Variant report

Variant	rs11683738
Chromosome Location	chr2:74153422-74153423
allele	C/G
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	CHD2	chr2:74153194-74154429	K562	blood:	n/a	chr2:74153868-74153877
2	JUN	chr2:74152917-74154545	K562	blood:	n/a	chr2:74153571-74153578 chr2:74153642-74153651 chr2:74153566-74153577 chr2:74153570-74153578
3	EP300	chr2:74153193-74154286	GM12878	blood:	n/a	n/a
4	CHD1	chr2:74153170-74155051	IMR90	lung:	n/a	chr2:74153868-74153877
5	NFIC	chr2:74153281-74154558	GM12878	blood:	n/a	n/a
6	POLR2A	chr2:74153200-74153456	ProgFib	skin:	n/a	n/a
7	CUX1	chr2:74153360-74153654	K562	blood:	n/a	n/a
8	POLR2A	chr2:74153282-74154633	PFSK-1	brain:	n/a	n/a
9	RFX5	chr2:74153401-74154070	K562	blood:	n/a	n/a
10	ATF2	chr2:74153179-74154410	GM12878	blood:	n/a	n/a
11	FOS	chr2:74153070-74153453	MCF10A-Er-Src	breast:	n/a	n/a
12	POLR2A	chr2:74152952-74155263	MCF10A-Er-Src	breast:	n/a	n/a
13	STAT3	chr2:74153134-74153517	MCF10A-Er-Src	breast:	n/a	n/a
14	NR2F2	chr2:74153379-74154309	K562	blood:	n/a	n/a
15	MBD4	chr2:74153289-74154696	HepG2	liver:	n/a	n/a
16	POLR2A	chr2:74153397-74153445	HUVEC	blood vessel:	n/a	n/a
17	STAT3	chr2:74153033-74154078	MCF10A-Er-Src	breast:	n/a	n/a
18	FOS	chr2:74153036-74154082	MCF10A-Er-Src	breast:	n/a	chr2:74153571-74153578 chr2:74153642-74153651 chr2:74153566-74153577 chr2:74153570-74153578
19	CHD1	chr2:74153363-74154609	GM12878	blood:	n/a	chr2:74153868-74153877
20	RELA	chr2:74153297-74154345	GM19099	blood:	n/a	chr2:74153650-74153659 chr2:74153650-74153659
21	POLR2A	chr2:74153249-74154701	GM12891	blood:	n/a	n/a
22	KAP1	chr2:74153400-74153925	K562	blood:	n/a	chr2:74153571-74153580
23	POLR2A	chr2:74153229-74154568	PBDE	blood:	n/a	n/a
24	POLR2A	chr2:74152806-74157039	MCF10A-Er-Src	breast:	n/a	n/a
25	BRCA1	chr2:74153269-74154542	Hela-S3	cervix:	n/a	n/a
26	GATA3	chr2:74152704-74153492	MCF-7	breast:	n/a	n/a
27	REST	chr2:74153066-74153522	MCF-7	breast:	n/a	n/a
28	POLR2A	chr2:74153261-74155122	Hela-S3	cervix:	n/a	n/a
29	FOS	chr2:74153042-74153493	MCF10A-Er-Src	breast:	n/a	n/a
30	GABPA	chr2:74152946-74154773	MCF-7	breast:	n/a	n/a
31	ZBTB33	chr2:74153379-74154433	A549	lung:	n/a	chr2:74153863-74153878
32	MYC	chr2:74153056-74153494	MCF10A-Er-Src	breast:	n/a	n/a
33	HCFC1	chr2:74153009-74154733	Hela-S3	cervix:	n/a	n/a
34	POLR2A	chr2:74153022-74153551	SK-N-MC	brain:	n/a	n/a
35	STAT3	chr2:74153061-74154081	MCF10A-Er-Src	breast:	n/a	n/a
36	BCL3	chr2:74153305-74154607	A549	lung:	n/a	chr2:74154270-74154283 chr2:74153649-74153658 chr2:74154004-74154013 chr2:74153648-74153657 chr2:74153924-74153933 chr2:74153989-74153998
37	CHD1	chr2:74153398-74155020	H1-hESC	embryonic stem cell:	n/a	chr2:74153868-74153877
38	STAT3	chr2:74152826-74154078	MCF10A-Er-Src	breast:	n/a	n/a
39	FOS	chr2:74152975-74154114	MCF10A-Er-Src	breast:	n/a	chr2:74153571-74153578 chr2:74153642-74153651 chr2:74153566-74153577 chr2:74153570-74153578
40	TBL1XR1	chr2:74153329-74154114	K562	blood:	n/a	n/a
41	MYC	chr2:74153052-74154666	MCF10A-Er-Src	breast:	n/a	chr2:74153640-74153650

