Variant report

Variant	rs552450463
Chromosome Location	chr2:211035380-211035381
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	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	TEAD4	chr2:211034942-211035397	H1-hESC	embryonic stem cell:	n/a	n/a
7	KAP1	chr2:211034772-211035485	HEK293	kidney:	n/a	n/a
8	ZNF143	chr2:211035108-211035518	K562	blood:	n/a	n/a
9	TAF1	chr2:211035278-211036475	H1-neurons	neurons:	n/a	n/a
10	CEBPB	chr2:211035233-211035699	HepG2	liver:	n/a	n/a
11	USF1	chr2:211035014-211035934	HCT-116	colon:	n/a	chr2:211035505-211035516 chr2:211035570-211035583
12	POLR2A	chr2:211034499-211036993	GM19099	blood:	n/a	n/a
13	MBD4	chr2:211034796-211035648	HepG2	liver:	n/a	n/a
14	ARID3A	chr2:211034666-211035725	HepG2	liver:	n/a	n/a
15	CCNT2	chr2:211035093-211036611	K562	blood:	n/a	chr2:211036173-211036182 chr2:211035598-211035607 chr2:211036225-211036234 chr2:211035564-211035573
16	USF1	chr2:211035109-211035895	ECC-1	luminal epithelium:	n/a	chr2:211035505-211035516 chr2:211035570-211035583
17	POLR2A	chr2:211034837-211036540	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr2:211035145-211035657	GM12891	blood:	n/a	n/a
19	TCF7L2	chr2:211034975-211035594	PANC-1	pancreas:	n/a	n/a
20	POLR2A	chr2:211035085-211036488	HEK293	kidney:	n/a	n/a
21	POLR2A	chr2:211035043-211036491	K562	blood:	n/a	n/a
22	POLR2A	chr2:211035239-211036403	HUVEC	blood vessel:	n/a	n/a
23	JUND	chr2:211035000-211035840	H1-hESC	embryonic stem cell:	n/a	n/a
24	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
25	MXI1	chr2:211034611-211035874	GM12878	blood:	n/a	chr2:211035505-211035514 chr2:211035573-211035582
26	PML	chr2:211035014-211035815	K562	blood:	n/a	n/a
27	NFIC	chr2:211034886-211036714	SK-N-SH	brain:	n/a	n/a
28	HEY1	chr2:211035037-211035612	K562	blood:	n/a	n/a
29	FOXA1	chr2:211035321-211036456	HepG2	liver:	n/a	n/a
30	USF1	chr2:211035248-211035784	A549	lung:	n/a	chr2:211035505-211035516 chr2:211035570-211035583
31	PBX3	chr2:211034953-211035691	SK-N-SH	brain:	n/a	n/a
32	TBL1XR1	chr2:211035065-211035825	K562	blood:	n/a	n/a
33	POLR2A	chr2:211035071-211036472	HepG2	liver:	n/a	n/a
34	FOS	chr2:211034413-211035619	MCF10A-Er-Src	breast:	n/a	chr2:211034532-211034544
35	STAT5A	chr2:211035048-211035533	GM12878	blood:	n/a	n/a
36	STAT1	chr2:211035243-211035857	GM12878	blood:	n/a	chr2:211035616-211035628 chr2:211035791-211035803
37	TEAD4	chr2:211034864-211035495	SK-N-SH	brain:	n/a	n/a
38	TAF1	chr2:211035367-211035571	GM12891	blood:	n/a	n/a
39	TCF7L2	chr2:211035019-211035566	MCF-7	breast:	n/a	n/a
40	MYC	chr2:211035122-211035586	H1-hESC	embryonic stem cell:	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
41	POLR2A	chr2:211035187-211036499	GM10847	blood:	n/a	n/a
42	GTF2F1	chr2:211034786-211035645	Hela-S3	cervix:	n/a	n/a
43	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
44	POLR2A	chr2:211034998-211035528	SK-N-SH	brain:	n/a	n/a
45	TAF1	chr2:211035346-211036371	HepG2	liver:	n/a	n/a
46	RCOR1	chr2:211034855-211036780	HepG2	liver:	n/a	n/a
47	POLR2A	chr2:211034740-211036688	SK-N-MC	brain:	n/a	n/a
48	POLR2A	chr2:211034961-211035981	Hela-S3	cervix:	n/a	n/a
49	RCOR1	chr2:211035168-211036352	GM12878	blood:	n/a	n/a
50	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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:211035360-211035410	K562	blood:	n/a
2	chr2:211035360-211035410	BJ	skin:	n/a
3	chr2:211035360-211035410	HUVEC	blood vessel:	n/a
4	chr2:211035360-211035410	GM12891	blood:	n/a
5	chr2:211035360-211035410	ProgFib	skin:	n/a
6	chr2:211035360-211035410	PFSK-1	brain:	n/a
7	chr2:211035360-211035410	HRPEpiC	eye:	n/a
8	chr2:211035360-211035410	Caco-2	colon:	n/a
9	chr2:211035360-211035410	HPAEpiC	pulmonary alveolar:	n/a
10	chr2:211035360-211035410	LNCaP	prostate:	n/a
11	chr2:211035360-211035410	Hela-S3	cervix:	n/a
12	chr2:211035360-211035410	T-47D	breast:	n/a
13	chr2:211035360-211035410	H1-hESC	embryonic stem cell:	embryo
14	chr2:211035360-211035410	AG04449	skin:	fetal
15	chr2:211035360-211035410	NHDF-neo	bronchial:	n/a
16	chr2:211035360-211035410	MCF10A-Er-Src	breast:	n/a
17	chr2:211035360-211035410	ovcar-3	ovarian:	n/a
18	chr2:211035360-211035410	A549	lung:	n/a
19	chr2:211035360-211035410	Jurkat	blood:	n/a
20	chr2:211035360-211035410	AG09309	skin:	n/a
21	chr2:211035360-211035410	SK-N-SH	brain:	n/a
