Variant report

Variant	rs72835491
Chromosome Location	chr2:114707245-114707246
allele	C/T
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	POLR2A	chr2:114707153-114707417	GM12878	blood:	n/a	n/a
2	POLR2A	chr2:114707037-114707619	GM12891	blood:	n/a	n/a
3	POLR2A	chr2:114707002-114707680	GM12891	blood:	n/a	n/a
4	POLR2A	chr2:114707232-114707473	GM12891	blood:	n/a	n/a
5	POLR2A	chr2:114707007-114707547	GM12891	blood:	n/a	n/a
6	POLR2A	chr2:114707055-114709121	GM12892	blood:	n/a	n/a
7	POLR2A	chr2:114707030-114708297	GM12892	blood:	n/a	n/a
8	POLR2A	chr2:114707024-114708996	GM12892	blood:	n/a	n/a
9	POLR2A	chr2:114707055-114708245	K562	blood:	n/a	n/a
10	POLR2A	chr2:114707008-114708300	GM12878	blood:	n/a	n/a
11	POLR2A	chr2:114707203-114708287	HepG2	liver:	n/a	n/a
12	POLR2A	chr2:114706965-114707576	GM12892	blood:	n/a	n/a
13	POLR2A	chr2:114706794-114707641	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:114683290..114685123-chr2:114706093..114707991,2	K562	blood:
2	chr2:114704731..114707955-chr2:114708956..114711860,3	K562	blood:

Variant related genes	Relation type
ACTR3	TF binding region
ENSG00000115091	Chromatin interaction

rs_ID	r²[population]
rs12998926	1.00[ASN][1000 genomes]
rs34004564	1.00[ASN][1000 genomes]
rs34222823	1.00[ASN][1000 genomes]
rs72833658	1.00[AFR][1000 genomes]
rs72833664	1.00[AFR][1000 genomes]
rs72833665	1.00[ASN][1000 genomes]
rs72835446	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72835471	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72835497	1.00[ASN][1000 genomes]
rs72835498	1.00[ASN][1000 genomes]

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:114653600-114734800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr2:114668400-114735000	Weak transcription	Stomach Mucosa	stomach
3	chr2:114670800-114717400	Strong transcription	Fetal Thymus	thymus
4	chr2:114670800-114719000	Strong transcription	Dnd41	blood
5	chr2:114671000-114720000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr2:114672000-114723200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:114674400-114715800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr2:114676600-114719800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr2:114680400-114721200	Strong transcription	Primary neutrophils fromperipheralblood	blood
10	chr2:114681600-114717600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr2:114681600-114719400	Strong transcription	NH-A	brain
12	chr2:114681800-114722600	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr2:114682600-114723400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr2:114682600-114725000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr2:114683000-114715800	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr2:114683400-114719800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr2:114683400-114720000	Strong transcription	NHDF-Ad	bronchial
18	chr2:114687000-114718200	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr2:114687400-114719400	Strong transcription	Primary T helper cells fromperipheralblood	blood
20	chr2:114688200-114715200	Strong transcription	HUES6 Cell Line	embryonic stem cell
21	chr2:114688400-114719200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr2:114688600-114719400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr2:114689000-114711000	Strong transcription	Primary T helper naive cells from peripheral blood	blood
24	chr2:114689400-114715200	Strong transcription	Rectal Mucosa Donor 31	rectum
25	chr2:114689400-114716800	Strong transcription	Placenta	Placenta
26	chr2:114691600-114715400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
27	chr2:114691800-114710600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr2:114691800-114716200	Strong transcription	HUVEC	blood vessel
29	chr2:114691800-114719800	Strong transcription	HSMM	muscle
30	chr2:114693000-114716600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr2:114693200-114720000	Strong transcription	Primary T helper cells PMA-I stimulated	--
32	chr2:114695200-114720200	Strong transcription	Primary monocytes fromperipheralblood	blood
33	chr2:114695400-114715000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr2:114696000-114716000	Strong transcription	Osteobl	bone
35	chr2:114696000-114720200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr2:114696400-114715600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
37	chr2:114696400-114717400	Strong transcription	Liver	Liver
38	chr2:114696400-114718800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr2:114696400-114719400	Strong transcription	Rectal Mucosa Donor 29	rectum
40	chr2:114696600-114709400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr2:114696600-114719200	Strong transcription	GM12878-XiMat	blood
42	chr2:114696600-114719400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr2:114696600-114719400	Strong transcription	Primary B cells from peripheral blood	blood
44	chr2:114697000-114715200	Strong transcription	Primary hematopoietic stem cells	blood
45	chr2:114697600-114711200	Weak transcription	Pancreatic Islets	Pancreatic Islet
46	chr2:114697800-114715800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr2:114698400-114715600	Strong transcription	K562	blood
48	chr2:114699400-114707600	Strong transcription	Cortex derived primary cultured neurospheres	brain
49	chr2:114700200-114710600	Strong transcription	Fetal Intestine Large	intestine
50	chr2:114700600-114708000	Strong transcription	Primary T killer memory cells from peripheral blood	blood

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