Variant report

Variant	rs28384497
Chromosome Location	chr2:183580818-183580819
allele	C/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	HA-E2F1	chr2:183580358-183581877	MCF-7	breast:	n/a	chr2:183580755-183580765 chr2:183580744-183580753 chr2:183580573-183580580 chr2:183580778-183580787 chr2:183580973-183580983
2	POLR2A	chr2:183580575-183581245	HepG2	liver:	n/a	n/a
3	E2F6	chr2:183580604-183581250	K562	blood:	n/a	chr2:183580755-183580765 chr2:183580744-183580753 chr2:183580778-183580787 chr2:183580973-183580983
4	MYC	chr2:183580645-183581338	MCF-7	breast:	n/a	n/a
5	POLR2A	chr2:183580374-183581648	K562	blood:	n/a	n/a
6	POLR2A	chr2:183580571-183581577	HEK293	kidney:	n/a	n/a
7	E2F6	chr2:183580682-183581163	K562	blood:	n/a	chr2:183580755-183580765 chr2:183580744-183580753 chr2:183580778-183580787 chr2:183580973-183580983
8	MAZ	chr2:183580440-183581591	K562	blood:	n/a	n/a
9	MAX	chr2:183580495-183581691	K562	blood:	n/a	n/a
10	TAF1	chr2:183580616-183581428	H1-hESC	embryonic stem cell:	n/a	n/a
11	MAX	chr2:183580436-183581398	A549	lung:	n/a	n/a
12	CEBPD	chr2:183580544-183581128	K562	blood:	n/a	n/a
13	POLR2A	chr2:183580389-183581328	PANC-1	pancreas:	n/a	n/a
14	GTF2F1	chr2:183580461-183581154	Hela-S3	cervix:	n/a	n/a
15	BACH1	chr2:183580525-183581202	H1-hESC	embryonic stem cell:	n/a	n/a
16	CTCF	chr2:183580781-183580931	K562	blood:	n/a	n/a
17	POLR2A	chr2:183580315-183581707	HUVEC	blood vessel:	n/a	n/a
18	YY1	chr2:183580565-183581425	K562	blood:	n/a	chr2:183580778-183580792 chr2:183580752-183580766 chr2:183580901-183580915
19	CTCF	chr2:183580760-183580910	NHEK	skin:	n/a	n/a
20	POLR2A	chr2:183580536-183581312	GM12891	blood:	n/a	n/a
21	MYC	chr2:183580530-183581508	NB4	blood:	n/a	n/a
22	POLR2A	chr2:183580443-183581403	Gliobla	brain:	n/a	n/a
23	REST	chr2:183580796-183581240	A549	lung:	n/a	chr2:183580911-183580924
24	MAX	chr2:183580433-183581781	ECC-1	luminal epithelium:	n/a	n/a
25	ZBTB7A	chr2:183580629-183581364	ECC-1	luminal epithelium:	n/a	chr2:183580777-183580786 chr2:183580904-183580913
26	POLR2A	chr2:183580361-183581288	HepG2	liver:	n/a	n/a
27	SP1	chr2:183580365-183581270	A549	lung:	n/a	chr2:183580976-183580988 chr2:183580978-183580987 chr2:183580977-183580986 chr2:183580977-183580986 chr2:183580976-183580988
28	POLR2A	chr2:183580408-183581315	HUVEC	blood vessel:	n/a	n/a
29	TAF1	chr2:183580509-183581257	K562	blood:	n/a	n/a
30	FOS	chr2:183580816-183581010	MCF10A-Er-Src	breast:	n/a	n/a
31	MAX	chr2:183580459-183581442	HepG2	liver:	n/a	n/a
32	SPI1	chr2:183579899-183581254	HL-60	blood:	n/a	chr2:183580559-183580572 chr2:183580709-183580722 chr2:183580103-183580116 chr2:183580105-183580112 chr2:183580102-183580115 chr2:183580104-183580113
33	POLR2A	chr2:183580367-183581677	GM19193	blood:	n/a	n/a
34	TAF1	chr2:183580453-183581666	H1-hESC	embryonic stem cell:	n/a	n/a
35	YY1	chr2:183580507-183581254	GM12892	blood:	n/a	chr2:183580778-183580792 chr2:183580752-183580766 chr2:183580901-183580915
36	POLR2A	chr2:183579880-183581602	K562	blood:	n/a	n/a
37	POLR2A	chr2:183580641-183581298	A549	lung:	n/a	n/a
38	MAX	chr2:183580481-183581428	MCF-7	breast:	n/a	n/a
39	CHD2	chr2:183580455-183581558	HepG2	liver:	n/a	chr2:183580742-183580752
40	POLR2A	chr2:183580210-183581867	H1-hESC	embryonic stem cell:	n/a	n/a
41	CCNT2	chr2:183580601-183581535	K562	blood:	n/a	n/a
42	POLR2A	chr2:183580346-183581278	SK-N-SH	brain:	n/a	n/a
43	CHD2	chr2:183580522-183581137	H1-hESC	embryonic stem cell:	n/a	chr2:183580742-183580752
44	TCF12	chr2:183580481-183581371	ECC-1	luminal epithelium:	n/a	n/a
45	CBX3	chr2:183580321-183581659	K562	blood:	n/a	n/a
46	MAX	chr2:183580324-183581765	A549	lung:	n/a	n/a
47	EGR1	chr2:183580556-183581151	H1-hESC	embryonic stem cell:	n/a	chr2:183580773-183580786 chr2:183580773-183580786 chr2:183580769-183580791 chr2:183580772-183580787
48	POLR2A	chr2:183580447-183581603	H1-hESC	embryonic stem cell:	n/a	n/a
49	POLR2A	chr2:183580502-183581609	GM12878	blood:	n/a	n/a
50	TAF1	chr2:183580479-183581209	GM12878	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:183580818-183580868	PANC-1	pancreas:	n/a
2	chr2:183580818-183580868	A549	lung:	n/a
