963705 chr2:172963922-172963932
9	USF1	chr2:172963208-172964325	HCT-116	colon:	n/a	chr2:172964120-172964129 chr2:172964114-172964135 chr2:172963812-172963828 chr2:172963774-172963790 chr2:172964120-172964129 chr2:172964121-172964130 chr2:172963895-172963911 chr2:172963815-172963831
10	HDAC2	chr2:172963535-172964252	MCF-7	breast:	n/a	chr2:172963624-172963633
11	EP300	chr2:172963523-172964175	K562	blood:	n/a	chr2:172963905-172963921 chr2:172963934-172963943
12	EGR1	chr2:172963611-172964074	H1-hESC	embryonic stem cell:	n/a	chr2:172963856-172963870 chr2:172963966-172963979 chr2:172963971-172963981 chr2:172963966-172963979 chr2:172963968-172963978 chr2:172963965-172963980
13	YY1	chr2:172963478-172964153	HepG2	liver:	n/a	chr2:172963884-172963895 chr2:172963931-172963940 chr2:172963822-172963833 chr2:172963971-172963980
14	KAP1	chr2:172963093-172963989	HEK293	kidney:	n/a	n/a
15	POLR2A	chr2:172963547-172964206	K562	blood:	n/a	n/a
16	MAZ	chr2:172963793-172964114	GM12878	blood:	n/a	chr2:172963969-172963979 chr2:172963999-172964008
17	TCF7L2	chr2:172963526-172964104	MCF-7	breast:	n/a	chr2:172963923-172963932 chr2:172963696-172963705
18	MAX	chr2:172963212-172964408	HCT-116	colon:	n/a	chr2:172963969-172963979 chr2:172963999-172964008 chr2:172964119-172964130 chr2:172964120-172964129 chr2:172964119-172964130
19	SIN3AK20	chr2:172963588-172964174	K562	blood:	n/a	n/a
20	POLR2A	chr2:172963358-172964179	ECC-1	luminal epithelium:	n/a	n/a
21	USF1	chr2:172963874-172964383	A549	lung:	n/a	chr2:172964120-172964129 chr2:172964114-172964135 chr2:172964120-172964129 chr2:172964121-172964130 chr2:172963895-172963911
22	MAX	chr2:172963284-172964218	ECC-1	luminal epithelium:	n/a	chr2:172963969-172963979 chr2:172963999-172964008 chr2:172964119-172964130 chr2:172964120-172964129 chr2:172964119-172964130
23	HMGN3	chr2:172963547-172964203	K562	blood:	n/a	chr2:172963695-172963704 chr2:172963924-172963933
24	EGR1	chr2:172963698-172963996	GM12878	blood:	n/a	chr2:172963856-172963870 chr2:172963966-172963979 chr2:172963971-172963981 chr2:172963966-172963979 chr2:172963968-172963978 chr2:172963965-172963980
25	USF1	chr2:172963860-172964294	H1-hESC	embryonic stem cell:	n/a	chr2:172964120-172964129 chr2:172964114-172964135 chr2:172964120-172964129 chr2:172964121-172964130 chr2:172963895-172963911
26	ZBTB7A	chr2:172963409-172964253	ECC-1	luminal epithelium:	n/a	n/a
27	CTCF	chr2:172963872-172964059	GM12878	blood:	n/a	n/a
28	ZBTB7A	chr2:172963420-172964216	K562	blood:	n/a	n/a
29	FOS	chr2:172963578-172964080	MCF10A-Er-Src	breast:	n/a	chr2:172963922-172963932 chr2:172963696-172963706 chr2:172963921-172963932 chr2:172963696-172963706 chr2:172963922-172963932 chr2:172963696-172963706 chr2:172963921-172963933 chr2:172963696-172963706 chr2:172963922-172963932 chr2:172963923-172963932 chr2:172963695-172963707 chr2:172963696-172963705 chr2:172963922-172963932
30	ZKSCAN1	chr2:172963423-172964104	Hela-S3	cervix:	n/a	n/a
31	RCOR1	chr2:172963555-172964159	K562	blood:	n/a	n/a
32	ELF1	chr2:172963673-172964177	K562	blood:	n/a	chr2:172963934-172963943
33	MAX	chr2:172963294-172964342	MCF-7	breast:	n/a	chr2:172963969-172963979 chr2:172963999-172964008 chr2:172964119-172964130 chr2:172964120-172964129 chr2:172964119-172964130
34	SUZ12	chr2:172959343-172964157	H1-hESC	embryonic stem cell:	n/a	n/a
35	MAX	chr2:172962562-172964280	Hela-S3	cervix:	n/a	chr2:172963969-172963979 chr2:172963999-172964008 chr2:172964119-172964130 chr2:172964120-172964129 chr2:172964119-172964130
