Variant report

Variant	rs28364597
Chromosome Location	chr1:226111926-226111927
allele	A/C
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	POLR2A	chr1:226111114-226112567	ECC-1	luminal epithelium:	n/a	n/a
2	YY1	chr1:226111224-226112637	K562	blood:	n/a	chr1:226112555-226112566
3	SP2	chr1:226111815-226112235	H1-hESC	embryonic stem cell:	n/a	chr1:226112014-226112029
4	POLR2A	chr1:226111240-226112533	NB4	blood:	n/a	n/a
5	GABPA	chr1:226111612-226112613	MCF-7	breast:	n/a	n/a
6	MAX	chr1:226111497-226112630	MCF-7	breast:	n/a	chr1:226111722-226111732 chr1:226112006-226112017 chr1:226112006-226112016 chr1:226112007-226112017 chr1:226112007-226112017 chr1:226112005-226112018 chr1:226112006-226112017 chr1:226112005-226112018 chr1:226112005-226112018 chr1:226112006-226112017 chr1:226112007-226112016 chr1:226112006-226112016
7	BACH1	chr1:226111677-226111947	H1-hESC	embryonic stem cell:	n/a	n/a
8	CEBPD	chr1:226111579-226112143	HepG2	liver:	n/a	chr1:226111947-226111958
9	RCOR1	chr1:226111678-226112166	HepG2	liver:	n/a	n/a
10	SP1	chr1:226111473-226112509	A549	lung:	n/a	chr1:226112015-226112024 chr1:226112014-226112026 chr1:226111723-226111737 chr1:226112015-226112024 chr1:226112031-226112052 chr1:226112016-226112025 chr1:226112014-226112026 chr1:226112015-226112029
11	CEBPB	chr1:226111736-226112143	IMR90	lung:	n/a	chr1:226111948-226111959
12	MYC	chr1:226111645-226112181	MCF-7	breast:	n/a	chr1:226111722-226111732 chr1:226112006-226112017 chr1:226112006-226112016 chr1:226112007-226112017 chr1:226112007-226112017 chr1:226112005-226112018 chr1:226112006-226112017 chr1:226112005-226112018 chr1:226112005-226112018 chr1:226112006-226112017 chr1:226112007-226112016 chr1:226112006-226112016
13	SIN3AK20	chr1:226111489-226112246	SK-N-SH	brain:	n/a	n/a
14	ETS1	chr1:226111610-226112411	K562	blood:	n/a	n/a
15	POLR2A	chr1:226110797-226112641	K562	blood:	n/a	n/a
16	GABPA	chr1:226111460-226112388	SK-N-SH	brain:	n/a	n/a
17	ELF1	chr1:226111742-226112319	SK-N-SH	brain:	n/a	chr1:226112139-226112148
18	FOS	chr1:226111837-226112123	MCF10A-Er-Src	breast:	n/a	n/a
19	ARID3A	chr1:226111775-226112126	HepG2	liver:	n/a	n/a
20	TAF1	chr1:226111414-226112389	ECC-1	luminal epithelium:	n/a	n/a
21	POLR2A	chr1:226111128-226112579	GM12878	blood:	n/a	n/a
22	TAF1	chr1:226111705-226112174	PFSK-1	brain:	n/a	n/a
23	SIN3AK20	chr1:226111595-226112185	PANC-1	pancreas:	n/a	n/a
24	CEBPB	chr1:226111689-226112052	MCF-7	breast:	n/a	chr1:226111948-226111959
25	YY1	chr1:226111872-226112036	HCT-116	colon:	n/a	n/a
26	EGR1	chr1:226111693-226111955	GM12878	blood:	n/a	n/a
27	EP300	chr1:226111669-226112211	A549	lung:	n/a	chr1:226112069-226112085
28	CEBPD	chr1:226111675-226112242	K562	blood:	n/a	chr1:226111947-226111958
29	POLR2A	chr1:226111184-226112591	GM18505	blood:	n/a	n/a
30	CEBPB	chr1:226111604-226112180	K562	blood:	n/a	chr1:226111948-226111959
31	TAF1	chr1:226111748-226112038	GM12878	blood:	n/a	n/a
32	REST	chr1:226111697-226112222	HepG2	liver:	n/a	n/a
33	MAX	chr1:226111263-226112649	ECC-1	luminal epithelium:	n/a	chr1:226111722-226111732 chr1:226112006-226112017 chr1:226112006-226112016 chr1:226112007-226112017 chr1:226112007-226112017 chr1:226112005-226112018 chr1:226112006-226112017 chr1:226112005-226112018 chr1:226112005-226112018 chr1:226112006-226112017 chr1:226112007-226112016 chr1:226112006-226112016
34	BHLHE40	chr1:226111068-226112514	K562	blood:	n/a	n/a
35	POLR2A	chr1:226111337-226112754	HL-60	blood:	n/a	n/a
36	NR2F2	chr1:226110409-226113287	K562	blood:	n/a	n/a
37	POLR2A	chr1:226111305-226112533	GM18951	blood:	n/a	n/a
