Variant report

Variant	rs547913600
Chromosome Location	chr2:11294670-11294671
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	CBX3	chr2:11294535-11295165	K562	blood:	n/a	n/a
2	POLR2A	chr2:11294498-11295955	K562	blood:	n/a	n/a
3	ELF1	chr2:11294642-11295434	MCF-7	breast:	n/a	chr2:11295167-11295178 chr2:11295167-11295178 chr2:11295136-11295145
4	HCFC1	chr2:11294496-11295169	K562	blood:	n/a	n/a
5	POLR2A	chr2:11294658-11295953	H1-hESC	embryonic stem cell:	n/a	n/a
6	SIN3AK20	chr2:11294598-11296478	MCF-7	breast:	n/a	n/a
7	POLR2A	chr2:11294573-11295227	MCF10A-Er-Src	breast:	n/a	n/a
8	TBP	chr2:11294505-11296224	H1-hESC	embryonic stem cell:	n/a	n/a
9	POLR2A	chr2:11294566-11295205	GM12891	blood:	n/a	n/a
10	SP4	chr2:11294668-11294914	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr2:11294463-11295376	GM12878	blood:	n/a	n/a
12	POLR2A	chr2:11294537-11295223	GM12891	blood:	n/a	n/a
13	MAX	chr2:11294625-11296349	MCF-7	breast:	n/a	chr2:11294830-11294839
14	POLR2A	chr2:11294455-11296181	GM12892	blood:	n/a	n/a
15	TFAP2A	chr2:11294610-11295333	Hela-S3	cervix:	n/a	chr2:11295198-11295213 chr2:11295073-11295081 chr2:11295134-11295145 chr2:11295067-11295082 chr2:11295073-11295081 chr2:11295070-11295085 chr2:11295196-11295208 chr2:11295197-11295208 chr2:11295073-11295081
16	TAF7	chr2:11294670-11295031	K562	blood:	n/a	n/a
17	POLR2A	chr2:11294575-11295211	H1-hESC	embryonic stem cell:	n/a	n/a
18	E2F6	chr2:11294406-11295324	A549	lung:	n/a	chr2:11294633-11294650 chr2:11295137-11295147
19	POLR2A	chr2:11294628-11295997	HUVEC	blood vessel:	n/a	n/a
20	POLR2A	chr2:11294653-11296172	GM18951	blood:	n/a	n/a
21	POLR2A	chr2:11294541-11295169	PBDE	blood:	n/a	n/a
22	POLR2A	chr2:11294522-11295840	K562	blood:	n/a	n/a
23	TFAP2C	chr2:11294516-11296088	Hela-S3	cervix:	n/a	n/a
24	MAZ	chr2:11294665-11295960	GM12878	blood:	n/a	chr2:11294830-11294839
25	POLR2A	chr2:11294529-11295236	SK-N-MC	brain:	n/a	n/a
26	MAX	chr2:11294575-11295173	A549	lung:	n/a	chr2:11294830-11294839
27	YY1	chr2:11294548-11295197	A549	lung:	n/a	chr2:11295133-11295147
28	POLR2A	chr2:11294468-11296073	GM19193	blood:	n/a	n/a
29	POLR2A	chr2:11294477-11295893	GM12891	blood:	n/a	n/a
30	POLR2A	chr2:11294609-11295238	PANC-1	pancreas:	n/a	n/a
31	MAX	chr2:11294608-11295323	H1-hESC	embryonic stem cell:	n/a	chr2:11294830-11294839
32	TCF12	chr2:11294335-11296260	A549	lung:	n/a	chr2:11296117-11296127 chr2:11295841-11295851
33	BRCA1	chr2:11294665-11294689	GM12878	blood:	n/a	n/a
34	TAF7	chr2:11294573-11295196	H1-hESC	embryonic stem cell:	n/a	n/a
35	MAX	chr2:11294556-11295326	ECC-1	luminal epithelium:	n/a	chr2:11294830-11294839
36	POLR2A	chr2:11294514-11296127	Raji	blood:	n/a	n/a
37	POLR2A	chr2:11294472-11295260	HCT-116	colon:	n/a	n/a
38	POLR2A	chr2:11294416-11295241	K562	blood:	n/a	n/a
39	TAF1	chr2:11294537-11295337	ECC-1	luminal epithelium:	n/a	n/a
40	ZNF143	chr2:11294640-11295077	K562	blood:	n/a	n/a
41	MYC	chr2:11294355-11296467	A549	lung:	n/a	chr2:11294830-11294839
42	POLR2A	chr2:11294658-11295224	H1-hESC	embryonic stem cell:	n/a	n/a
43	POLR2A	chr2:11294571-11295957	GM18526	blood:	n/a	n/a
44	TBP	chr2:11294603-11295855	K562	blood:	n/a	n/a
45	NR2F2	chr2:11294552-11295195	K562	blood:	n/a	n/a
46	MAZ	chr2:11294597-11296156	K562	blood:	n/a	chr2:11294830-11294839
47	POLR2A	chr2:11294463-11296145	K562	blood:	n/a	n/a
48	MAX	chr2:11294536-11296322	A549	lung:	n/a	chr2:11294830-11294839
49	MAX	chr2:11294595-11295139	H1-hESC	embryonic stem cell:	n/a	chr2:11294830-11294839
50	POLR2A	chr2:11294413-11295237	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:11293490..11296297-chr2:11680693..11684323,3	MCF-7	breast:
2	chr2:11273055..11275301-chr2:11293268..11296881,3	MCF-7	breast:
3	chr2:11292941..11297094-chr2:11480820..11486254,6	MCF-7	breast:
4	chr2:11273067..11276077-chr2:11294167..11297061,3	K562	blood:
5	chr2:11292794..11295094-chr2:11339407..11341727,2	MCF-7	breast:
6	chr2:11294308..11297184-chr2:11482767..11485221,3	K562	blood:
7	chr2:11271098..11275692-chr2:11293512..11297101,4	MCF-7	breast:
8	chr2:11292916..11295580-chr2:11604494..11607840,3	MCF-7	breast:
9	chr2:11284657..11286652-chr2:11293189..11295227,2	K562	blood:
10	chr2:11294400..11297941-chr2:11298345..11302243,10	MCF-7	breast:

