Variant report

Variant	rs3816527
Chromosome Location	chr3:157155314-157155315
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	E2F6	chr3:157155118-157156183	A549	lung:	n/a	chr3:157156150-157156157 chr3:157155908-157155917 chr3:157156150-157156157 chr3:157155909-157155916 chr3:157156150-157156157 chr3:157155909-157155916 chr3:157155909-157155916 chr3:157155906-157155920 chr3:157155905-157155917
2	MAX	chr3:157155087-157156173	ECC-1	luminal epithelium:	n/a	n/a
3	RCOR1	chr3:157154051-157156393	IMR90	lung:	n/a	n/a
4	CREB1	chr3:157155204-157155949	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr3:157155037-157156147	H1-neurons	neurons:	n/a	n/a
6	POLR2A	chr3:157155055-157156520	HUVEC	blood vessel:	n/a	n/a
7	POLR2A	chr3:157154220-157161217	HUVEC	blood vessel:	n/a	n/a
8	E2F6	chr3:157155193-157155826	A549	lung:	n/a	n/a
9	MYC	chr3:157155076-157155977	MCF10A-Er-Src	breast:	n/a	n/a
10	MXI1	chr3:157154085-157156888	IMR90	lung:	n/a	n/a
11	POLR2A	chr3:157155266-157155341	A549	lung:	n/a	n/a
12	MAX	chr3:157155076-157155955	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr3:157155164-157156097	H1-hESC	embryonic stem cell:	n/a	n/a
14	REST	chr3:157154329-157156447	H1-neurons	neurons:	n/a	chr3:157155725-157155738 chr3:157156301-157156311 chr3:157156195-157156215
15	POLR2A	chr3:157154436-157156114	H1-neurons	neurons:	n/a	n/a
16	POLR2A	chr3:157154231-157157688	HUVEC	blood vessel:	n/a	n/a
17	MAX	chr3:157155152-157155891	A549	lung:	n/a	n/a
18	TAF1	chr3:157155142-157156075	H1-hESC	embryonic stem cell:	n/a	n/a
19	E2F6	chr3:157155225-157156113	K562	blood:	n/a	chr3:157155908-157155917 chr3:157155909-157155916 chr3:157155909-157155916 chr3:157155909-157155916 chr3:157155906-157155920 chr3:157155905-157155917
20	MAX	chr3:157155117-157156106	H1-hESC	embryonic stem cell:	n/a	n/a
21	HA-E2F1	chr3:157155169-157156222	MCF-7	breast:	n/a	chr3:157156150-157156157 chr3:157155908-157155917 chr3:157156150-157156157 chr3:157155909-157155916 chr3:157156150-157156157 chr3:157155909-157155916 chr3:157155909-157155916 chr3:157155906-157155920 chr3:157155905-157155917
22	MAX	chr3:157155193-157155908	HepG2	liver:	n/a	n/a
23	POLR2A	chr3:157155211-157155508	MCF-7	breast:	n/a	n/a
24	GTF2F1	chr3:157155195-157155844	H1-hESC	embryonic stem cell:	n/a	n/a
25	TAF1	chr3:157155238-157155922	H1-neurons	neurons:	n/a	n/a
26	MAX	chr3:157155024-157156163	A549	lung:	n/a	n/a
27	TAF1	chr3:157155042-157156132	H1-neurons	neurons:	n/a	n/a
28	MAX	chr3:157155029-157156106	SK-N-SH	brain:	n/a	n/a
29	TAF1	chr3:157155156-157155960	ECC-1	luminal epithelium:	n/a	n/a
30	MAX	chr3:157155079-157156078	H1-hESC	embryonic stem cell:	n/a	n/a
31	MAX	chr3:157155242-157155561	A549	lung:	n/a	n/a
32	POLR2A	chr3:157154415-157156673	SK-N-SH	brain:	n/a	n/a
33	JUND	chr3:157155239-157156044	H1-hESC	embryonic stem cell:	n/a	n/a
34	RAD21	chr3:157154178-157155547	IMR90	lung:	n/a	n/a
35	POLR2A	chr3:157155171-157155930	H1-hESC	embryonic stem cell:	n/a	n/a
36	FOXP2	chr3:157155267-157155893	PFSK-1	brain:	n/a	n/a
37	POLR2A	chr3:157154494-157156099	ProgFib	skin:	n/a	n/a
38	MYC	chr3:157155243-157155765	MCF-7	breast:	n/a	n/a
39	TEAD4	chr3:157155009-157155421	H1-hESC	embryonic stem cell:	n/a	n/a
40	POLR2A	chr3:157155113-157156462	H1-hESC	embryonic stem cell:	n/a	n/a
41	MAX	chr3:157155219-157155980	K562	blood:	n/a	n/a
42	POLR2A	chr3:157155258-157155592	U87	brain:	n/a	n/a
43	HMGN3	chr3:157155205-157155978	K562	blood:	n/a	n/a
44	ZNF263	chr3:157155171-157156177	HEK293-T-REx	kidney:	n/a	n/a
45	MAX	chr3:157155294-157155598	K562	blood:	n/a	n/a
46	POLR2A	chr3:157155265-157155826	H1-hESC	embryonic stem cell:	n/a	n/a
47	REST	chr3:157155306-157156073	HL-60	blood:	n/a	chr3:157155725-157155738
48	POLR2A	chr3:157155138-157155930	HL-60	blood:	n/a	n/a
49	MAX	chr3:157155189-157155973	NB4	blood:	n/a	n/a
50	SIN3A	chr3:157154592-157156321	H1-hESC	embryonic stem cell:	n/a	chr3:157156200-157156211