3	chr2:183580818-183580868	SK-N-SH	brain:	n/a
4	chr2:183580818-183580868	HMEC	breast:	n/a
5	chr2:183580818-183580868	NH-A	brain:	n/a
6	chr2:183580818-183580868	NHBE	bronchial:	n/a
7	chr2:183580818-183580868	HRPEpiC	eye:	n/a
8	chr2:183580818-183580868	AG09319	gingival:	n/a
9	chr2:183580818-183580868	PFSK-1	brain:	n/a
10	chr2:183580818-183580868	PrEC	prostate:	n/a
11	chr2:183580818-183580868	ovcar-3	ovarian:	n/a
12	chr2:183580818-183580868	HNPCEpiC	eye:	n/a
13	chr2:183580818-183580868	CMK	blood:	n/a
14	chr2:183580818-183580868	U87	brain:	n/a
15	chr2:183580818-183580868	HRCEpiC	kidney:	n/a
16	chr2:183580818-183580868	HCF	heart:	n/a
17	chr2:183580818-183580868	LNCaP	prostate:	n/a
18	chr2:183580818-183580868	RPTEC	kidney:	n/a
19	chr2:183580818-183580868	Hepatocyte	liver:	n/a
20	chr2:183580818-183580868	HUVEC	blood vessel:	n/a
21	chr2:183580818-183580868	AoSMC	blood vessel:	n/a
22	chr2:183580818-183580868	Jurkat	blood:	n/a
23	chr2:183580818-183580868	H1-hESC	embryonic stem cell:	embryo
24	chr2:183580818-183580868	HAEpiC	amniotic membrane:	n/a
25	chr2:183580818-183580868	IMR90	lung:	fetal
26	chr2:183580818-183580868	HCT-116	colon:	n/a
27	chr2:183580818-183580868	HRE	kidney:	n/a
28	chr2:183580818-183580868	SK-N-MC	brain:	n/a
29	chr2:183580818-183580868	HEK293	kidney:	embryo
30	chr2:183580818-183580868	NB4	blood:	n/a
31	chr2:183580818-183580868	HPAEpiC	pulmonary alveolar:	n/a
32	chr2:183580818-183580868	SAEC	small airway:	n/a
33	chr2:183580818-183580868	Caco-2	colon:	n/a
34	chr2:183580818-183580868	MCF10A-Er-Src	breast:	n/a
35	chr2:183580818-183580868	GM06990	blood:	n/a
36	chr2:183580818-183580868	AG09309	skin:	n/a
37	chr2:183580818-183580868	AG10803	skin:	n/a
38	chr2:183580818-183580868	HCPEpiC	choroid plexus:	n/a
39	chr2:183580818-183580868	HCM	heart:	n/a
40	chr2:183580818-183580868	GM12891	blood:	n/a
41	chr2:183580818-183580868	NT2-D1	testis:	n/a
42	chr2:183580818-183580868	GM19239	blood:	n/a
43	chr2:183580818-183580868	BJ	skin:	n/a
44	chr2:183580818-183580868	HL-60	blood:	n/a
45	chr2:183580818-183580868	T-47D	breast:	n/a
46	chr2:183580818-183580868	HEEpiC	esophagus:	n/a
47	chr2:183580818-183580868	NHDF-neo	bronchial:	n/a
48	chr2:183580818-183580868	ProgFib	skin:	n/a
49	chr2:183580818-183580868	SK-N-SH_RA	brain:	n/a
50	chr2:183580818-183580868	BE2_C	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:183580784..183581354-chr7:35840335..35841333,2	Hela-S3	cervix:
2	chr2:182755591..182758830-chr2:183579706..183582403,3	K562	blood:
3	chr2:182756746..182758830-chr2:183579706..183581743,2	K562	blood:
4	chr2:183580393..183581010-chr7:23144811..23145657,2	Hela-S3	cervix:
5	chr19:47614665..47616631-chr2:183580076..183582029,2	MCF-7	breast:
6	chr2:183580425..183582799-chr2:183903051..183904778,2	MCF-7	breast:
7	chr17:57914325..57916942-chr2:183579945..183582060,2	MCF-7	breast:
8	chr2:183580551..183581074-chr7:100025798..100026773,2	Hela-S3	cervix:
9	chr2:183580461..183581050-chr9:132388456..132389164,2	Hela-S3	cervix:

Variant related genes	Relation type
DNAJC10	TF binding region
DNAJC10	CpG island
ENSG00000260742	Chromatin interaction
ENSG00000061676	Chromatin interaction
ENSG00000078487	Chromatin interaction
ENSG00000122545	Chromatin interaction
ENSG00000130749	Chromatin interaction
ENSG00000148335	Chromatin interaction
ENSG00000062716	Chromatin interaction
ENSG00000122550	Chromatin interaction
ENSG00000146834	Chromatin interaction
ENSG00000142230	Chromatin interaction
ENSG00000138434	Chromatin interaction
ENSG00000230658	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12616928	0.98[ASN][1000 genomes]
rs16823649	0.98[ASN][1000 genomes]
rs16823691	0.95[ASN][1000 genomes]
rs16823703	0.98[ASN][1000 genomes]
rs16823704	0.97[ASN][1000 genomes]
rs16823706	0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009882	chr2:183213152-184171519	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	esv2757842	chr2:183437700-183835084	Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	esv2759104	chr2:183437700-183835084	Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv875482	chr2:183508696-183582170	Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer 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	15 gene(s)	inside rSNPs	diseases
