Variant report

Variant	rs533350047
Chromosome Location	chr2:211035749-211035750
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	TAF1	chr2:211035280-211035955	H1-hESC	embryonic stem cell:	n/a	n/a
2	USF1	chr2:211034930-211036467	HCT-116	colon:	n/a	chr2:211035505-211035516 chr2:211035570-211035583 chr2:211036081-211036097 chr2:211036220-211036236
3	TAF1	chr2:211035335-211036393	HepG2	liver:	n/a	n/a
4	POLR2A	chr2:211034127-211036817	MCF10A-Er-Src	breast:	n/a	n/a
5	POLR2A	chr2:211034447-211036957	H1-hESC	embryonic stem cell:	n/a	n/a
6	TAF1	chr2:211035278-211036475	H1-neurons	neurons:	n/a	n/a
7	USF1	chr2:211035014-211035934	HCT-116	colon:	n/a	chr2:211035505-211035516 chr2:211035570-211035583
8	POLR2A	chr2:211034499-211036993	GM19099	blood:	n/a	n/a
9	CCNT2	chr2:211035093-211036611	K562	blood:	n/a	chr2:211036173-211036182 chr2:211035598-211035607 chr2:211036225-211036234 chr2:211035564-211035573
10	USF1	chr2:211035109-211035895	ECC-1	luminal epithelium:	n/a	chr2:211035505-211035516 chr2:211035570-211035583
11	POLR2A	chr2:211034837-211036540	Hela-S3	cervix:	n/a	n/a
12	EP300	chr2:211035592-211036202	ECC-1	luminal epithelium:	n/a	chr2:211035872-211035888 chr2:211036082-211036098 chr2:211035890-211035906 chr2:211036088-211036104
13	CTCF	chr2:211035740-211035890	GM12873	blood:	n/a	n/a
14	POLR2A	chr2:211035085-211036488	HEK293	kidney:	n/a	n/a
15	POLR2A	chr2:211035043-211036491	K562	blood:	n/a	n/a
16	POLR2A	chr2:211035239-211036403	HUVEC	blood vessel:	n/a	n/a
17	JUND	chr2:211035000-211035840	H1-hESC	embryonic stem cell:	n/a	n/a
18	MAX	chr2:211034904-211035770	ECC-1	luminal epithelium:	n/a	chr2:211035504-211035519 chr2:211035506-211035516 chr2:211035507-211035516 chr2:211035505-211035514 chr2:211035506-211035515 chr2:211035570-211035579 chr2:211035504-211035517 chr2:211035506-211035516 chr2:211035508-211035515 chr2:211035505-211035516 chr2:211035504-211035517 chr2:211035572-211035581 chr2:211035571-211035582 chr2:211035504-211035517 chr2:211035504-211035517 chr2:211035505-211035516
19	MXI1	chr2:211034611-211035874	GM12878	blood:	n/a	chr2:211035505-211035514 chr2:211035573-211035582
20	PML	chr2:211035014-211035815	K562	blood:	n/a	n/a
21	NFIC	chr2:211034886-211036714	SK-N-SH	brain:	n/a	n/a
22	FOXA1	chr2:211035321-211036456	HepG2	liver:	n/a	n/a
23	USF1	chr2:211035248-211035784	A549	lung:	n/a	chr2:211035505-211035516 chr2:211035570-211035583
24	TBL1XR1	chr2:211035065-211035825	K562	blood:	n/a	n/a
25	POLR2A	chr2:211035071-211036472	HepG2	liver:	n/a	n/a
26	STAT1	chr2:211035243-211035857	GM12878	blood:	n/a	chr2:211035616-211035628 chr2:211035791-211035803
27	POLR2A	chr2:211035187-211036499	GM10847	blood:	n/a	n/a
28	MAZ	chr2:211034809-211037072	GM12878	blood:	n/a	chr2:211035504-211035519 chr2:211035507-211035516 chr2:211035505-211035514 chr2:211035506-211035515 chr2:211035570-211035579 chr2:211035504-211035517 chr2:211035506-211035516 chr2:211035508-211035515 chr2:211035505-211035516 chr2:211035504-211035517 chr2:211035572-211035581 chr2:211035571-211035582 chr2:211036141-211036151 chr2:211035504-211035517 chr2:211035504-211035517 chr2:211035505-211035516
29	MYC	chr2:211035713-211035970	MCF-7	breast:	n/a	n/a
30	TAF1	chr2:211035346-211036371	HepG2	liver:	n/a	n/a
31	RCOR1	chr2:211034855-211036780	HepG2	liver:	n/a	n/a
32	POLR2A	chr2:211034740-211036688	SK-N-MC	brain:	n/a	n/a
33	CTCF	chr2:211035720-211035870	HUVEC	blood vessel:	n/a	n/a
34	RFX5	chr2:211035411-211035833	GM12878	blood:	n/a	n/a
35	POLR2A	chr2:211034961-211035981	Hela-S3	cervix:	n/a	n/a
36	RCOR1	chr2:211035168-211036352	GM12878	blood:	n/a	n/a