38	MYC	chr1:226111763-226112163	MCF10A-Er-Src	breast:	n/a	chr1:226112006-226112017 chr1:226112006-226112016 chr1:226112007-226112017 chr1:226112007-226112017 chr1:226112005-226112018 chr1:226112006-226112017 chr1:226112005-226112018 chr1:226112005-226112018 chr1:226112006-226112017 chr1:226112007-226112016 chr1:226112006-226112016
39	RELA	chr1:226111702-226112431	GM18951	blood:	n/a	n/a
40	FOSL2	chr1:226111621-226112062	A549	lung:	n/a	n/a
41	STAT3	chr1:226111868-226112159	MCF10A-Er-Src	breast:	n/a	n/a
42	HEY1	chr1:226111652-226112034	HepG2	liver:	n/a	n/a
43	SIN3AK20	chr1:226111218-226112292	K562	blood:	n/a	n/a
44	IRF1	chr1:226111701-226112229	K562	blood:	n/a	chr1:226112012-226112026
45	TCF3	chr1:226111717-226112027	GM12878	blood:	n/a	n/a
46	CTCF	chr1:226111820-226111970	SK-N-SH_RA	brain:	n/a	n/a
47	BCLAF1	chr1:226111460-226112161	GM12878	blood:	n/a	n/a
48	YY1	chr1:226111646-226112188	H1-hESC	embryonic stem cell:	n/a	n/a
49	TAF1	chr1:226111778-226112076	A549	lung:	n/a	n/a
50	CEBPD	chr1:226111750-226112045	HepG2	liver:	n/a	chr1:226111947-226111958

No.	Distal block	Cell Line	Cell type
1	chr1:225964871..225966516-chr1:226110750..226112942,2	MCF-7	breast:
2	chr1:226108702..226117785-chr1:226183554..226190529,14	K562	blood:
3	chr1:226110464..226115809-chr1:226185735..226190763,7	K562	blood:
4	chr1:226111283..226112258-chr19:41945016..41945997,2	Hela-S3	cervix:
5	chr1:226111626..226112491-chrX:108780167..108780840,2	NB4	blood:
6	chr1:226111849..226112644-chrX:117861485..117862049,2	HCT-116	colon:
7	chr1:226111842..226114398-chr1:228644051..228646541,2	K562	blood:
8	chr1:226066440..226072029-chr1:226106315..226113044,10	MCF-7	breast:
9	chr1:226110432..226113669-chr17:59475384..59478027,3	MCF-7	breast:
10	chr1:226067470..226074101-chr1:226108823..226116408,13	MCF-7	breast:
11	chr1:226063406..226070293-chr1:226107715..226112317,7	K562	blood:

Variant related genes	Relation type
PYCR2	TF binding region
ENSG00000181218	Chromatin interaction
ENSG00000196187	Chromatin interaction
ENSG00000267131	Chromatin interaction
ENSG00000267280	Chromatin interaction
ENSG00000143751	Chromatin interaction
ENSG00000105341	Chromatin interaction
ENSG00000101888	Chromatin interaction
ENSG00000196890	Chromatin interaction
ENSG00000121068	Chromatin interaction
ENSG00000131724	Chromatin interaction
ENSG00000143742	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10915902	0.88[ASN][1000 genomes]
rs10915903	0.88[ASN][1000 genomes]
rs2295419	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs3753673	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs3753675	0.86[ASN][1000 genomes]
rs3820237	0.96[ASN][1000 genomes]
rs6661737	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1834948	chr1:225874059-226214882	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv524126	chr1:225973777-226210653	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv873231	chr1:226019653-226134471	Enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	esv2762223	chr1:226025175-226201716	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	esv3335650	chr1:226074720-226125458	Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh 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	19 gene(s)	inside rSNPs	diseases
6	esv3369235	chr1:226075748-226127738	Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv468216	chr1:226078915-226135132	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
8	nsv549267	chr1:226078915-226135132	Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
