Variant report

Variant	rs5742917
Chromosome Location	chr2:190647726-190647727
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAZ	chr2:190647712-190649713	IMR90	lung:	n/a	chr2:190649600-190649609
2	MXI1	chr2:190646968-190650605	SK-N-SH	brain:	n/a	n/a
3	FOXA1	chr2:190647629-190648365	HepG2	liver:	n/a	chr2:190648188-190648200
4	FOXA1	chr2:190647587-190648372	HepG2	liver:	n/a	chr2:190648188-190648200
5	POLR2A	chr2:190647689-190649912	MCF10A-Er-Src	breast:	n/a	n/a

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:190632138..190639565-chr2:190646675..190650810,8	K562	blood:
2	chr2:190640380..190645016-chr2:190647065..190650284,8	MCF-7	breast:
3	chr2:190626523..190630050-chr2:190647058..190650887,5	MCF-7	breast:
4	chr2:190524324..190528374-chr2:190645867..190651485,5	K562	blood:
5	chr2:190523468..190528374-chr2:190647262..190651485,5	K562	blood:
6	chr2:190624834..190631096-chr2:190647637..190651740,7	K562	blood:
7	chr2:190624834..190630334-chr2:190647529..190650706,8	K562	blood:
8	chr2:190631446..190641228-chr2:190647618..190650786,10	MCF-7	breast:
9	chr2:190636758..190640017-chr2:190647080..190650145,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000231145	TF binding region
PMS1	TF binding region
ENSG00000138381	Chromatin interaction
ENSG00000273240	Chromatin interaction
ENSG00000128694	Chromatin interaction
ENSG00000253559	Chromatin interaction
ENSG00000128699	Chromatin interaction
ENSG00000231145	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs13399871	1.00[MEX][hapmap]
rs1982475	1.00[MEX][hapmap]
rs2066457	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs5742952	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs5742963	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs5743013	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs5743015	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs5743080	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs5743128	1.00[AMR][1000 genomes]
rs5743131	1.00[AMR][1000 genomes]
rs5743132	1.00[AMR][1000 genomes]
rs5743155	1.00[AMR][1000 genomes]
rs5743156	1.00[AMR][1000 genomes]
rs5743180	1.00[AMR][1000 genomes]
rs61744814	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72547267	1.00[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	chr2:190627800-190648200	Weak transcription	Gastric	stomach
2	chr2:190628200-190648000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:190628200-190648000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:190628200-190648200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:190628400-190648000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr2:190628600-190648400	Weak transcription	Small Intestine	intestine
7	chr2:190641800-190648000	Weak transcription	Colonic Mucosa	Colon
8	chr2:190644000-190648200	Weak transcription	Esophagus	oesophagus
9	chr2:190644000-190648200	Weak transcription	Spleen	Spleen
10	chr2:190644200-190648200	Weak transcription	Lung	lung
11	chr2:190644400-190647800	Weak transcription	Thymus	Thymus
12	chr2:190645800-190647800	Enhancers	Liver	Liver
13	chr2:190645800-190648000	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr2:190646000-190647800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr2:190646000-190647800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr2:190646000-190648200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr2:190646200-190647800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr2:190646400-190648200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
19	chr2:190646600-190648000	Enhancers	Primary neutrophils fromperipheralblood	blood
20	chr2:190646800-190648000	Enhancers	Brain Substantia Nigra	brain
21	chr2:190647000-190647800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr2:190647000-190647800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr2:190647000-190647800	Enhancers	Colon Smooth Muscle	Colon
24	chr2:190647000-190647800	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
25	chr2:190647000-190647800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr2:190647000-190647800	Enhancers	Fetal Stomach	stomach
27	chr2:190647000-190647800	Enhancers	Rectal Mucosa Donor 31	rectum
28	chr2:190647000-190647800	Transcr. at gene 5' and 3'	Dnd41	blood
29	chr2:190647000-190648000	Flanking Active TSS	Duodenum Mucosa	Duodenum
30	chr2:190647000-190648200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
31	chr2:190647000-190648200	Flanking Active TSS	HUVEC	blood vessel
32	chr2:190647000-190648400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
33	chr2:190647000-190648800	Active TSS	Right Atrium	heart
34	chr2:190647000-190650200	Active TSS	Psoas Muscle	Psoas
35	chr2:190647200-190647800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr2:190647200-190647800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
37	chr2:190647200-190647800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
38	chr2:190647200-190647800	Flanking Active TSS	Fetal Brain Female	brain
39	chr2:190647200-190647800	Weak transcription	Fetal Thymus	thymus
40	chr2:190647200-190647800	Enhancers	Placenta Amnion	Placenta Amnion
41	chr2:190647200-190648000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr2:190647200-190648000	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
43	chr2:190647200-190648000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
44	chr2:190647200-190648000	Enhancers	Stomach Mucosa	stomach
45	chr2:190647200-190648200	Flanking Active TSS	Fetal Brain Male	brain
46	chr2:190647200-190648200	Flanking Active TSS	Fetal Heart	heart
47	chr2:190647200-190648400	Flanking Active TSS	Primary B cells from cord blood	blood
48	chr2:190647200-190648400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr2:190647200-190648400	Flanking Active TSS	Adipose Nuclei	Adipose
50	chr2:190647200-190648600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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