Variant report

Variant	rs2430491
Chromosome Location	chr2:37431107-37431108
allele	A/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	SETDB1	chr2:37430789-37431365	U2OS	brain:	n/a	n/a
2	CBX3	chr2:37430717-37431373	K562	blood:	n/a	n/a
3	CBX3	chr2:37430804-37431265	K562	blood:	n/a	n/a
4	POLR2A	chr2:37430649-37431110	SK-N-MC	brain:	n/a	n/a
5	POLR2A	chr2:37430571-37431400	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr2:37429837-37431295	K562	blood:	n/a	n/a
7	POLR2A	chr2:37430779-37431110	K562	blood:	n/a	n/a
8	KAP1	chr2:37430925-37431233	K562	blood:	n/a	n/a
9	POLR2A	chr2:37430730-37431121	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr2:37430742-37431224	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
ENSG00000272054	TF binding region

rs_ID	r²[population]
rs17020529	1.00[MEX][hapmap]
rs2430492	0.86[AFR][1000 genomes]
rs2465492	0.81[YRI][hapmap];0.82[AFR][1000 genomes]
rs2540978	0.91[YRI][hapmap];0.82[AFR][1000 genomes]
rs2540981	0.86[YRI][hapmap];0.82[AFR][1000 genomes]
rs2714472	0.82[AFR][1000 genomes]
rs2714473	1.00[MEX][hapmap]

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37424400-37433200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:37424400-37446400	Weak transcription	Small Intestine	intestine
3	chr2:37424800-37433200	Weak transcription	Right Atrium	heart
4	chr2:37425000-37433200	Weak transcription	Esophagus	oesophagus
5	chr2:37425000-37433200	Weak transcription	Rectal Smooth Muscle	rectum
6	chr2:37425000-37444200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr2:37425200-37433000	Weak transcription	Colonic Mucosa	Colon
8	chr2:37425200-37433000	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr2:37425200-37433200	Weak transcription	Pancreas	Pancrea
10	chr2:37425200-37433200	Weak transcription	Stomach Mucosa	stomach
11	chr2:37425200-37433200	Weak transcription	Spleen	Spleen
12	chr2:37426200-37438200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr2:37426600-37433600	Strong transcription	Primary T cells fromperipheralblood	blood
14	chr2:37426600-37438200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr2:37426600-37451400	Strong transcription	Fetal Thymus	thymus
16	chr2:37426800-37433200	Strong transcription	Primary B cells from cord blood	blood
17	chr2:37427000-37433200	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr2:37427000-37433400	Strong transcription	Placenta	Placenta
19	chr2:37427000-37434200	Strong transcription	Stomach Smooth Muscle	stomach
20	chr2:37427200-37441200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr2:37427400-37434200	Strong transcription	Hela-S3	cervix
22	chr2:37427400-37435600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr2:37427600-37433200	Strong transcription	Primary monocytes fromperipheralblood	blood
24	chr2:37427600-37433200	Strong transcription	Duodenum Mucosa	Duodenum
25	chr2:37427600-37434200	Strong transcription	NH-A	brain
26	chr2:37427600-37439600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr2:37427800-37431800	Strong transcription	Cortex derived primary cultured neurospheres	brain
28	chr2:37427800-37431800	Strong transcription	Skeletal Muscle Male	skeletal muscle
29	chr2:37427800-37432600	Weak transcription	Psoas Muscle	Psoas
30	chr2:37427800-37433000	Strong transcription	Ovary	ovary
31	chr2:37427800-37451400	Strong transcription	Rectal Mucosa Donor 29	rectum
32	chr2:37428000-37439600	Strong transcription	Primary neutrophils fromperipheralblood	blood
33	chr2:37428600-37431400	Strong transcription	Skeletal Muscle Female	skeletal muscle
34	chr2:37428800-37433000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr2:37429000-37431400	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
36	chr2:37429000-37433200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr2:37429000-37449200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr2:37429200-37431400	Strong transcription	Primary T killer memory cells from peripheral blood	blood
39	chr2:37429200-37433200	Weak transcription	Aorta	Aorta
40	chr2:37429200-37434600	Strong transcription	HSMM	muscle
41	chr2:37429400-37437400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr2:37429400-37449000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr2:37429800-37431200	Weak transcription	Fetal Stomach	stomach
44	chr2:37429800-37431400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
45	chr2:37429800-37431400	Weak transcription	Lung	lung
46	chr2:37429800-37452600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
47	chr2:37430200-37431200	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
48	chr2:37430200-37431400	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr2:37430200-37431400	ZNF genes & repeats	Fetal Muscle Trunk	muscle
50	chr2:37430200-37431600	ZNF genes & repeats	H1 Cell Line	embryonic stem cell

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