37	MAX	chr2:211035109-211035776	A549	lung:	n/a	chr2:211035504-211035519 chr2:211035506-211035516 chr2:211035507-211035516 chr2:211035505-211035514 chr2:211035506-211035515 chr2:211035570-211035579 chr2:211035504-211035517 chr2:211035506-211035516 chr2:211035508-211035515 chr2:211035505-211035516 chr2:211035504-211035517 chr2:211035572-211035581 chr2:211035571-211035582 chr2:211035504-211035517 chr2:211035504-211035517 chr2:211035505-211035516
38	CEBPB	chr2:211034546-211035876	IMR90	lung:	n/a	n/a
39	POLR2A	chr2:211034610-211036577	HUVEC	blood vessel:	n/a	n/a
40	HDAC2	chr2:211035016-211035984	HepG2	liver:	n/a	n/a
41	POLR2A	chr2:211034949-211036386	GM12878	blood:	n/a	n/a
42	MAX	chr2:211034340-211036797	NB4	blood:	n/a	chr2:211035504-211035519 chr2:211035506-211035516 chr2:211035507-211035516 chr2:211035505-211035514 chr2:211035506-211035515 chr2:211035570-211035579 chr2:211035504-211035517 chr2:211035506-211035516 chr2:211035508-211035515 chr2:211035505-211035516 chr2:211035504-211035517 chr2:211035572-211035581 chr2:211035571-211035582 chr2:211036141-211036151 chr2:211035504-211035517 chr2:211035504-211035517 chr2:211035505-211035516
43	POLR2A	chr2:211034087-211036445	K562	blood:	n/a	n/a
44	ZBTB7A	chr2:211035544-211036059	ECC-1	luminal epithelium:	n/a	chr2:211035733-211035744
45	POLR2A	chr2:211035077-211036307	PANC-1	pancreas:	n/a	n/a
46	POLR2A	chr2:211034490-211036807	GM19193	blood:	n/a	n/a
47	POLR2A	chr2:211034937-211035973	H1-hESC	embryonic stem cell:	n/a	n/a
48	ZNF143	chr2:211035174-211036543	GM12878	blood:	n/a	chr2:211035962-211035980 chr2:211036127-211036145 chr2:211035617-211035635
49	EP300	chr2:211034699-211035836	K562	blood:	n/a	n/a
50	POLR2A	chr2:211034415-211036988	GM18951	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:210866282..210870548-chr2:211034114..211037570,6	MCF-7	breast:
2	chr2:211034902..211035782-chr7:7221578..7222378,2	NB4	blood:
3	chr12:52445112..52445895-chr2:211035711..211036692,2	Hela-S3	cervix:
4	chr2:210866819..210870543-chr2:211034282..211037464,4	K562	blood:
5	chr2:211035339..211036285-chr7:130794370..130795172,2	Hela-S3	cervix:
6	chr1:27226170..27226980-chr2:211035625..211036127,2	Hela-S3	cervix:
7	chr2:208633171..208635747-chr2:211035528..211037623,2	MCF-7	breast:
8	chr19:16653137..16653875-chr2:211035395..211036127,2	Hela-S3	cervix:
9	chr13:49821570..49822518-chr2:211035226..211035805,2	NB4	blood:
10	chr2:210865937..210867928-chr2:211034610..211037287,3	MCF-7	breast:
11	chr1:6844290..6845119-chr2:211035227..211035905,2	Hela-S3	cervix:
12	chr2:210813951..210816642-chr2:211034382..211037269,2	K562	blood:
13	chr1:45987079..45988015-chr2:211035169..211036135,2	Hela-S3	cervix:
14	chr2:210866819..210868675-chr2:211034282..211036994,3	K562	blood:
15	chr2:211035591..211036129-chr20:33865533..33866124,2	NB4	blood:

Variant related genes	Relation type
KANSL1L	TF binding region
ENSG00000231294	TF binding region
ENSG00000117450	Chromatin interaction
ENSG00000163251	Chromatin interaction
ENSG00000198746	Chromatin interaction
ENSG00000102543	Chromatin interaction
ENSG00000144406	Chromatin interaction
ENSG00000237436	Chromatin interaction
ENSG00000106392	Chromatin interaction
ENSG00000128585	Chromatin interaction
ENSG00000088298	Chromatin interaction
ENSG00000085872	Chromatin interaction
ENSG00000126005	Chromatin interaction
ENSG00000123358	Chromatin interaction
ENSG00000197713	Chromatin interaction
ENSG00000090273	Chromatin interaction