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:157150749..157153721-chr3:157154855..157157411,2	K562	blood:

Variant related genes	Relation type
VEPH1	TF binding region

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs1027603	0.81[JPT][hapmap]
rs10936086	0.91[JPT][hapmap]
rs10936087	0.90[JPT][hapmap]
rs12486427	0.91[JPT][hapmap]
rs12496879	0.82[JPT][hapmap]
rs12638732	0.91[JPT][hapmap]
rs1456097	0.91[JPT][hapmap]
rs1456108	0.84[CHB][hapmap]
rs1500920	0.81[JPT][hapmap]
rs1545596	0.83[CHB][hapmap]
rs1546261	0.81[JPT][hapmap]
rs1563420	0.84[CHB][hapmap]
rs1568609	0.81[JPT][hapmap]
rs1585080	0.91[JPT][hapmap]
rs1840668	0.91[JPT][hapmap]
rs1840673	0.84[CHB][hapmap]
rs1840680	0.95[YRI][hapmap];0.89[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs1869859	0.83[CHB][hapmap]
rs1965246	0.88[CHB][hapmap]
rs2124497	0.84[CHB][hapmap]
rs2168430	0.83[CHB][hapmap]
rs2168431	0.84[CHB][hapmap]
rs2305619	0.82[AMR][1000 genomes]
rs2316706	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs2316708	0.89[AMR][1000 genomes]
rs2316709	0.89[AMR][1000 genomes]
rs2316710	0.89[AMR][1000 genomes]
rs3816528	0.90[JPT][hapmap]
rs4640512	0.90[JPT][hapmap]
rs4680360	0.90[JPT][hapmap]
rs4680364	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4680367	1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6441126	0.91[JPT][hapmap]
rs6441128	0.91[JPT][hapmap]
rs6441129	0.90[JPT][hapmap]
rs6803043	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6803236	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6803628	0.91[JPT][hapmap]
rs7609926	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs7615621	0.88[YRI][hapmap];0.85[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs7616177	0.89[AMR][1000 genomes]
rs7617727	0.90[JPT][hapmap]
rs7623173	0.84[CHB][hapmap]
rs7626884	1.00[JPT][hapmap];0.95[YRI][hapmap];0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7631556	0.82[JPT][hapmap]
rs7634847	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7639254	0.90[JPT][hapmap]
rs9857875	0.82[JPT][hapmap]
rs9868133	0.89[AMR][1000 genomes]
rs9871290	0.90[JPT][hapmap]
rs988587	0.81[JPT][hapmap]
rs988588	0.81[JPT][hapmap]
rs9990136	0.81[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757900	chr3:157090166-157254684	Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	esv2759193	chr3:157090166-157254684	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised 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 target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:157154000-157155400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
2	chr3:157154000-157158000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr3:157154200-157155400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
4	chr3:157154200-157155400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr3:157154200-157155400	Flanking Active TSS	NH-A	brain
6	chr3:157154200-157155600	Active TSS	Fetal Brain Male	brain
7	chr3:157154200-157155800	Active TSS	Fetal Muscle Trunk	muscle
8	chr3:157154200-157156000	Active TSS	Fetal Stomach	stomach
