Variant report

Variant	rs530609341
Chromosome Location	chr2:11294518-11294519
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:39)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:39 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:11294498-11295955	K562	blood:	n/a	n/a
2	HCFC1	chr2:11294496-11295169	K562	blood:	n/a	n/a
3	TBP	chr2:11294505-11296224	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr2:11294463-11295376	GM12878	blood:	n/a	n/a
5	POLR2A	chr2:11294455-11296181	GM12892	blood:	n/a	n/a
6	E2F6	chr2:11294406-11295324	A549	lung:	n/a	chr2:11294633-11294650 chr2:11295137-11295147
7	TFAP2C	chr2:11294516-11296088	Hela-S3	cervix:	n/a	n/a
8	REST	chr2:11294496-11294658	K562	blood:	n/a	chr2:11294555-11294568
9	POLR2A	chr2:11294468-11296073	GM19193	blood:	n/a	n/a
10	POLR2A	chr2:11294477-11295893	GM12891	blood:	n/a	n/a
11	TCF12	chr2:11294335-11296260	A549	lung:	n/a	chr2:11296117-11296127 chr2:11295841-11295851
12	POLR2A	chr2:11294514-11296127	Raji	blood:	n/a	n/a
13	POLR2A	chr2:11294472-11295260	HCT-116	colon:	n/a	n/a
14	POLR2A	chr2:11294416-11295241	K562	blood:	n/a	n/a
15	MYC	chr2:11294355-11296467	A549	lung:	n/a	chr2:11294830-11294839
16	POLR2A	chr2:11294463-11296145	K562	blood:	n/a	n/a
17	POLR2A	chr2:11294413-11295237	ECC-1	luminal epithelium:	n/a	n/a
18	PML	chr2:11294480-11294934	K562	blood:	n/a	n/a
19	POLR2A	chr2:11294441-11295352	HUVEC	blood vessel:	n/a	n/a
20	PML	chr2:11294453-11295372	GM12878	blood:	n/a	n/a
21	POLR2A	chr2:11294504-11295189	GM12891	blood:	n/a	n/a
22	POLR2A	chr2:11294421-11296067	Hela-S3	cervix:	n/a	n/a
23	HEY1	chr2:11294472-11295234	K562	blood:	n/a	n/a
24	POLR2A	chr2:11294479-11295250	GM12892	blood:	n/a	n/a
25	POLR2A	chr2:11294417-11295268	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr2:11294379-11295327	K562	blood:	n/a	n/a
27	POLR2A	chr2:11294440-11296189	GM18505	blood:	n/a	n/a
28	POLR2A	chr2:11294383-11295362	PANC-1	pancreas:	n/a	n/a
29	PML	chr2:11294486-11295272	K562	blood:	n/a	n/a
30	POLR2A	chr2:11294505-11295980	K562	blood:	n/a	n/a
31	MAX	chr2:11294408-11296480	A549	lung:	n/a	chr2:11294830-11294839
32	POLR2A	chr2:11294492-11295224	K562	blood:	n/a	n/a
33	POLR2A	chr2:11294456-11295250	SK-N-SH	brain:	n/a	n/a
34	POLR2A	chr2:11294378-11296218	GM12878	blood:	n/a	n/a
35	E2F6	chr2:11294454-11295293	H1-hESC	embryonic stem cell:	n/a	chr2:11294633-11294650 chr2:11295137-11295147
36	REST	chr2:11294512-11295197	A549	lung:	n/a	chr2:11294555-11294568
37	BCL3	chr2:11294412-11295322	A549	lung:	n/a	n/a
38	TAF1	chr2:11294480-11295364	ECC-1	luminal epithelium:	n/a	n/a
39	MXI1	chr2:11294480-11296253	IMR90	lung:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

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:

No data

Variant related genes	Relation type
PQLC3	TF binding region
ENSG00000162976	Chromatin interaction
ENSG00000145063	Chromatin interaction
ENSG00000264010	Chromatin interaction
ENSG00000134318	Chromatin interaction
ENSG00000150873	Chromatin interaction
ENSG00000169016	Chromatin interaction
ENSG00000196208	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:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11274000-11294600	Weak transcription	Right Atrium	heart
2	chr2:11284600-11294600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:11288200-11294600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr2:11289600-11294600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr2:11291800-11294800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr2:11292800-11294600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr2:11294200-11294600	Enhancers	Primary B cells from cord blood	blood
8	chr2:11294200-11294600	Enhancers	Primary B cells from peripheral blood	blood
9	chr2:11294200-11294600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
10	chr2:11294200-11294600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
11	chr2:11294200-11294600	Bivalent Enhancer	Fetal Intestine Small	intestine
12	chr2:11294200-11294600	Bivalent Enhancer	Fetal Muscle Leg	muscle
13	chr2:11294200-11294600	Enhancers	Placenta	Placenta
14	chr2:11294200-11294600	Enhancers	Rectal Mucosa Donor 29	rectum
15	chr2:11294200-11294800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr2:11294400-11294600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr2:11294400-11294600	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
18	chr2:11294400-11294600	Bivalent Enhancer	iPS-15b Cell Line	embryonic stem cell
19	chr2:11294400-11294600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
20	chr2:11294400-11294600	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
21	chr2:11294400-11294600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr2:11294400-11294600	Enhancers	Primary neutrophils fromperipheralblood	blood
23	chr2:11294400-11294600	Enhancers	Primary T cells from cord blood	blood
24	chr2:11294400-11294600	Enhancers	Primary T cells fromperipheralblood	blood
25	chr2:11294400-11294600	Enhancers	Primary hematopoietic stem cells	blood
26	chr2:11294400-11294600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
27	chr2:11294400-11294600	Enhancers	Primary T helper naive cells from peripheral blood	blood
28	chr2:11294400-11294600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
29	chr2:11294400-11294600	Enhancers	Primary T helper cells PMA-I stimulated	--
30	chr2:11294400-11294600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
31	chr2:11294400-11294600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
32	chr2:11294400-11294600	Enhancers	Primary T killer memory cells from peripheral blood	blood
33	chr2:11294400-11294600	Enhancers	Muscle Satellite Cultured Cells	--
34	chr2:11294400-11294600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr2:11294400-11294600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
36	chr2:11294400-11294600	Enhancers	Liver	Liver
37	chr2:11294400-11294600	Enhancers	Brain Angular Gyrus	brain
38	chr2:11294400-11294600	Enhancers	Brain Cingulate Gyrus	brain
39	chr2:11294400-11294600	Enhancers	Brain Inferior Temporal Lobe	brain
40	chr2:11294400-11294600	Active TSS	Colonic Mucosa	Colon
41	chr2:11294400-11294600	Active TSS	Colon Smooth Muscle	Colon
42	chr2:11294400-11294600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr2:11294400-11294600	Bivalent Enhancer	Fetal Intestine Large	intestine
44	chr2:11294400-11294600	Enhancers	Fetal Lung	lung
45	chr2:11294400-11294600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
46	chr2:11294400-11294600	Enhancers	Fetal Thymus	thymus
47	chr2:11294400-11294600	Enhancers	Psoas Muscle	Psoas
48	chr2:11294400-11294600	Enhancers	Rectal Smooth Muscle	rectum
49	chr2:11294400-11294600	Enhancers	Skeletal Muscle Male	skeletal muscle
50	chr2:11294400-11294600	Active TSS	Skeletal Muscle Female	skeletal muscle

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