Variant related genes	Relation type
PQLC3	TF binding region
ENSG00000264010	Chromatin interaction
ENSG00000162976	Chromatin interaction
ENSG00000150873	Chromatin interaction
ENSG00000134318	Chromatin interaction
ENSG00000169016	Chromatin interaction
ENSG00000196208	Chromatin interaction
ENSG00000145063	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv520789	chr2:11259067-11312224	Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	esv3392188	chr2:11294026-11296874	Flanking Active TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
3	esv3368553	chr2:11294376-11296624	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11291800-11294800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:11294200-11294800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr2:11294400-11294800	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
4	chr2:11294400-11294800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr2:11294400-11294800	Enhancers	Pancreas	Pancrea
6	chr2:11294400-11294800	Enhancers	Spleen	Spleen
7	chr2:11294400-11295000	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
8	chr2:11294400-11295000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
9	chr2:11294400-11295000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
10	chr2:11294400-11295000	Flanking Active TSS	Duodenum Mucosa	Duodenum
11	chr2:11294400-11295000	Flanking Active TSS	Stomach Smooth Muscle	stomach
12	chr2:11294400-11295000	Flanking Active TSS	Hela-S3	cervix
13	chr2:11294400-11295000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
14	chr2:11294400-11295200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
15	chr2:11294400-11295200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr2:11294400-11295200	Flanking Active TSS	Adipose Nuclei	Adipose
17	chr2:11294400-11296000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr2:11294400-11296000	Active TSS	Brain Substantia Nigra	brain
19	chr2:11294600-11294800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr2:11294600-11294800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr2:11294600-11294800	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
22	chr2:11294600-11294800	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
23	chr2:11294600-11294800	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
24	chr2:11294600-11294800	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
25	chr2:11294600-11294800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr2:11294600-11294800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr2:11294600-11294800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr2:11294600-11294800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr2:11294600-11294800	Flanking Active TSS	Primary T cells from cord blood	blood
30	chr2:11294600-11294800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr2:11294600-11294800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr2:11294600-11294800	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr2:11294600-11294800	Enhancers	Fetal Kidney	kidney
34	chr2:11294600-11294800	Flanking Active TSS	Psoas Muscle	Psoas
35	chr2:11294600-11294800	Flanking Active TSS	Right Atrium	heart
36	chr2:11294600-11294800	Enhancers	HMEC	breast
37	chr2:11294600-11295000	Flanking Active TSS	H1 Cell Line	embryonic stem cell
38	chr2:11294600-11295000	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr2:11294600-11295000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr2:11294600-11295000	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
41	chr2:11294600-11295000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr2:11294600-11295000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr2:11294600-11295000	Flanking Active TSS	Primary B cells from peripheral blood	blood
44	chr2:11294600-11295000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
45	chr2:11294600-11295000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
46	chr2:11294600-11295000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
47	chr2:11294600-11295000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
48	chr2:11294600-11295000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
49	chr2:11294600-11295000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
50	chr2:11294600-11295000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin

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