Variant report

Variant	rs5742937
Chromosome Location	chr2:190649889-190649890
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:43)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:43 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYBL2	chr2:190648052-190650090	HepG2	liver:	n/a	n/a
2	POLR2A	chr2:190648112-190650548	H1-hESC	embryonic stem cell:	n/a	n/a
3	TBP	chr2:190648693-190649911	Hela-S3	cervix:	n/a	n/a
4	CHD1	chr2:190649217-190650125	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr2:190648309-190649935	K562	blood:	n/a	n/a
6	MAX	chr2:190648089-190650035	A549	lung:	n/a	chr2:190649600-190649609
7	MAX	chr2:190648193-190650137	NB4	blood:	n/a	chr2:190649600-190649609
8	POLR2A	chr2:190648129-190649974	Raji	blood:	n/a	n/a
9	MAX	chr2:190648014-190650024	HepG2	liver:	n/a	chr2:190649600-190649609
10	SIN3A	chr2:190648165-190649894	H1-hESC	embryonic stem cell:	n/a	chr2:190649195-190649206 chr2:190649425-190649438
11	POLR2A	chr2:190647769-190650571	GM12891	blood:	n/a	n/a
12	POLR2A	chr2:190648075-190650574	GM12878	blood:	n/a	n/a
13	SIN3AK20	chr2:190648079-190649901	MCF-7	breast:	n/a	n/a
14	POLR2A	chr2:190647933-190649894	PFSK-1	brain:	n/a	n/a
15	POLR2A	chr2:190648195-190650342	K562	blood:	n/a	n/a
16	RFX5	chr2:190648393-190649889	Hela-S3	cervix:	n/a	chr2:190649598-190649612 chr2:190649600-190649609
17	MAX	chr2:190648222-190649931	Hela-S3	cervix:	n/a	chr2:190649600-190649609
18	ELK1	chr2:190649462-190649989	GM12878	blood:	n/a	n/a
19	MXI1	chr2:190646968-190650605	SK-N-SH	brain:	n/a	n/a
20	POLR2A	chr2:190648097-190650159	Hela-S3	cervix:	n/a	n/a
21	POLR2A	chr2:190648492-190649895	K562	blood:	n/a	n/a
22	MAZ	chr2:190647839-190650051	GM12878	blood:	n/a	chr2:190649600-190649609
23	HEY1	chr2:190648466-190649908	HepG2	liver:	n/a	n/a
24	REST	chr2:190648087-190650011	H1-neurons	neurons:	n/a	chr2:190648965-190648972
25	MYC	chr2:190648127-190650215	MCF10A-Er-Src	breast:	n/a	chr2:190649600-190649609
26	POLR2A	chr2:190648348-190649898	K562	blood:	n/a	n/a
27	POLR2A	chr2:190648098-190649993	HepG2	liver:	n/a	n/a
28	MXI1	chr2:190647981-190650026	IMR90	lung:	n/a	n/a
29	POLR2A	chr2:190648136-190651362	HepG2	liver:	n/a	n/a
30	POLR2A	chr2:190648034-190650548	SK-N-MC	brain:	n/a	n/a
31	POLR2A	chr2:190648363-190649900	K562	blood:	n/a	n/a
32	POLR2A	chr2:190647838-190650429	GM12878	blood:	n/a	n/a
33	RELA	chr2:190648069-190650006	GM10847	blood:	n/a	n/a
34	POLR2A	chr2:190648053-190650549	MCF10A-Er-Src	breast:	n/a	n/a
35	MYC	chr2:190648221-190650230	MCF10A-Er-Src	breast:	n/a	chr2:190649600-190649609
36	GATA2	chr2:190648686-190650388	SH-SY5Y	brain:	n/a	n/a
37	MXI1	chr2:190647994-190650024	GM12878	blood:	n/a	n/a
38	POLR2A	chr2:190648212-190650007	HepG2	liver:	n/a	n/a
39	MAX	chr2:190648204-190649957	HCT-116	colon:	n/a	chr2:190649600-190649609
40	MYC	chr2:190648108-190650044	K562	blood:	n/a	chr2:190649600-190649609
41	POLR2A	chr2:190647689-190649912	MCF10A-Er-Src	breast:	n/a	n/a
42	CUX1	chr2:190649883-190649902	GM12878	blood:	n/a	n/a
43	POLR2A	chr2:190648235-190649899	GM12892	blood:	n/a	n/a

