Variant report

Variant	rs563026461
Chromosome Location	chr2:11295564-11295565
allele	G/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	MXI1	chr2:11295500-11296253	GM12878	blood:	n/a	n/a
2	POLR2A	chr2:11295497-11295765	HepG2	liver:	n/a	n/a
3	POLR2A	chr2:11294498-11295955	K562	blood:	n/a	n/a
4	RAD21	chr2:11295524-11295886	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr2:11295442-11296146	K562	blood:	n/a	n/a
6	POLR2A	chr2:11295482-11295824	H1-neurons	neurons:	n/a	n/a
7	CTCF	chr2:11295540-11295690	GM12868	blood:	n/a	n/a
8	MBD4	chr2:11295503-11296247	HepG2	liver:	n/a	n/a
9	TAF1	chr2:11295460-11296023	SK-N-SH	brain:	n/a	n/a
10	ZNF143	chr2:11295519-11295863	Hela-S3	cervix:	n/a	n/a
11	YY1	chr2:11295473-11296084	K562	blood:	n/a	chr2:11295828-11295842 chr2:11295827-11295841
12	CTCF	chr2:11295560-11295710	HBMEC	blood vessel:	n/a	n/a
13	SMC3	chr2:11295563-11295868	Hela-S3	cervix:	n/a	chr2:11295838-11295848
14	SIN3AK20	chr2:11295467-11295766	HepG2	liver:	n/a	n/a
15	HEY1	chr2:11295487-11295906	K562	blood:	n/a	n/a
16	YY1	chr2:11295472-11296260	GM12892	blood:	n/a	chr2:11295828-11295842 chr2:11295827-11295841
17	CTCF	chr2:11295480-11295806	HepG2	liver:	n/a	n/a
18	ETS1	chr2:11295483-11295890	K562	blood:	n/a	n/a
19	MAX	chr2:11295447-11296207	K562	blood:	n/a	n/a
20	UBTF	chr2:11295498-11296044	K562	blood:	n/a	n/a
21	TCF3	chr2:11295526-11295685	GM12878	blood:	n/a	n/a
22	TAF7	chr2:11295482-11295848	H1-hESC	embryonic stem cell:	n/a	n/a
23	BHLHE40	chr2:11295541-11296183	K562	blood:	n/a	chr2:11295824-11295840 chr2:11295848-11295864 chr2:11295859-11295875
24	MAX	chr2:11294672-11296003	NB4	blood:	n/a	chr2:11294830-11294839
25	MAX	chr2:11295471-11296248	ECC-1	luminal epithelium:	n/a	n/a
26	POLR2A	chr2:11294658-11295953	H1-hESC	embryonic stem cell:	n/a	n/a
27	SIN3AK20	chr2:11294598-11296478	MCF-7	breast:	n/a	n/a
28	TBP	chr2:11294505-11296224	H1-hESC	embryonic stem cell:	n/a	n/a
29	POLR2A	chr2:11295445-11296152	H1-hESC	embryonic stem cell:	n/a	n/a
30	ELF1	chr2:11295486-11296217	GM12878	blood:	n/a	n/a
31	EP300	chr2:11295437-11295968	A549	lung:	n/a	chr2:11295855-11295871 chr2:11295849-11295865
32	POLR2A	chr2:11295466-11295889	PANC-1	pancreas:	n/a	n/a
33	EP300	chr2:11295447-11295941	ECC-1	luminal epithelium:	n/a	chr2:11295855-11295871 chr2:11295849-11295865
34	CTCF	chr2:11295560-11295710	GM12874	blood:	n/a	n/a
35	POLR2A	chr2:11294938-11295828	HepG2	liver:	n/a	n/a
36	E2F6	chr2:11295449-11296333	A549	lung:	n/a	n/a
37	HDAC2	chr2:11295491-11295744	H1-hESC	embryonic stem cell:	n/a	n/a
38	TCF12	chr2:11295510-11295847	A549	lung:	n/a	n/a
39	MYC	chr2:11294684-11296006	NB4	blood:	n/a	chr2:11294830-11294839
40	TAF1	chr2:11295514-11295872	Hela-S3	cervix:	n/a	n/a
41	POLR2A	chr2:11295482-11295768	GM12892	blood:	n/a	n/a
42	MAX	chr2:11294625-11296349	MCF-7	breast:	n/a	chr2:11294830-11294839
43	MYBL2	chr2:11295470-11295943	HepG2	liver:	n/a	n/a
44	POLR2A	chr2:11294455-11296181	GM12892	blood:	n/a	n/a
45	EGR1	chr2:11295429-11295793	K562	blood:	n/a	n/a
46	MXI1	chr2:11295464-11296700	SK-N-SH	brain:	n/a	n/a
47	POLR2A	chr2:11295464-11295836	A549	lung:	n/a	n/a
48	POLR2A	chr2:11294811-11295958	Gliobla	brain:	n/a	n/a
49	TAF1	chr2:11295461-11295979	H1-hESC	embryonic stem cell:	n/a	n/a
50	RUNX3	chr2:11295478-11295908	GM12878	blood:	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	chr2:11294308..11297184-chr2:11482767..11485221,3	K562	blood:
6	chr2:11271098..11275692-chr2:11293512..11297101,4	MCF-7	breast:
7	chr2:11292916..11295580-chr2:11604494..11607840,3	MCF-7	breast:
8	chr2:11294400..11297941-chr2:11298345..11302243,10	MCF-7	breast:
9	chr2:11295159..11297169-chr2:11486526..11488952,2	K562	blood:

Variant related genes	Relation type
PQLC3	TF binding region
ENSG00000145063	Chromatin interaction
ENSG00000264010	Chromatin interaction
ENSG00000134318	Chromatin interaction
ENSG00000196208	Chromatin interaction
ENSG00000150873	Chromatin interaction
ENSG00000169016	Chromatin interaction
ENSG00000162976	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:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11294400-11296000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr2:11294400-11296000	Active TSS	Brain Substantia Nigra	brain
3	chr2:11294600-11296000	Active TSS	Breast Myoepithelial Primary Cells	Breast
4	chr2:11294600-11296000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr2:11294600-11296000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr2:11294600-11296000	Active TSS	Brain Anterior Caudate	brain
7	chr2:11294600-11296000	Active TSS	Brain Hippocampus Middle	brain
8	chr2:11294600-11296000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
9	chr2:11294600-11296000	Active TSS	Duodenum Smooth Muscle	Duodenum
10	chr2:11294600-11296000	Active TSS	Esophagus	oesophagus
11	chr2:11294600-11296000	Enhancers	Fetal Brain Male	brain
12	chr2:11294600-11296200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
13	chr2:11294600-11296200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr2:11294600-11296200	Active TSS	Aorta	Aorta
15	chr2:11294600-11296400	Active TSS	H9 Cell Line	embryonic stem cell
16	chr2:11294600-11296400	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr2:11294600-11296400	Active TSS	Ovary	ovary
18	chr2:11294600-11296400	Active TSS	Thymus	Thymus
19	chr2:11294800-11295600	Weak transcription	Spleen	Spleen
20	chr2:11294800-11295800	Active TSS	ES-I3 Cell Line	embryonic stem cell
21	chr2:11294800-11296000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr2:11294800-11296000	Active TSS	Primary T cells from cord blood	blood
23	chr2:11294800-11296000	Active TSS	Brain Germinal Matrix	brain
24	chr2:11294800-11296000	Active TSS	Fetal Kidney	kidney
25	chr2:11294800-11296000	Active TSS	Left Ventricle	heart
26	chr2:11294800-11296000	Active TSS	Right Ventricle	heart
27	chr2:11294800-11296200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr2:11294800-11296200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr2:11294800-11296200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr2:11294800-11296200	Active TSS	Small Intestine	intestine
31	chr2:11294800-11296400	Active TSS	Psoas Muscle	Psoas
32	chr2:11294800-11296400	Active TSS	Right Atrium	heart
33	chr2:11295000-11295600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr2:11295000-11295600	Weak transcription	Lung	lung
35	chr2:11295000-11295600	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr2:11295000-11295600	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr2:11295000-11295800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr2:11295000-11295800	Active TSS	HUES64 Cell Line	embryonic stem cell
39	chr2:11295000-11295800	Active TSS	Primary hematopoietic stem cells short term culture	blood
40	chr2:11295000-11295800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
41	chr2:11295000-11295800	Active TSS	Cortex derived primary cultured neurospheres	brain
42	chr2:11295000-11295800	Active TSS	Colonic Mucosa	Colon
43	chr2:11295000-11295800	Active TSS	Placenta	Placenta
44	chr2:11295000-11295800	Active TSS	Fetal Thymus	thymus
45	chr2:11295000-11295800	Active TSS	Skeletal Muscle Male	skeletal muscle
46	chr2:11295000-11295800	Active TSS	Skeletal Muscle Female	skeletal muscle
47	chr2:11295000-11295800	Active TSS	Stomach Smooth Muscle	stomach
48	chr2:11295000-11295800	Active TSS	HepG2	liver
49	chr2:11295000-11295800	Active TSS	Monocytes-CD14+_RO01746	blood
50	chr2:11295000-11295800	Active TSS	Osteobl	bone

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