36	JUND	chr2:172963460-172964107	HepG2	liver:	n/a	chr2:172963922-172963932 chr2:172963921-172963932 chr2:172963696-172963706 chr2:172963696-172963706 chr2:172963922-172963932 chr2:172963696-172963706 chr2:172963921-172963933 chr2:172963696-172963706 chr2:172963922-172963932 chr2:172963923-172963932 chr2:172963695-172963707 chr2:172963696-172963705 chr2:172963922-172963932
37	USF1	chr2:172963887-172964363	H1-hESC	embryonic stem cell:	n/a	chr2:172964120-172964129 chr2:172964114-172964135 chr2:172964120-172964129 chr2:172964121-172964130 chr2:172963895-172963911
38	POLR2A	chr2:172963351-172963998	SK-N-MC	brain:	n/a	n/a
39	EGR1	chr2:172963511-172964192	ECC-1	luminal epithelium:	n/a	chr2:172963856-172963870 chr2:172963966-172963979 chr2:172963971-172963981 chr2:172963966-172963979 chr2:172963968-172963978 chr2:172963965-172963980
40	JUND	chr2:172963160-172964167	SK-N-SH	brain:	n/a	chr2:172963922-172963932 chr2:172963921-172963932 chr2:172963696-172963706 chr2:172963696-172963706 chr2:172963922-172963932 chr2:172963696-172963706 chr2:172963921-172963933 chr2:172963696-172963706 chr2:172963922-172963932 chr2:172963923-172963932 chr2:172963695-172963707 chr2:172963696-172963705 chr2:172963922-172963932
41	YY1	chr2:172963502-172964257	ECC-1	luminal epithelium:	n/a	chr2:172963884-172963895 chr2:172963931-172963940 chr2:172963822-172963833 chr2:172963971-172963980
42	CCNT2	chr2:172963486-172964191	K562	blood:	n/a	chr2:172963971-172963980
43	FOSL2	chr2:172963448-172964245	SK-N-SH	brain:	n/a	chr2:172963922-172963932 chr2:172963696-172963706 chr2:172963696-172963706 chr2:172963922-172963932 chr2:172963696-172963706 chr2:172963921-172963933 chr2:172963696-172963706 chr2:172963922-172963932 chr2:172963923-172963932 chr2:172963695-172963707 chr2:172963696-172963705 chr2:172963922-172963932
44	RCOR1	chr2:172963270-172964214	K562	blood:	n/a	n/a
45	TCF7L2	chr2:172963509-172964442	HEK293	kidney:	n/a	chr2:172963923-172963932 chr2:172963696-172963705
46	POLR2A	chr2:172963620-172964142	A549	lung:	n/a	n/a
47	JUN	chr2:172963495-172964167	K562	blood:	n/a	chr2:172963922-172963932 chr2:172963696-172963706 chr2:172963696-172963706 chr2:172963922-172963932 chr2:172963696-172963706 chr2:172963921-172963933 chr2:172963696-172963706 chr2:172963922-172963932 chr2:172963923-172963932 chr2:172963695-172963707 chr2:172963696-172963705 chr2:172963922-172963932
48	HDAC2	chr2:172963485-172964253	MCF-7	breast:	n/a	chr2:172963624-172963633
49	MAX	chr2:172963113-172964397	HCT-116	colon:	n/a	chr2:172963969-172963979 chr2:172963999-172964008 chr2:172964119-172964130 chr2:172964120-172964129 chr2:172964119-172964130
50	MAX	chr2:172963341-172964386	A549	lung:	n/a	chr2:172963969-172963979 chr2:172963999-172964008 chr2:172964119-172964130 chr2:172964120-172964129 chr2:172964119-172964130

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:172963910-172963960	ovcar-3	ovarian:	n/a
2	chr2:172963910-172963960	HAEpiC	amniotic membrane:	n/a
3	chr2:172963910-172963960	AoSMC	blood vessel:	n/a
4	chr2:172963910-172963960	BJ	skin:	n/a
5	chr2:172963910-172963960	Hela-S3	cervix:	n/a
6	chr2:172963910-172963960	HCM	heart:	n/a
7	chr2:172963910-172963960	MCF10A-Er-Src	breast:	n/a
8	chr2:172963910-172963960	NT2-D1	testis:	n/a
9	chr2:172963910-172963960	Caco-2	colon:	n/a
10	chr2:172963910-172963960	SAEC	small airway:	n/a
11	chr2:172963910-172963960	AG09309	skin:	n/a
12	chr2:172963910-172963960	HPAEpiC	pulmonary alveolar:	n/a
13	chr2:172963910-172963960	GM06990	blood:	n/a
14	chr2:172963910-172963960	A549	lung:	n/a
15	chr2:172963910-172963960	HEEpiC	esophagus:	n/a
16	chr2:172963910-172963960	MCF-7	breast:	n/a
17	chr2:172963910-172963960	U87	brain:	n/a
18	chr2:172963910-172963960	GM12892	blood:	n/a
19	chr2:172963910-172963960	PFSK-1	brain:	n/a
20	chr2:172963910-172963960	HRPEpiC	eye:	n/a
21	chr2:172963910-172963960	PANC-1	pancreas:	n/a
