Variant report

Variant	rs34744592
Chromosome Location	chr2:178257724-178257725
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:295)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:295 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:178257052-178257782	GM12892	blood:	n/a	n/a
2	RCOR1	chr2:178257058-178257962	HepG2	liver:	n/a	n/a
3	CREB1	chr2:178257104-178257731	H1-hESC	embryonic stem cell:	n/a	n/a
4	E2F4	chr2:178257181-178257947	K562	blood:	n/a	chr2:178257493-178257503
5	TAF1	chr2:178257122-178257912	K562	blood:	n/a	n/a
6	HCFC1	chr2:178257149-178257984	K562	blood:	n/a	n/a
7	NFIC	chr2:178257110-178258017	ECC-1	luminal epithelium:	n/a	n/a
8	RCOR1	chr2:178256716-178257994	K562	blood:	n/a	n/a
9	MBD4	chr2:178256722-178258314	HepG2	liver:	n/a	n/a
10	POLR2A	chr2:178257012-178257811	PANC-1	pancreas:	n/a	n/a
11	POLR2A	chr2:178257073-178257987	HepG2	liver:	n/a	n/a
12	ZEB1	chr2:178256584-178258106	HepG2	liver:	n/a	chr2:178256734-178256742 chr2:178256740-178256747
13	CREB1	chr2:178257077-178257758	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr2:178257240-178258055	IMR90	lung:	n/a	n/a
15	PAX5	chr2:178257115-178257894	GM12892	blood:	n/a	n/a
16	POLR2A	chr2:178257002-178258035	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr2:178257049-178258013	K562	blood:	n/a	n/a
18	RELA	chr2:178257063-178257799	GM12891	blood:	n/a	n/a
19	POLR2A	chr2:178257038-178258000	GM12878	blood:	n/a	n/a
20	MAX	chr2:178256944-178258072	ECC-1	luminal epithelium:	n/a	n/a
21	MXI1	chr2:178256828-178258346	GM12878	blood:	n/a	n/a
22	MYC	chr2:178256754-178258291	K562	blood:	n/a	chr2:178256755-178256766
23	GABPA	chr2:178257175-178257774	SK-N-SH	brain:	n/a	n/a
24	TCF12	chr2:178256807-178257892	A549	lung:	n/a	n/a
25	POLR2A	chr2:178257108-178257937	U87	brain:	n/a	n/a
26	POLR2A	chr2:178257121-178257994	Hela-S3	cervix:	n/a	n/a
27	GATA2	chr2:178257102-178257877	SH-SY5Y	brain:	n/a	chr2:178257241-178257249 chr2:178257284-178257291
28	POLR2A	chr2:178257094-178257771	HCT-116	colon:	n/a	n/a
29	YY1	chr2:178257029-178257976	ECC-1	luminal epithelium:	n/a	n/a
30	GABPA	chr2:178257159-178257962	K562	blood:	n/a	n/a
31	POLR2A	chr2:178257010-178257844	ECC-1	luminal epithelium:	n/a	n/a
32	POLR2A	chr2:178257110-178257944	HUVEC	blood vessel:	n/a	n/a
33	SPI1	chr2:178257674-178258000	GM12891	blood:	n/a	chr2:178257861-178257870
34	POLR2A	chr2:178257110-178257929	GM18526	blood:	n/a	n/a
35	TCF7L2	chr2:178257159-178257868	Hela-S3	cervix:	n/a	n/a
36	TAF1	chr2:178257116-178258015	HepG2	liver:	n/a	n/a
37	SP1	chr2:178257087-178257734	A549	lung:	n/a	n/a
38	SIN3AK20	chr2:178257146-178257920	K562	blood:	n/a	n/a
39	TAF1	chr2:178256978-178257994	ECC-1	luminal epithelium:	n/a	n/a
40	POLR2A	chr2:178256840-178257767	MCF10A-Er-Src	breast:	n/a	n/a
41	POLR2A	chr2:178257141-178257862	HEK293	kidney:	n/a	n/a
42	TEAD4	chr2:178257084-178258014	H1-hESC	embryonic stem cell:	n/a	n/a
43	THAP1	chr2:178257159-178257889	K562	blood:	n/a	n/a
44	CREB1	chr2:178257192-178257870	A549	lung:	n/a	n/a
45	RUNX3	chr2:178256946-178257957	GM12878	blood:	n/a	n/a
46	NFYA	chr2:178257387-178257724	Hela-S3	cervix:	n/a	n/a
47	MYC	chr2:178256983-178257817	K562	blood:	n/a	n/a
48	HNF4G	chr2:178257158-178257860	HepG2	liver:	n/a	chr2:178257465-178257478 chr2:178257466-178257478 chr2:178257466-178257478 chr2:178257465-178257480 chr2:178257466-178257479 chr2:178257465-178257479 chr2:178257461-178257483
49	POLR2A	chr2:178256977-178258047	K562	blood:	n/a	n/a
50	HEY1	chr2:178256849-178257980	K562	blood:	n/a	n/a