9	chr3:157154200-157156000	Active TSS	NHDF-Ad	bronchial
10	chr3:157154200-157156200	Active TSS	Brain Germinal Matrix	brain
11	chr3:157154200-157156400	Active TSS	Breast Myoepithelial Primary Cells	Breast
12	chr3:157154200-157156400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
13	chr3:157154200-157156400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr3:157154200-157156400	Active TSS	Fetal Lung	lung
15	chr3:157154200-157156600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr3:157154200-157156600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr3:157154200-157157200	Active TSS	HSMM	muscle
18	chr3:157154200-157157400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
19	chr3:157154200-157157800	Active TSS	HSMMtube	muscle
20	chr3:157154400-157155400	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
21	chr3:157154400-157155400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr3:157154400-157155800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr3:157154400-157155800	Active TSS	Muscle Satellite Cultured Cells	--
24	chr3:157154400-157156000	Active TSS	Brain Anterior Caudate	brain
25	chr3:157154400-157156000	Active TSS	Brain Cingulate Gyrus	brain
26	chr3:157154400-157156000	Active TSS	Brain Hippocampus Middle	brain
27	chr3:157154400-157156000	Bivalent/Poised TSS	Fetal Intestine Small	intestine
28	chr3:157154400-157156200	Active TSS	Fetal Brain Female	brain
29	chr3:157154400-157156400	Flanking Active TSS	Adipose Nuclei	Adipose
30	chr3:157154400-157156400	Active TSS	Rectal Mucosa Donor 29	rectum
31	chr3:157154400-157156600	Active TSS	Fetal Kidney	kidney
32	chr3:157154400-157157000	Active TSS	Duodenum Smooth Muscle	Duodenum
33	chr3:157154600-157155400	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
34	chr3:157154600-157155400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
35	chr3:157154600-157155400	Active TSS	Lung	lung
36	chr3:157154600-157155400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
37	chr3:157154600-157155600	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
38	chr3:157154600-157155800	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
39	chr3:157154600-157156000	Active TSS	Brain Substantia Nigra	brain
40	chr3:157154600-157156000	Active TSS	Skeletal Muscle Male	skeletal muscle
41	chr3:157154600-157156200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr3:157154600-157156200	Active TSS	HUVEC	blood vessel
43	chr3:157154600-157156400	Active TSS	Fetal Heart	heart
44	chr3:157154600-157156400	Active TSS	Left Ventricle	heart
45	chr3:157154600-157156600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr3:157154600-157156600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr3:157154600-157156600	Active TSS	Colon Smooth Muscle	Colon
48	chr3:157154600-157156600	Active TSS	Pancreatic Islets	Pancreatic Islet
49	chr3:157154600-157156600	Active TSS	Psoas Muscle	Psoas
50	chr3:157154600-157156800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain

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