22	chr2:172963910-172963960	HCT-116	colon:	n/a
23	chr2:172963910-172963960	GM19239	blood:	n/a
24	chr2:172963910-172963960	BE2_C	brain:	n/a
25	chr2:172963910-172963960	PrEC	prostate:	n/a
26	chr2:172963910-172963960	Jurkat	blood:	n/a
27	chr2:172963910-172963960	SK-N-SH_RA	brain:	n/a
28	chr2:172963910-172963960	RPTEC	kidney:	n/a
29	chr2:172963910-172963960	NB4	blood:	n/a
30	chr2:172963910-172963960	NHDF-neo	bronchial:	n/a
31	chr2:172963910-172963960	SK-N-MC	brain:	n/a
32	chr2:172963910-172963960	HRE	kidney:	n/a
33	chr2:172963910-172963960	GM12878	blood:	n/a
34	chr2:172963910-172963960	HUVEC	blood vessel:	n/a
35	chr2:172963910-172963960	Hepatocyte	liver:	n/a
36	chr2:172963910-172963960	SK-N-SH	brain:	n/a
37	chr2:172963910-172963960	SKMC	muscle:	n/a
38	chr2:172963910-172963960	HEK293	kidney:	embryo
39	chr2:172963910-172963960	NH-A	brain:	n/a
40	chr2:172963910-172963960	T-47D	breast:	n/a
41	chr2:172963910-172963960	HMEC	breast:	n/a
42	chr2:172963910-172963960	CMK	blood:	n/a
43	chr2:172963910-172963960	NHBE	bronchial:	n/a
44	chr2:172963910-172963960	IMR90	lung:	fetal
45	chr2:172963910-172963960	HCF	heart:	n/a
46	chr2:172963910-172963960	AG10803	skin:	n/a
47	chr2:172963910-172963960	HepG2	liver:	n/a
48	chr2:172963910-172963960	HRCEpiC	kidney:	n/a
49	chr2:172963910-172963960	HCPEpiC	choroid plexus:	n/a
50	chr2:172963910-172963960	ECC-1	luminal epithelium:	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:172777989..172784973-chr2:172962042..172968003,11	K562	blood:
2	chr2:172809336..172811579-chr2:172962868..172964693,2	MCF-7	breast:
3	chr2:172785631..172787441-chr2:172963287..172967439,3	MCF-7	breast:
4	chr2:172748441..172750736-chr2:172963868..172965798,2	K562	blood:
5	chr2:172875314..172877741-chr2:172963379..172965447,2	MCF-7	breast:
6	chr2:172819893..172822216-chr2:172962183..172964944,2	MCF-7	breast:
7	chr2:172882349..172884255-chr2:172963176..172965606,2	K562	blood:
8	chr2:172862808..172868920-chr2:172961807..172971063,13	K562	blood:
9	chr2:172777483..172780736-chr2:172963868..172966476,3	MCF-7	breast:
10	chr2:172863707..172866142-chr2:172962756..172964969,3	MCF-7	breast:
11	chr2:172914458..172918465-chr2:172959410..172965426,7	MCF-7	breast:
12	chr2:172884611..172887784-chr2:172962343..172966613,4	K562	blood:
13	chr2:172885213..172887682-chr2:172962343..172965324,2	K562	blood:
14	chr2:172913443..172915901-chr2:172963690..172966629,2	MCF-7	breast:
15	chr2:172748692..172750965-chr2:172962216..172964042,2	MCF-7	breast:
16	chr2:172542535..172545589-chr2:172963585..172967366,4	K562	blood:
17	chr2:172950225..172950954-chr2:172963521..172964049,2	MCF-7	breast:
18	chr2:172777776..172780880-chr2:172960804..172964845,5	K562	blood:

Variant related genes	Relation type
ENSG00000236651	TF binding region
ENSG00000236651	CpG island
ENSG00000115840	Chromatin interaction
ENSG00000077380	Chromatin interaction
ENSG00000172878	Chromatin interaction
ENSG00000144355	Chromatin interaction
ENSG00000128708	Chromatin interaction

rs_ID	r²[population]
rs1001780	1.00[ASN][1000 genomes]
rs12469319	0.84[EUR][1000 genomes]
rs13388257	0.84[EUR][1000 genomes]
rs13390848	0.84[EUR][1000 genomes]
rs17726121	1.00[ASN][1000 genomes]
rs62183854	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs62183855	0.84[EUR][1000 genomes]
rs62183857	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62183859	1.00[ASN][1000 genomes]
rs62184960	1.00[ASN][1000 genomes]
rs62184962	1.00[ASN][1000 genomes]

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172960400-172964600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:172960400-172965400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