No.	Distal block	Cell Line	Cell type
1	chr2:74153417..74154291-chr8:104426606..104427170,2	Hela-S3	cervix:
2	chr2:74153344..74154195-chr5:110847669..110848405,2	Hela-S3	cervix:
3	chr2:74153382..74154315-chr4:184365512..184366398,2	Hela-S3	cervix:
4	chr2:74151187..74158039-chr2:74203173..74216266,29	MCF-7	breast:
5	chr2:74152462..74158334-chr2:74210550..74216243,8	K562	blood:
6	chr2:74055732..74057461-chr2:74150977..74153486,3	K562	blood:
7	chr2:74151695..74161558-chr2:74205273..74215127,19	K562	blood:
8	chr2:74153007..74155466-chr2:74228011..74231907,5	K562	blood:
9	chr2:74147649..74157677-chr2:74203379..74217813,34	MCF-7	breast:
10	chr2:74152943..74155577-chr2:74424141..74426377,3	K562	blood:
11	chr2:74152943..74155577-chr2:74424141..74426427,4	K562	blood:

Variant related genes	Relation type
DGUOK	TF binding region
ENSG00000124356	Chromatin interaction
ENSG00000168564	Chromatin interaction
ENSG00000246859	Chromatin interaction
ENSG00000237883	Chromatin interaction
ENSG00000065911	Chromatin interaction
ENSG00000164934	Chromatin interaction
ENSG00000235499	Chromatin interaction
ENSG00000255989	Chromatin interaction
ENSG00000187605	Chromatin interaction
ENSG00000164211	Chromatin interaction

rs_ID	r²[population]
rs10188058	1.00[CHB][hapmap]
rs1025424	1.00[CHB][hapmap]
rs11677402	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11898903	1.00[CHB][hapmap]
rs12466586	1.00[CHB][hapmap]
rs12991192	1.00[CHB][hapmap]
rs12995468	1.00[CHB][hapmap]
rs13011961	1.00[CHB][hapmap]
rs13016198	1.00[CHB][hapmap]
rs17404009	1.00[CHB][hapmap]
rs17676291	1.00[CHB][hapmap]
rs17725971	1.00[CHB][hapmap]
rs2567599	1.00[JPT][hapmap]
rs62151970	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6717896	1.00[CHB][hapmap]
rs7593050	1.00[CHB][hapmap]
rs870722	1.00[CHB][hapmap]

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:74138600-74154000	Weak transcription	Esophagus	oesophagus
2	chr2:74140800-74154000	Weak transcription	Lung	lung
3	chr2:74146400-74153600	Weak transcription	Ovary	ovary
4	chr2:74146800-74154000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr2:74147200-74154000	Weak transcription	Aorta	Aorta
6	chr2:74148600-74153800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr2:74151400-74153600	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr2:74152400-74153600	Enhancers	Placenta	Placenta
9	chr2:74152400-74154200	Active TSS	Rectal Mucosa Donor 31	rectum
10	chr2:74152600-74153800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
11	chr2:74153000-74153600	Flanking Active TSS	A549	lung
12	chr2:74153000-74153600	Flanking Active TSS	Hela-S3	cervix
13	chr2:74153000-74153600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
14	chr2:74153000-74153600	Flanking Active TSS	NHEK	skin
15	chr2:74153000-74154600	Active TSS	Liver	Liver
16	chr2:74153000-74155000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr2:74153200-74153600	Enhancers	H1 Cell Line	embryonic stem cell
18	chr2:74153200-74153600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
19	chr2:74153200-74153600	Flanking Active TSS	Primary T cells from cord blood	blood
20	chr2:74153200-74153600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
21	chr2:74153200-74153600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
22	chr2:74153200-74153600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
23	chr2:74153200-74153600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
24	chr2:74153200-74153600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
25	chr2:74153200-74153600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr2:74153200-74153600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr2:74153200-74153600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr2:74153200-74153600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr2:74153200-74153600	Flanking Active TSS	Adipose Nuclei	Adipose
30	chr2:74153200-74153600	Flanking Active TSS	Brain Angular Gyrus	brain
31	chr2:74153200-74153600	Enhancers	Fetal Brain Male	brain
32	chr2:74153200-74153600	Flanking Active TSS	Fetal Intestine Large	intestine
33	chr2:74153200-74153600	Enhancers	Fetal Muscle Trunk	muscle
34	chr2:74153200-74153600	Enhancers	Pancreas	Pancrea
35	chr2:74153200-74153600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
36	chr2:74153200-74153600	Flanking Active TSS	Stomach Mucosa	stomach
37	chr2:74153200-74153600	Flanking Active TSS	Stomach Smooth Muscle	stomach
38	chr2:74153200-74153600	Flanking Active TSS	Dnd41	blood
39	chr2:74153200-74153600	Flanking Active TSS	GM12878-XiMat	blood
40	chr2:74153200-74153600	Flanking Active TSS	HepG2	liver
41	chr2:74153200-74153600	Flanking Active TSS	Osteobl	bone
42	chr2:74153200-74153800	Flanking Active TSS	Primary hematopoietic stem cells	blood
43	chr2:74153200-74154400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
44	chr2:74153200-74154600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr2:74153200-74154600	Active TSS	Brain Cingulate Gyrus	brain
46	chr2:74153200-74154600	Active TSS	Brain Hippocampus Middle	brain
47	chr2:74153200-74154600	Active TSS	Duodenum Mucosa	Duodenum
48	chr2:74153200-74154600	Active TSS	Rectal Smooth Muscle	rectum
49	chr2:74153200-74154600	Active TSS	Skeletal Muscle Male	skeletal muscle
50	chr2:74153200-74154800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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