9	nsv535314	chr1:226087226-226128261	Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 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	chr1:226110600-226112400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr1:226110800-226112400	Active TSS	HUES48 Cell Line	embryonic stem cell
3	chr1:226110800-226112400	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr1:226110800-226112400	Active TSS	NHDF-Ad	bronchial
5	chr1:226110800-226112600	Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr1:226110800-226112600	Active TSS	iPS-18 Cell Line	embryonic stem cell
7	chr1:226110800-226112600	Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr1:226110800-226112600	Active TSS	A549	lung
9	chr1:226110800-226112600	Active TSS	NHLF	lung
10	chr1:226110800-226112800	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr1:226110800-226112800	Active TSS	HSMM	muscle
12	chr1:226111000-226112000	Flanking Active TSS	Primary hematopoietic stem cells	blood
13	chr1:226111000-226112000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
14	chr1:226111000-226112000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
15	chr1:226111000-226112000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
16	chr1:226111000-226112400	Active TSS	H1 Cell Line	embryonic stem cell
17	chr1:226111000-226112400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr1:226111000-226112400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr1:226111000-226112600	Active TSS	iPS-15b Cell Line	embryonic stem cell
20	chr1:226111000-226112600	Active TSS	Pancreatic Islets	Pancreatic Islet
21	chr1:226111000-226112600	Active TSS	Placenta Amnion	Placenta Amnion
22	chr1:226111000-226112600	Active TSS	HSMMtube	muscle
23	chr1:226111000-226112800	Active TSS	Hela-S3	cervix
24	chr1:226111000-226113000	Active TSS	H9 Cell Line	embryonic stem cell
25	chr1:226111200-226112000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr1:226111200-226112200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr1:226111200-226112400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr1:226111200-226112400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr1:226111200-226112400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr1:226111200-226112400	Active TSS	Primary T helper cells PMA-I stimulated	--
31	chr1:226111200-226112400	Active TSS	K562	blood
32	chr1:226111200-226112400	Active TSS	Osteobl	bone
33	chr1:226111200-226112600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
34	chr1:226111200-226112600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr1:226111200-226112600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
36	chr1:226111200-226112600	Active TSS	Aorta	Aorta
37	chr1:226111200-226112600	Active TSS	Fetal Kidney	kidney
38	chr1:226111200-226112600	Active TSS	Lung	lung
39	chr1:226111200-226112600	Active TSS	Psoas Muscle	Psoas
40	chr1:226111200-226112800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr1:226111200-226112800	Active TSS	Colon Smooth Muscle	Colon
42	chr1:226111200-226112800	Active TSS	Fetal Intestine Large	intestine
43	chr1:226111200-226112800	Active TSS	Small Intestine	intestine
44	chr1:226111200-226112800	Active TSS	GM12878-XiMat	blood
45	chr1:226111200-226113000	Active TSS	Duodenum Mucosa	Duodenum
46	chr1:226111200-226113000	Active TSS	NHEK	skin
47	chr1:226111400-226112000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr1:226111400-226112200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr1:226111400-226112200	Active TSS	Primary T cells from cord blood	blood
50	chr1:226111400-226112200	Active TSS	Primary T regulatory cells fromperipheralblood	blood

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