Variant report

Variant	rs13418434
Chromosome Location	chr2:190627736-190627737
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	POLR2A	chr2:190627107-190627982	Gliobla	brain:	n/a	n/a
2	MAX	chr2:190626929-190628143	HepG2	liver:	n/a	chr2:190627291-190627299 chr2:190627287-190627298 chr2:190627288-190627297
3	POLR2A	chr2:190627030-190628574	GM18505	blood:	n/a	n/a
4	EP300	chr2:190627383-190628167	A549	lung:	n/a	chr2:190627927-190627936 chr2:190627927-190627943 chr2:190627508-190627515
5	CTCF	chr2:190627210-190628039	K562	blood:	n/a	chr2:190627929-190627942
6	POLR2A	chr2:190627075-190628212	U87	brain:	n/a	n/a
7	TBP	chr2:190626852-190628126	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr2:190627082-190627790	K562	blood:	n/a	n/a
9	POLR2A	chr2:190626921-190628182	GM12892	blood:	n/a	n/a
10	POLR2A	chr2:190627046-190628035	H1-hESC	embryonic stem cell:	n/a	n/a
11	USF2	chr2:190627021-190627989	Hela-S3	cervix:	n/a	chr2:190627287-190627298
12	PML	chr2:190627216-190628062	GM12878	blood:	n/a	n/a
13	POLR2A	chr2:190626954-190628088	GM12891	blood:	n/a	n/a
14	POLR2A	chr2:190627041-190628230	SK-N-MC	brain:	n/a	n/a
15	CEBPB	chr2:190626968-190628122	GM12878	blood:	n/a	chr2:190626995-190627003 chr2:190627942-190627954
16	EP300	chr2:190627321-190628022	GM12878	blood:	n/a	chr2:190627927-190627936 chr2:190627927-190627943 chr2:190627508-190627515
17	MAX	chr2:190626801-190628247	A549	lung:	n/a	chr2:190627291-190627299 chr2:190627287-190627298 chr2:190627288-190627297
18	RAD21	chr2:190627247-190628013	H1-hESC	embryonic stem cell:	n/a	chr2:190627493-190627507
19	YY1	chr2:190627226-190627739	SK-N-SH_RA	brain:	n/a	n/a
20	MBD4	chr2:190626822-190628164	HepG2	liver:	n/a	n/a
21	POLR2A	chr2:190627037-190628176	HCT-116	colon:	n/a	n/a
22	TBP	chr2:190627117-190628221	GM12878	blood:	n/a	n/a
23	TEAD4	chr2:190626742-190628490	HepG2	liver:	n/a	n/a
24	MYC	chr2:190626945-190628078	K562	blood:	n/a	chr2:190627291-190627299 chr2:190627287-190627298 chr2:190627288-190627297
25	RUNX3	chr2:190627091-190628380	GM12878	blood:	n/a	n/a
26	HEY1	chr2:190627177-190627749	K562	blood:	n/a	n/a
27	ZNF143	chr2:190627267-190628108	K562	blood:	n/a	n/a
28	SIX5	chr2:190626896-190628257	A549	lung:	n/a	n/a
29	CEBPB	chr2:190627323-190628072	HepG2	liver:	n/a	chr2:190627942-190627954
30	MYC	chr2:190627271-190627742	K562	blood:	n/a	chr2:190627291-190627299 chr2:190627287-190627298 chr2:190627288-190627297
31	POLR2A	chr2:190626962-190628252	HepG2	liver:	n/a	n/a
32	ATF3	chr2:190627228-190628000	A549	lung:	n/a	n/a
33	REST	chr2:190627227-190627779	A549	lung:	n/a	chr2:190627525-190627545
34	USF1	chr2:190627020-190627850	SK-N-SH	brain:	n/a	chr2:190627287-190627298
35	MAFK	chr2:190627653-190627921	K562	blood:	n/a	n/a
36	POLR2A	chr2:190627084-190627829	A549	lung:	n/a	n/a
37	SP1	chr2:190627056-190628194	A549	lung:	n/a	chr2:190628010-190628017
38	POLR2A	chr2:190626928-190628453	SK-N-SH	brain:	n/a	n/a
39	CREB1	chr2:190627057-190628130	GM12878	blood:	n/a	chr2:190627512-190627525
40	SIN3AK20	chr2:190626958-190628086	MCF-7	breast:	n/a	n/a
41	NR2F2	chr2:190627159-190628030	K562	blood:	n/a	n/a
42	POLR2A	chr2:190627110-190628170	HUVEC	blood vessel:	n/a	n/a
43	HDAC2	chr2:190627175-190627739	MCF-7	breast:	n/a	chr2:190627525-190627544
44	CEBPB	chr2:190627213-190628015	H1-hESC	embryonic stem cell:	n/a	chr2:190627942-190627954
45	POLR2A	chr2:190626950-190627833	HL-60	blood:	n/a	n/a
46	REST	chr2:190626996-190628128	HL-60	blood:	n/a	chr2:190627525-190627545
47	TCF12	chr2:190626954-190627930	ECC-1	luminal epithelium:	n/a	n/a
48	JUND	chr2:190627112-190628114	K562	blood:	n/a	chr2:190627514-190627523 chr2:190627223-190627237
49	CHD1	chr2:190627218-190628036	H1-hESC	embryonic stem cell:	n/a	n/a
50	GTF2F1	chr2:190627073-190627995	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:190626375..190630628-chr2:190647839..190651386,6	MCF-7	breast:
2	chr2:190524928..190526526-chr2:190626361..190628930,2	MCF-7	breast:
3	chr2:190538834..190541562-chr2:190626367..190628350,2	MCF-7	breast:
4	chr2:190524327..190528986-chr2:190625993..190629803,6	K562	blood:
5	chr2:190624834..190631096-chr2:190647637..190651740,7	K562	blood:
6	chr2:190525941..190528751-chr2:190627393..190630465,6	K562	blood:
7	chr2:190626523..190630050-chr2:190647058..190650887,5	MCF-7	breast:
8	chr2:190624834..190630334-chr2:190647529..190650706,8	K562	blood:
9	chr2:190625358..190627993-chr2:190641227..190644183,3	K562	blood:

Variant related genes	Relation type
OSGEPL1	TF binding region
ENSG00000138381	Chromatin interaction
ENSG00000151687	Chromatin interaction
ENSG00000128699	Chromatin interaction
ENSG00000064933	Chromatin interaction
ENSG00000231145	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10176506	1.00[AMR][1000 genomes]
rs10197551	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10197577	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10209952	0.83[AFR][1000 genomes]
rs10497706	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13390239	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13400261	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13404356	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13411095	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13416709	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13418043	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13418158	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13429804	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16831975	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2118453	0.92[AFR][1000 genomes]
rs5742923	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs5742932	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs5742935	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs5742944	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs5742979	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs5743009	0.81[AFR][1000 genomes]
rs5743026	0.81[AFR][1000 genomes]
rs5743042	0.81[AFR][1000 genomes]
rs5743064	0.81[AFR][1000 genomes]
rs57785091	0.92[AFR][1000 genomes]
rs6711817	0.92[AFR][1000 genomes]
rs6746951	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6760126	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73048418	0.92[AFR][1000 genomes]
rs73048420	0.92[AFR][1000 genomes]
rs73048432	0.92[AFR][1000 genomes]
rs73048437	0.92[AFR][1000 genomes]
rs73048445	0.95[AFR][1000 genomes]
rs73049960	0.91[AFR][1000 genomes]
rs73050376	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7560735	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7577159	0.89[AFR][1000 genomes]
rs7583918	1.00[AMR][1000 genomes]

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190626000-190628600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr2:190626200-190628400	Active TSS	HMEC	breast
3	chr2:190626200-190628600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr2:190626400-190628400	Active TSS	A549	lung
5	chr2:190626400-190628600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:190626400-190628600	Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr2:190626400-190628800	Active TSS	HUES48 Cell Line	embryonic stem cell
8	chr2:190626600-190628200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr2:190626600-190628400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
10	chr2:190626600-190628400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr2:190626600-190628400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr2:190626600-190628400	Active TSS	K562	blood
13	chr2:190626600-190628600	Active TSS	H1 Cell Line	embryonic stem cell
14	chr2:190626600-190628600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr2:190626600-190628600	Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr2:190626600-190628600	Active TSS	iPS-15b Cell Line	embryonic stem cell
17	chr2:190626600-190628600	Active TSS	Rectal Mucosa Donor 29	rectum
18	chr2:190626600-190628800	Active TSS	HUES64 Cell Line	embryonic stem cell
19	chr2:190626800-190627800	ZNF genes & repeats	Fetal Brain Male	brain
20	chr2:190626800-190628200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr2:190626800-190628200	Active TSS	H9 Cell Line	embryonic stem cell
22	chr2:190626800-190628200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr2:190626800-190628200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr2:190626800-190628200	Active TSS	Colonic Mucosa	Colon
25	chr2:190626800-190628200	Active TSS	Fetal Intestine Small	intestine
26	chr2:190626800-190628200	Active TSS	Right Ventricle	heart
27	chr2:190626800-190628200	Active TSS	Sigmoid Colon	Sigmoid Colon
28	chr2:190626800-190628200	Active TSS	Stomach Mucosa	stomach
29	chr2:190626800-190628200	Active TSS	HSMM	muscle
30	chr2:190626800-190628400	Active TSS	ES-I3 Cell Line	embryonic stem cell
31	chr2:190626800-190628400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
32	chr2:190626800-190628400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr2:190626800-190628400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr2:190626800-190628400	Active TSS	Brain Cingulate Gyrus	brain
35	chr2:190626800-190628400	Active TSS	Fetal Muscle Trunk	muscle
36	chr2:190626800-190628400	Active TSS	Fetal Muscle Leg	muscle
37	chr2:190626800-190628400	Active TSS	Fetal Thymus	thymus
38	chr2:190626800-190628400	Active TSS	Thymus	Thymus
39	chr2:190626800-190628400	Active TSS	GM12878-XiMat	blood
40	chr2:190626800-190628400	Active TSS	HSMMtube	muscle
41	chr2:190626800-190628400	Active TSS	NHDF-Ad	bronchial
42	chr2:190626800-190628400	Active TSS	NHEK	skin
43	chr2:190626800-190628600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr2:190626800-190628600	Active TSS	iPS-18 Cell Line	embryonic stem cell
45	chr2:190626800-190628600	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
46	chr2:190626800-190628600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr2:190626800-190628600	Active TSS	Fetal Lung	lung
48	chr2:190626800-190628600	Active TSS	Psoas Muscle	Psoas
49	chr2:190626800-190628600	Active TSS	Right Atrium	heart
50	chr2:190626800-190628600	Active TSS	Stomach Smooth Muscle	stomach

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