Variant report

Variant	rs73050376
Chromosome Location	chr2:190627048-190627049
allele	G/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	MAX	chr2:190626929-190628143	HepG2	liver:	n/a	chr2:190627291-190627299 chr2:190627287-190627298 chr2:190627288-190627297
2	POLR2A	chr2:190627030-190628574	GM18505	blood:	n/a	n/a
3	TBP	chr2:190626852-190628126	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr2:190626921-190628182	GM12892	blood:	n/a	n/a
5	USF1	chr2:190627022-190627525	A549	lung:	n/a	chr2:190627287-190627298
6	POLR2A	chr2:190627046-190628035	H1-hESC	embryonic stem cell:	n/a	n/a
7	USF2	chr2:190627021-190627989	Hela-S3	cervix:	n/a	chr2:190627287-190627298
8	POLR2A	chr2:190626954-190628088	GM12891	blood:	n/a	n/a
9	POLR2A	chr2:190627041-190628230	SK-N-MC	brain:	n/a	n/a
10	CEBPB	chr2:190626968-190628122	GM12878	blood:	n/a	chr2:190626995-190627003 chr2:190627942-190627954
11	MAX	chr2:190626801-190628247	A549	lung:	n/a	chr2:190627291-190627299 chr2:190627287-190627298 chr2:190627288-190627297
12	MBD4	chr2:190626822-190628164	HepG2	liver:	n/a	n/a
13	POLR2A	chr2:190627037-190628176	HCT-116	colon:	n/a	n/a
14	TEAD4	chr2:190626742-190628490	HepG2	liver:	n/a	n/a
15	MYC	chr2:190626945-190628078	K562	blood:	n/a	chr2:190627291-190627299 chr2:190627287-190627298 chr2:190627288-190627297
16	SIX5	chr2:190626896-190628257	A549	lung:	n/a	n/a
17	POLR2A	chr2:190626962-190628252	HepG2	liver:	n/a	n/a
18	USF1	chr2:190627020-190627850	SK-N-SH	brain:	n/a	chr2:190627287-190627298
19	POLR2A	chr2:190626928-190628453	SK-N-SH	brain:	n/a	n/a
20	SIN3AK20	chr2:190626958-190628086	MCF-7	breast:	n/a	n/a
21	SIN3AK20	chr2:190626981-190627688	HepG2	liver:	n/a	n/a
22	CTCF	chr2:190626980-190627130	AG10803	skin:	n/a	n/a
23	POLR2A	chr2:190626950-190627833	HL-60	blood:	n/a	n/a
24	REST	chr2:190626996-190628128	HL-60	blood:	n/a	chr2:190627525-190627545
25	TCF12	chr2:190626954-190627930	ECC-1	luminal epithelium:	n/a	n/a
26	POLR2A	chr2:190626861-190628079	HepG2	liver:	n/a	n/a
27	JUN	chr2:190627023-190628138	K562	blood:	n/a	chr2:190627514-190627523 chr2:190627223-190627237
28	BCLAF1	chr2:190626933-190628170	GM12878	blood:	n/a	chr2:190627507-190627516 chr2:190627954-190627963
29	MXI1	chr2:190626972-190627983	H1-hESC	embryonic stem cell:	n/a	chr2:190627289-190627298
30	POLR2A	chr2:190627025-190628355	HUVEC	blood vessel:	n/a	n/a
31	POLR2A	chr2:190626959-190628160	H1-neurons	neurons:	n/a	n/a
32	REST	chr2:190626958-190628398	A549	lung:	n/a	chr2:190627525-190627545
33	RCOR1	chr2:190627007-190628008	GM12878	blood:	n/a	n/a
34	RELA	chr2:190627026-190628148	GM15510	blood:	n/a	n/a
35	CREB1	chr2:190626958-190628126	HepG2	liver:	n/a	chr2:190627512-190627525
36	SP4	chr2:190627040-190628105	H1-hESC	embryonic stem cell:	n/a	n/a
37	CTCF	chr2:190627040-190627607	H1-hESC	embryonic stem cell:	n/a	n/a
38	EP300	chr2:190626999-190628080	K562	blood:	n/a	chr2:190627927-190627936 chr2:190627927-190627943 chr2:190627508-190627515
39	POLR2A	chr2:190626964-190628190	GM12892	blood:	n/a	n/a
40	MAX	chr2:190626996-190627860	MCF-7	breast:	n/a	chr2:190627291-190627299 chr2:190627287-190627298 chr2:190627288-190627297
41	HDAC2	chr2:190626980-190627775	MCF-7	breast:	n/a	chr2:190627525-190627544
42	CTCF	chr2:190627000-190627150	NB4	blood:	n/a	n/a
43	MAX	chr2:190626966-190628103	NB4	blood:	n/a	chr2:190627291-190627299 chr2:190627287-190627298 chr2:190627288-190627297
44	MYBL2	chr2:190626798-190628192	HepG2	liver:	n/a	n/a
45	GABPA	chr2:190626883-190628419	A549	lung:	n/a	n/a
46	MAFK	chr2:190626971-190627979	Hela-S3	cervix:	n/a	n/a
47	RCOR1	chr2:190626981-190628084	K562	blood:	n/a	n/a
48	POLR2A	chr2:190626933-190628089	GM12892	blood:	n/a	n/a
49	MAX	chr2:190627026-190628050	ECC-1	luminal epithelium:	n/a	chr2:190627291-190627299 chr2:190627287-190627298 chr2:190627288-190627297
50	POLR2A	chr2:190626961-190628198	PANC-1	pancreas:	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	chr2:190626523..190630050-chr2:190647058..190650887,5	MCF-7	breast:
7	chr2:190626444..190627162-chr8:6691837..6692818,2	NB4	blood:
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-AS1	TF binding region
