Variant report

Variant	rs1225116
Chromosome Location	chr2:190627876-190627877
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	CTCF	chr2:190627826-190628053	MCF-7	breast:	n/a	chr2:190627929-190627942
2	POLR2A	chr2:190627107-190627982	Gliobla	brain:	n/a	n/a
3	MAX	chr2:190626929-190628143	HepG2	liver:	n/a	chr2:190627291-190627299 chr2:190627287-190627298 chr2:190627288-190627297
4	POLR2A	chr2:190627030-190628574	GM18505	blood:	n/a	n/a
5	EP300	chr2:190627383-190628167	A549	lung:	n/a	chr2:190627927-190627936 chr2:190627927-190627943 chr2:190627508-190627515
6	CTCF	chr2:190627210-190628039	K562	blood:	n/a	chr2:190627929-190627942
7	POLR2A	chr2:190627075-190628212	U87	brain:	n/a	n/a
8	SPI1	chr2:190627849-190628025	K562	blood:	n/a	n/a
9	TBP	chr2:190626852-190628126	Hela-S3	cervix:	n/a	n/a
10	CTCF	chr2:190627820-190627970	GM12870	blood:	n/a	chr2:190627929-190627942
11	CTCF	chr2:190627844-190628026	GM20000	blood:	n/a	chr2:190627929-190627942
12	HDAC2	chr2:190627759-190628119	HepG2	liver:	n/a	n/a
13	POLR2A	chr2:190626921-190628182	GM12892	blood:	n/a	n/a
14	POLR2A	chr2:190627046-190628035	H1-hESC	embryonic stem cell:	n/a	n/a
15	USF2	chr2:190627021-190627989	Hela-S3	cervix:	n/a	chr2:190627287-190627298
16	CTCF	chr2:190627800-190627950	NHEK	skin:	n/a	chr2:190627929-190627942
17	SIN3AK20	chr2:190627764-190628105	A549	lung:	n/a	n/a
18	PML	chr2:190627216-190628062	GM12878	blood:	n/a	n/a
19	POLR2A	chr2:190626954-190628088	GM12891	blood:	n/a	n/a
20	POLR2A	chr2:190627041-190628230	SK-N-MC	brain:	n/a	n/a
21	CEBPB	chr2:190626968-190628122	GM12878	blood:	n/a	chr2:190626995-190627003 chr2:190627942-190627954
22	EP300	chr2:190627321-190628022	GM12878	blood:	n/a	chr2:190627927-190627936 chr2:190627927-190627943 chr2:190627508-190627515
23	MAX	chr2:190626801-190628247	A549	lung:	n/a	chr2:190627291-190627299 chr2:190627287-190627298 chr2:190627288-190627297
24	RAD21	chr2:190627247-190628013	H1-hESC	embryonic stem cell:	n/a	chr2:190627493-190627507
25	MBD4	chr2:190626822-190628164	HepG2	liver:	n/a	n/a
26	CTCF	chr2:190627860-190628010	AG04449	skin:	n/a	chr2:190627929-190627942
27	POLR2A	chr2:190627037-190628176	HCT-116	colon:	n/a	n/a
28	TBP	chr2:190627117-190628221	GM12878	blood:	n/a	n/a
29	CTCFL	chr2:190627772-190628005	K562	blood:	n/a	chr2:190627929-190627938
30	TEAD4	chr2:190626742-190628490	HepG2	liver:	n/a	n/a
31	MYC	chr2:190626945-190628078	K562	blood:	n/a	chr2:190627291-190627299 chr2:190627287-190627298 chr2:190627288-190627297
32	RUNX3	chr2:190627091-190628380	GM12878	blood:	n/a	n/a
33	CTCF	chr2:190627838-190628042	ProgFib	skin:	n/a	chr2:190627929-190627942
34	ZNF143	chr2:190627267-190628108	K562	blood:	n/a	n/a
35	SIX5	chr2:190626896-190628257	A549	lung:	n/a	n/a
36	CEBPB	chr2:190627323-190628072	HepG2	liver:	n/a	chr2:190627942-190627954
37	CTCF	chr2:190627840-190627990	GM12869	blood:	n/a	chr2:190627929-190627942
38	POLR2A	chr2:190626962-190628252	HepG2	liver:	n/a	n/a
39	ATF3	chr2:190627228-190628000	A549	lung:	n/a	n/a
40	MAFK	chr2:190627653-190627921	K562	blood:	n/a	n/a
41	SP1	chr2:190627056-190628194	A549	lung:	n/a	chr2:190628010-190628017
42	POLR2A	chr2:190626928-190628453	SK-N-SH	brain:	n/a	n/a
43	CREB1	chr2:190627057-190628130	GM12878	blood:	n/a	chr2:190627512-190627525
44	SIN3AK20	chr2:190626958-190628086	MCF-7	breast:	n/a	n/a
45	NR2F2	chr2:190627159-190628030	K562	blood:	n/a	n/a
46	CTCF	chr2:190627840-190627990	Hela-S3	cervix:	n/a	chr2:190627929-190627942
47	POLR2A	chr2:190627110-190628170	HUVEC	blood vessel:	n/a	n/a
48	CTCF	chr2:190627795-190628068	LNCaP	prostate:	n/a	chr2:190627929-190627942
49	POLR2A	chr2:190627797-190628100	HepG2	liver:	n/a	n/a
50	CEBPB	chr2:190627213-190628015	H1-hESC	embryonic stem cell:	n/a	chr2:190627942-190627954