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:190632138..190639565-chr2:190646675..190650810,8	K562	blood:
2	chr2:190524918..190527666-chr2:190648010..190650648,4	MCF-7	breast:
3	chr2:190640380..190645016-chr2:190647065..190650284,8	MCF-7	breast:
4	chr2:190615675..190618614-chr2:190648414..190651811,3	K562	blood:
5	chr2:190649682..190653858-chr2:190657943..190661151,4	K562	blood:
6	chr2:190626523..190630050-chr2:190647058..190650887,5	MCF-7	breast:
7	chr12:61760473..61761152-chr2:190649533..190650138,2	MCF-7	breast:
8	chr2:190524324..190528374-chr2:190645867..190651485,5	K562	blood:
9	chr2:190523468..190528374-chr2:190647262..190651485,5	K562	blood:
10	chr2:190624834..190631096-chr2:190647637..190651740,7	K562	blood:
11	chr2:190624834..190630334-chr2:190647529..190650706,8	K562	blood:
12	chr2:190631446..190641228-chr2:190647618..190650786,10	MCF-7	breast:
13	chr2:190626375..190630628-chr2:190647839..190651386,6	MCF-7	breast:
14	chr2:190617143..190618720-chr2:190648807..190650350,2	MCF-7	breast:
15	chr2:190636758..190640017-chr2:190647080..190650145,3	MCF-7	breast:

No data

Variant related genes	Relation type
ORMDL1	TF binding region
ENSG00000138381	Chromatin interaction
ENSG00000273240	Chromatin interaction
ENSG00000253559	Chromatin interaction
ENSG00000231145	Chromatin interaction
ENSG00000223249	Chromatin interaction
ENSG00000128694	Chromatin interaction
ENSG00000128699	Chromatin interaction

rs_ID	r²[population]
rs1225081	1.00[EUR][1000 genomes]
rs5742969	1.00[AMR][1000 genomes]

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:190647000-190650200	Active TSS	Psoas Muscle	Psoas
2	chr2:190647200-190650200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr2:190647400-190650200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr2:190647400-190650600	Active TSS	H1 Cell Line	embryonic stem cell
5	chr2:190647400-190651200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr2:190647600-190650000	Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr2:190647600-190650000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr2:190647600-190650000	Active TSS	Fetal Intestine Small	intestine
9	chr2:190647600-190650000	Active TSS	Fetal Muscle Leg	muscle
10	chr2:190647600-190650000	Active TSS	A549	lung
11	chr2:190647600-190650000	Active TSS	HMEC	breast
12	chr2:190647600-190650200	Active TSS	Right Ventricle	heart
13	chr2:190647600-190650200	Active TSS	GM12878-XiMat	blood
14	chr2:190647600-190650200	Active TSS	HSMM	muscle
15	chr2:190647600-190650400	Active TSS	ES-I3 Cell Line	embryonic stem cell
16	chr2:190647600-190650400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr2:190647600-190650400	Active TSS	K562	blood
18	chr2:190647600-190650400	Active TSS	NHDF-Ad	bronchial
19	chr2:190647600-190650600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr2:190647600-190650600	Active TSS	HUES48 Cell Line	embryonic stem cell
21	chr2:190647600-190650600	Active TSS	HUES64 Cell Line	embryonic stem cell
22	chr2:190647600-190650600	Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr2:190647600-190650600	Active TSS	Muscle Satellite Cultured Cells	--
24	chr2:190647600-190650600	Active TSS	NHLF	lung
25	chr2:190647600-190651000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr2:190647800-190650000	Active TSS	iPS-15b Cell Line	embryonic stem cell
27	chr2:190647800-190650000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr2:190647800-190650000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr2:190647800-190650000	Active TSS	Breast Myoepithelial Primary Cells	Breast
30	chr2:190647800-190650000	Active TSS	Primary T cells fromperipheralblood	blood
31	chr2:190647800-190650000	Active TSS	Colon Smooth Muscle	Colon
32	chr2:190647800-190650000	Active TSS	Fetal Intestine Large	intestine
33	chr2:190647800-190650000	Active TSS	Fetal Stomach	stomach
34	chr2:190647800-190650000	Bivalent/Poised TSS	HepG2	liver
35	chr2:190647800-190650200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr2:190647800-190650200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
37	chr2:190647800-190650600	Active TSS	Fetal Brain Female	brain
38	chr2:190647800-190650800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr2:190648000-190650000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr2:190648000-190650000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr2:190648000-190650000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr2:190648000-190650000	Active TSS	Brain Anterior Caudate	brain
43	chr2:190648000-190650000	Active TSS	Brain Germinal Matrix	brain
44	chr2:190648000-190650000	Active TSS	Pancreatic Islets	Pancreatic Islet
45	chr2:190648000-190650000	Active TSS	Fetal Lung	lung
46	chr2:190648000-190650000	Active TSS	Placenta	Placenta
47	chr2:190648000-190650000	Active TSS	Placenta Amnion	Placenta Amnion
48	chr2:190648000-190650000	Active TSS	Stomach Smooth Muscle	stomach
49	chr2:190648000-190650000	Active TSS	NH-A	brain
50	chr2:190648000-190650200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell

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