OSGEPL1	TF binding region
ENSG00000151687	Chromatin interaction
ENSG00000231145	Chromatin interaction
ENSG00000128699	Chromatin interaction
ENSG00000138381	Chromatin interaction
ENSG00000064933	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]
rs13418434	1.00[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]
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	chr2:190626400-190627200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
5	chr2:190626400-190628400	Active TSS	A549	lung
6	chr2:190626400-190628600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:190626400-190628600	Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr2:190626400-190628800	Active TSS	HUES48 Cell Line	embryonic stem cell
9	chr2:190626600-190627200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr2:190626600-190627200	Flanking Active TSS	Primary T cells from cord blood	blood
11	chr2:190626600-190627200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
12	chr2:190626600-190627200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr2:190626600-190627200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr2:190626600-190627200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
15	chr2:190626600-190627400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr2:190626600-190628200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr2:190626600-190628400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
18	chr2:190626600-190628400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr2:190626600-190628400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr2:190626600-190628400	Active TSS	K562	blood
21	chr2:190626600-190628600	Active TSS	H1 Cell Line	embryonic stem cell
22	chr2:190626600-190628600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr2:190626600-190628600	Active TSS	HUES6 Cell Line	embryonic stem cell
24	chr2:190626600-190628600	Active TSS	iPS-15b Cell Line	embryonic stem cell
25	chr2:190626600-190628600	Active TSS	Rectal Mucosa Donor 29	rectum
26	chr2:190626600-190628800	Active TSS	HUES64 Cell Line	embryonic stem cell
27	chr2:190626800-190627200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr2:190626800-190627200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr2:190626800-190627200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
30	chr2:190626800-190627200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
31	chr2:190626800-190627200	Flanking Active TSS	Primary B cells from peripheral blood	blood
32	chr2:190626800-190627200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
33	chr2:190626800-190627200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
34	chr2:190626800-190627200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
35	chr2:190626800-190627200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
36	chr2:190626800-190627200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
37	chr2:190626800-190627200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
38	chr2:190626800-190627200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr2:190626800-190627200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
40	chr2:190626800-190627200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
41	chr2:190626800-190627200	Flanking Active TSS	Liver	Liver
42	chr2:190626800-190627200	Flanking Active TSS	Brain Angular Gyrus	brain
43	chr2:190626800-190627200	Active TSS	Brain Germinal Matrix	brain
44	chr2:190626800-190627200	Flanking Active TSS	Brain Hippocampus Middle	brain
45	chr2:190626800-190627200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
46	chr2:190626800-190627200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
47	chr2:190626800-190627200	Flanking Active TSS	Colon Smooth Muscle	Colon
48	chr2:190626800-190627200	Flanking Active TSS	Duodenum Mucosa	Duodenum
49	chr2:190626800-190627200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
50	chr2:190626800-190627200	Flanking Active TSS	Fetal Intestine Large	intestine

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