3	chr2:172960400-172966200	Bivalent Enhancer	Primary B cells from peripheral blood	blood
4	chr2:172960400-172966800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
5	chr2:172960600-172966400	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
6	chr2:172960800-172966400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
7	chr2:172961200-172965000	Bivalent/Poised TSS	Fetal Brain Female	brain
8	chr2:172961600-172964000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
9	chr2:172961600-172966600	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
10	chr2:172961800-172964000	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
11	chr2:172961800-172966000	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
12	chr2:172962000-172964000	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
13	chr2:172962000-172964200	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
14	chr2:172962000-172964800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
15	chr2:172962200-172965400	Bivalent Enhancer	Primary T helper naive cells fromperipheralblood	blood
16	chr2:172962200-172966600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
17	chr2:172963000-172964000	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
18	chr2:172963000-172964000	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
19	chr2:172963000-172967000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr2:172963200-172964600	Flanking Active TSS	NHEK	skin
21	chr2:172963200-172964800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
22	chr2:172963200-172965000	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
23	chr2:172963400-172964000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
24	chr2:172963400-172964000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
25	chr2:172963400-172964000	Bivalent Enhancer	Liver	Liver
26	chr2:172963400-172964000	Bivalent Enhancer	Fetal Heart	heart
27	chr2:172963400-172964000	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
28	chr2:172963400-172964000	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
29	chr2:172963400-172964200	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr2:172963400-172964200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr2:172963400-172964200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr2:172963400-172964200	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
33	chr2:172963400-172964200	Bivalent Enhancer	Spleen	Spleen
34	chr2:172963400-172964200	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
35	chr2:172963400-172964400	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr2:172963400-172964400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr2:172963400-172964400	Active TSS	Brain Germinal Matrix	brain
38	chr2:172963400-172964400	Enhancers	Pancreas	Pancrea
39	chr2:172963400-172964400	Flanking Active TSS	NH-A	brain
40	chr2:172963400-172964400	Flanking Active TSS	NHLF	lung
41	chr2:172963400-172965000	Active TSS	Right Ventricle	heart
42	chr2:172963400-172965800	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr2:172963400-172967200	Bivalent Enhancer	Fetal Lung	lung
44	chr2:172963600-172964000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
45	chr2:172963600-172964000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr2:172963600-172964000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr2:172963600-172964000	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain
48	chr2:172963600-172964000	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
49	chr2:172963600-172964000	Flanking Active TSS	Gastric	stomach
50	chr2:172963600-172964000	Flanking Bivalent TSS/Enh	Ovary	ovary

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