ENSG00000231721	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv431969	chr2:210682494-211074494	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	esv1795338	chr2:210758078-211098113	Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	esv1802749	chr2:210905194-211255611	Strong transcription ZNF genes & repeats Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	esv3380825	chr2:211035207-211037105	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:211033000-211038000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:211033200-211036800	Active TSS	Stomach Smooth Muscle	stomach
3	chr2:211033200-211037200	Active TSS	iPS-20b Cell Line	embryonic stem cell
4	chr2:211033200-211037400	Active TSS	Right Atrium	heart
5	chr2:211033200-211037800	Active TSS	Fetal Kidney	kidney
6	chr2:211033200-211037800	Active TSS	Thymus	Thymus
7	chr2:211033400-211036400	Active TSS	HMEC	breast
8	chr2:211033400-211037000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr2:211033400-211037200	Active TSS	GM12878-XiMat	blood
10	chr2:211033400-211037800	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr2:211033600-211036800	Active TSS	Fetal Thymus	thymus
12	chr2:211033600-211037000	Active TSS	Fetal Brain Female	brain
13	chr2:211033600-211037200	Active TSS	Aorta	Aorta
14	chr2:211033600-211037400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr2:211033800-211036800	Active TSS	Fetal Muscle Leg	muscle
16	chr2:211033800-211036800	Active TSS	K562	blood
17	chr2:211033800-211036800	Active TSS	NH-A	brain
18	chr2:211033800-211037200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr2:211033800-211037200	Active TSS	Ovary	ovary
20	chr2:211033800-211037400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr2:211033800-211037400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr2:211033800-211037400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr2:211033800-211037400	Active TSS	Psoas Muscle	Psoas
24	chr2:211033800-211037400	Active TSS	HSMMtube	muscle
25	chr2:211033800-211037600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr2:211034000-211036400	Active TSS	Cortex derived primary cultured neurospheres	brain
27	chr2:211034000-211036800	Active TSS	Muscle Satellite Cultured Cells	--
28	chr2:211034000-211036800	Active TSS	Brain Hippocampus Middle	brain
29	chr2:211034000-211036800	Active TSS	NHEK	skin
30	chr2:211034000-211036800	Active TSS	NHLF	lung
31	chr2:211034000-211037000	Active TSS	Brain Inferior Temporal Lobe	brain
32	chr2:211034000-211037000	Active TSS	Rectal Smooth Muscle	rectum
33	chr2:211034000-211037200	Active TSS	Breast Myoepithelial Primary Cells	Breast
34	chr2:211034000-211037400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr2:211034000-211037400	Active TSS	Skeletal Muscle Female	skeletal muscle
36	chr2:211034000-211037400	Active TSS	NHDF-Ad	bronchial
37	chr2:211034000-211037600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr2:211034000-211037800	Active TSS	HUES6 Cell Line	embryonic stem cell
39	chr2:211034200-211036600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr2:211034200-211036800	Active TSS	Adipose Nuclei	Adipose
41	chr2:211034200-211036800	Active TSS	Fetal Stomach	stomach
42	chr2:211034200-211036800	Active TSS	Hela-S3	cervix
43	chr2:211034200-211036800	Active TSS	HUVEC	blood vessel
44	chr2:211034200-211037000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr2:211034200-211037000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr2:211034200-211037000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr2:211034200-211037000	Active TSS	Fetal Intestine Large	intestine
48	chr2:211034200-211037000	Active TSS	Fetal Lung	lung
49	chr2:211034200-211037000	Active TSS	Rectal Mucosa Donor 31	rectum
50	chr2:211034200-211037200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin

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