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
ENSG00000231145	Chromatin interaction
ENSG00000064933	Chromatin interaction
ENSG00000128699	Chromatin interaction
ENSG00000151687	Chromatin interaction

Extended variants
information (count: 105 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:105)

rs_ID	r²[population]
rs10168387	1.00[AMR][1000 genomes]
rs1030135	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1145231	1.00[AMR][1000 genomes]
rs1145232	1.00[AMR][1000 genomes]
rs1145233	1.00[AMR][1000 genomes]
rs1145234	1.00[AMR][1000 genomes]
rs1225075	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1225079	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1225080	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1225081	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1225084	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1225085	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1225087	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1225088	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1225089	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1225090	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1225092	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1225096	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1225098	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1225099	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1225104	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1225106	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1225107	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1225109	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1225110	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1225112	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1225114	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1225120	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1233241	1.00[AMR][1000 genomes]
rs1233242	1.00[AMR][1000 genomes]
rs1233243	1.00[AMR][1000 genomes]
rs1233244	1.00[AMR][1000 genomes]
rs1233246	1.00[AMR][1000 genomes]
rs1233247	1.00[AMR][1000 genomes]
rs1233248	1.00[AMR][1000 genomes]
rs1233249	1.00[AMR][1000 genomes]
rs1233250	1.00[AMR][1000 genomes]
rs1233251	1.00[AMR][1000 genomes]
rs1233252	1.00[AMR][1000 genomes]
rs1233253	1.00[AMR][1000 genomes]
rs1233254	1.00[AMR][1000 genomes]
rs1233256	1.00[AMR][1000 genomes]
rs1233257	1.00[AMR][1000 genomes]
rs1233260	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1233261	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1233263	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1233266	1.00[AMR][1000 genomes]
rs1233275	1.00[AMR][1000 genomes]
rs1233277	1.00[AMR][1000 genomes]
rs1233280	1.00[AMR][1000 genomes]
rs1233281	1.00[AMR][1000 genomes]
rs1233283	1.00[AMR][1000 genomes]
rs1233287	1.00[AMR][1000 genomes]
rs1233289	1.00[AMR][1000 genomes]
rs1233292	1.00[AMR][1000 genomes]
rs1233293	1.00[AMR][1000 genomes]
rs1233294	1.00[AMR][1000 genomes]
rs1233298	1.00[AMR][1000 genomes]
rs1233300	1.00[AMR][1000 genomes]
rs1233303	1.00[AMR][1000 genomes]
rs1235156	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1238785	1.00[AMR][1000 genomes]
rs13034572	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1530143	1.00[AMR][1000 genomes]
rs16831859	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16831861	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16831866	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16831876	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16831884	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16831894	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1866643	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1899024	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1899027	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2164831	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2243894	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2244190	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2245742	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2245753	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2249907	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2252486	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2252487	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2254044	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2254144	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2254166	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2254167	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2254270	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2255705	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2256718	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2256719	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2262765	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2438282	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2439184	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2439185	1.00[ASN][1000 genomes]
rs2544056	1.00[AMR][1000 genomes]
rs4666784	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55859858	1.00[ASN][1000 genomes]
rs5742956	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs5743182	1.00[ASN][1000 genomes]
rs6434369	0.81[AFR][1000 genomes]
rs6706168	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6709840	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6725344	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6735135	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7591672	1.00[ASN][1000 genomes]
rs7606224	0.92[AFR][1000 genomes];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	chr2:190626800-190628200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr2:190626800-190628200	Active TSS	H9 Cell Line	embryonic stem cell
21	chr2:190626800-190628200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr2:190626800-190628200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr2:190626800-190628200	Active TSS	Colonic Mucosa	Colon
24	chr2:190626800-190628200	Active TSS	Fetal Intestine Small	intestine
25	chr2:190626800-190628200	Active TSS	Right Ventricle	heart
26	chr2:190626800-190628200	Active TSS	Sigmoid Colon	Sigmoid Colon
27	chr2:190626800-190628200	Active TSS	Stomach Mucosa	stomach
28	chr2:190626800-190628200	Active TSS	HSMM	muscle
29	chr2:190626800-190628400	Active TSS	ES-I3 Cell Line	embryonic stem cell
30	chr2:190626800-190628400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
31	chr2:190626800-190628400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr2:190626800-190628400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr2:190626800-190628400	Active TSS	Brain Cingulate Gyrus	brain
34	chr2:190626800-190628400	Active TSS	Fetal Muscle Trunk	muscle
35	chr2:190626800-190628400	Active TSS	Fetal Muscle Leg	muscle
36	chr2:190626800-190628400	Active TSS	Fetal Thymus	thymus
37	chr2:190626800-190628400	Active TSS	Thymus	Thymus
38	chr2:190626800-190628400	Active TSS	GM12878-XiMat	blood
39	chr2:190626800-190628400	Active TSS	HSMMtube	muscle
40	chr2:190626800-190628400	Active TSS	NHDF-Ad	bronchial
41	chr2:190626800-190628400	Active TSS	NHEK	skin
42	chr2:190626800-190628600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr2:190626800-190628600	Active TSS	iPS-18 Cell Line	embryonic stem cell
44	chr2:190626800-190628600	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
45	chr2:190626800-190628600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr2:190626800-190628600	Active TSS	Fetal Lung	lung
47	chr2:190626800-190628600	Active TSS	Psoas Muscle	Psoas
48	chr2:190626800-190628600	Active TSS	Right Atrium	heart
49	chr2:190626800-190628600	Active TSS	Stomach Smooth Muscle	stomach
50	chr2:190626800-190628600	Active TSS	Hela-S3	cervix

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