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:178256384..178259130-chr2:178415368..178419750,5	K562	blood:
2	chr2:178093079..178095559-chr2:178255837..178257857,2	MCF-7	breast:
3	chr2:178125970..178131401-chr2:178255081..178263132,15	K562	blood:
4	chr2:178257565..178262041-chr2:178276576..178279686,5	K562	blood:
5	chr2:178208196..178211847-chr2:178255899..178258427,3	K562	blood:
6	chr2:178257289..178257860-chr9:19375202..19375984,2	NB4	blood:
7	chr2:178207678..178210773-chr2:178255899..178258732,5	K562	blood:
8	chr16:777202..777796-chr2:178257297..178258024,2	NB4	blood:
9	chr2:178077054..178078928-chr2:178255788..178258583,2	K562	blood:
10	chr2:178128089..178131376-chr2:178255205..178259020,7	K562	blood:
11	chr2:178255830..178259425-chr2:178483453..178485926,4	K562	blood:
12	chr2:178256384..178258999-chr2:178416044..178418294,3	K562	blood:

No data

Variant related genes	Relation type
NFE2L2	TF binding region
ENSG00000213963	TF binding region
ENSG00000263721	Chromatin interaction
ENSG00000222043	Chromatin interaction
ENSG00000116044	Chromatin interaction
ENSG00000225808	Chromatin interaction
ENSG00000197557	Chromatin interaction
ENSG00000170144	Chromatin interaction
ENSG00000238295	Chromatin interaction
ENSG00000229337	Chromatin interaction
ENSG00000196659	Chromatin interaction
ENSG00000103253	Chromatin interaction
ENSG00000237178	Chromatin interaction
ENSG00000273226	Chromatin interaction

rs_ID	r²[population]
rs10497507	1.00[GIH][hapmap];1.00[MEX][hapmap];0.90[EUR][1000 genomes]
rs16865184	0.90[EUR][1000 genomes]
rs16865226	1.00[GIH][hapmap];1.00[MEX][hapmap];0.90[EUR][1000 genomes]

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178256600-178258000	Active TSS	Rectal Mucosa Donor 29	rectum
2	chr2:178256600-178258600	Active TSS	HUES64 Cell Line	embryonic stem cell
3	chr2:178256600-178258600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr2:178256600-178258600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
5	chr2:178256600-178258800	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr2:178256600-178259000	Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr2:178256600-178259200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
8	chr2:178256600-178259800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr2:178256600-178260200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr2:178256800-178258200	Active TSS	iPS-15b Cell Line	embryonic stem cell
11	chr2:178256800-178258200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr2:178256800-178258400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr2:178256800-178258600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
14	chr2:178256800-178258600	Active TSS	H9 Cell Line	embryonic stem cell
15	chr2:178256800-178258600	Active TSS	HUES48 Cell Line	embryonic stem cell
16	chr2:178256800-178258600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr2:178256800-178258600	Active TSS	Brain Germinal Matrix	brain
18	chr2:178256800-178258600	Active TSS	Right Atrium	heart
19	chr2:178256800-178258600	Active TSS	NHLF	lung
20	chr2:178256800-178258800	Active TSS	H1 Cell Line	embryonic stem cell
21	chr2:178256800-178258800	Active TSS	Psoas Muscle	Psoas
22	chr2:178256800-178258800	Active TSS	Right Ventricle	heart
23	chr2:178256800-178258800	Active TSS	NHDF-Ad	bronchial
24	chr2:178256800-178259400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr2:178256800-178259600	Active TSS	HSMMtube	muscle
26	chr2:178256800-178259800	Flanking Active TSS	Primary hematopoietic stem cells	blood
27	chr2:178256800-178261200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr2:178257000-178258200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr2:178257000-178258200	Active TSS	Brain Hippocampus Middle	brain
30	chr2:178257000-178258200	Active TSS	Placenta Amnion	Placenta Amnion
31	chr2:178257000-178258400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr2:178257000-178258400	Active TSS	Aorta	Aorta
33	chr2:178257000-178258400	Active TSS	Esophagus	oesophagus
34	chr2:178257000-178258400	Active TSS	Gastric	stomach
35	chr2:178257000-178258400	Active TSS	Lung	lung
36	chr2:178257000-178258600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr2:178257000-178258600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
38	chr2:178257000-178258600	Active TSS	Pancreatic Islets	Pancreatic Islet
39	chr2:178257000-178258600	Active TSS	Ovary	ovary
40	chr2:178257000-178258800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr2:178257000-178258800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr2:178257000-178259000	Active TSS	Duodenum Smooth Muscle	Duodenum
43	chr2:178257000-178260000	Active TSS	Fetal Kidney	kidney
44	chr2:178257200-178257800	Active TSS	Primary T cells from cord blood	blood
45	chr2:178257200-178257800	Active TSS	Primary T regulatory cells fromperipheralblood	blood
46	chr2:178257200-178257800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr2:178257200-178257800	Active TSS	Liver	Liver
48	chr2:178257200-178257800	Active TSS	Spleen	Spleen
49	chr2:178257200-178258000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
50	chr2:178257200-178258000	Active TSS	Primary T helper naive cells from peripheral blood	blood

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