5	esv2756954	chr2:183528670-183764930	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv875483	chr2:183537399-183657867	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	esv34847	chr2:183537399-183786763	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
8	esv3693445	chr2:183542825-183725221	Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 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	chr2:183579600-183581800	Active TSS	Psoas Muscle	Psoas
2	chr2:183579800-183581400	Active TSS	Fetal Brain Male	brain
3	chr2:183579800-183581800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr2:183579800-183581800	Active TSS	Brain Inferior Temporal Lobe	brain
5	chr2:183579800-183582000	Active TSS	Stomach Smooth Muscle	stomach
6	chr2:183579800-183582200	Active TSS	Breast Myoepithelial Primary Cells	Breast
7	chr2:183579800-183582200	Flanking Active TSS	Primary hematopoietic stem cells	blood
8	chr2:183579800-183582200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
9	chr2:183579800-183582200	Active TSS	HMEC	breast
10	chr2:183580000-183581000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr2:183580000-183581000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr2:183580000-183581200	Active TSS	Primary T cells fromperipheralblood	blood
13	chr2:183580000-183581400	Active TSS	Rectal Mucosa Donor 29	rectum
14	chr2:183580000-183581600	Active TSS	Fetal Muscle Leg	muscle
15	chr2:183580000-183581800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr2:183580000-183581800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr2:183580000-183581800	Active TSS	Fetal Thymus	thymus
18	chr2:183580000-183581800	Active TSS	Ovary	ovary
19	chr2:183580000-183581800	Active TSS	Right Ventricle	heart
20	chr2:183580000-183582000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
21	chr2:183580000-183582000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr2:183580000-183582000	Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr2:183580000-183582000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr2:183580000-183582000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr2:183580000-183582000	Active TSS	Brain Cingulate Gyrus	brain
26	chr2:183580000-183582000	Active TSS	HSMMtube	muscle
27	chr2:183580000-183582200	Active TSS	ES-I3 Cell Line	embryonic stem cell
28	chr2:183580000-183582200	Active TSS	H1 Cell Line	embryonic stem cell
29	chr2:183580000-183582200	Active TSS	Stomach Mucosa	stomach
30	chr2:183580000-183582200	Active TSS	NHLF	lung
31	chr2:183580000-183582400	Active TSS	HUES6 Cell Line	embryonic stem cell
32	chr2:183580000-183582800	Active TSS	Fetal Intestine Large	intestine
33	chr2:183580200-183581200	Active TSS	Cortex derived primary cultured neurospheres	brain
34	chr2:183580200-183581200	Active TSS	Placenta	Placenta
35	chr2:183580200-183581200	Active TSS	Skeletal Muscle Female	skeletal muscle
36	chr2:183580200-183581400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr2:183580200-183581400	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
38	chr2:183580200-183581400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr2:183580200-183581400	Active TSS	Brain Anterior Caudate	brain
40	chr2:183580200-183581400	Active TSS	Fetal Heart	heart
41	chr2:183580200-183581800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr2:183580200-183581800	Active TSS	H9 Cell Line	embryonic stem cell
43	chr2:183580200-183581800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr2:183580200-183581800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr2:183580200-183581800	Active TSS	Muscle Satellite Cultured Cells	--
46	chr2:183580200-183581800	Active TSS	Colonic Mucosa	Colon
47	chr2:183580200-183581800	Active TSS	Colon Smooth Muscle	Colon
48	chr2:183580200-183581800	Active TSS	Pancreatic Islets	Pancreatic Islet
49	chr2:183580200-183581800	Active TSS	Fetal Muscle Trunk	muscle
50	chr2:183580200-183581800	Bivalent/Poised TSS	HepG2	liver

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