22	chr2:211035360-211035410	SK-N-SH_RA	brain:	n/a
23	chr2:211035360-211035410	HEEpiC	esophagus:	n/a
24	chr2:211035360-211035410	IMR90	lung:	fetal
25	chr2:211035360-211035410	HRE	kidney:	n/a
26	chr2:211035360-211035410	HCM	heart:	n/a
27	chr2:211035360-211035410	MCF-7	breast:	n/a
28	chr2:211035360-211035410	GM12892	blood:	n/a
29	chr2:211035360-211035410	NT2-D1	testis:	n/a
30	chr2:211035360-211035410	PANC-1	pancreas:	n/a
31	chr2:211035360-211035410	CMK	blood:	n/a
32	chr2:211035360-211035410	HNPCEpiC	eye:	n/a
33	chr2:211035360-211035410	HCPEpiC	choroid plexus:	n/a
34	chr2:211035360-211035410	PrEC	prostate:	n/a
35	chr2:211035360-211035410	HAEpiC	amniotic membrane:	n/a
36	chr2:211035360-211035410	HL-60	blood:	n/a
37	chr2:211035360-211035410	NH-A	brain:	n/a
38	chr2:211035360-211035410	SK-N-MC	brain:	n/a
39	chr2:211035360-211035410	HCT-116	colon:	n/a
40	chr2:211035360-211035410	HEK293	kidney:	embryo
41	chr2:211035360-211035410	AG09319	gingival:	n/a
42	chr2:211035360-211035410	U87	brain:	n/a
43	chr2:211035360-211035410	AoSMC	blood vessel:	n/a
44	chr2:211035360-211035410	HCF	heart:	n/a
45	chr2:211035360-211035410	GM12878	blood:	n/a
46	chr2:211035360-211035410	SAEC	small airway:	n/a
47	chr2:211035360-211035410	RPTEC	kidney:	n/a
48	chr2:211035360-211035410	HIPEpiC	eye:	n/a
49	chr2:211035360-211035410	BE2_C	brain:	n/a
50	chr2:211035360-211035410	HMEC	breast:	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	chr2:210866819..210870543-chr2:211034282..211037464,4	K562	blood:
4	chr2:211035339..211036285-chr7:130794370..130795172,2	Hela-S3	cervix:
5	chr13:49821570..49822518-chr2:211035226..211035805,2	NB4	blood:
6	chr2:210865937..210867928-chr2:211034610..211037287,3	MCF-7	breast:
7	chr1:6844290..6845119-chr2:211035227..211035905,2	Hela-S3	cervix:
8	chr2:210813951..210816642-chr2:211034382..211037269,2	K562	blood:
9	chr2:211035016..211035669-chr5:96038518..96039212,2	Hela-S3	cervix:
10	chr1:45987079..45988015-chr2:211035169..211036135,2	Hela-S3	cervix:
11	chr2:210866819..210868675-chr2:211034282..211036994,3	K562	blood:

Variant related genes	Relation type
ENSG00000231294	TF binding region
KANSL1L	TF binding region
KANSL1L	CpG island
ENSG00000231294	CpG island
ENSG00000117450	Chromatin interaction
ENSG00000197713	Chromatin interaction
ENSG00000144406	Chromatin interaction
ENSG00000237436	Chromatin interaction
ENSG00000106392	Chromatin interaction
ENSG00000102543	Chromatin interaction
ENSG00000231721	Chromatin interaction
ENSG00000153113	Chromatin interaction
ENSG00000128585	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	chr2:211033600-211035400	Flanking Active TSS	Primary hematopoietic stem cells	blood
12	chr2:211033600-211036800	Active TSS	Fetal Thymus	thymus
13	chr2:211033600-211037000	Active TSS	Fetal Brain Female	brain
14	chr2:211033600-211037200	Active TSS	Aorta	Aorta
15	chr2:211033600-211037400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr2:211033800-211035600	Active TSS	Brain Germinal Matrix	brain
17	chr2:211033800-211036800	Active TSS	Fetal Muscle Leg	muscle
18	chr2:211033800-211036800	Active TSS	K562	blood
19	chr2:211033800-211036800	Active TSS	NH-A	brain
20	chr2:211033800-211037200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr2:211033800-211037200	Active TSS	Ovary	ovary
22	chr2:211033800-211037400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr2:211033800-211037400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr2:211033800-211037400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr2:211033800-211037400	Active TSS	Psoas Muscle	Psoas
26	chr2:211033800-211037400	Active TSS	HSMMtube	muscle
27	chr2:211033800-211037600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr2:211034000-211036400	Active TSS	Cortex derived primary cultured neurospheres	brain
29	chr2:211034000-211036800	Active TSS	Muscle Satellite Cultured Cells	--
30	chr2:211034000-211036800	Active TSS	Brain Hippocampus Middle	brain
31	chr2:211034000-211036800	Active TSS	NHEK	skin
32	chr2:211034000-211036800	Active TSS	NHLF	lung
33	chr2:211034000-211037000	Active TSS	Brain Inferior Temporal Lobe	brain
34	chr2:211034000-211037000	Active TSS	Rectal Smooth Muscle	rectum
35	chr2:211034000-211037200	Active TSS	Breast Myoepithelial Primary Cells	Breast
36	chr2:211034000-211037400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr2:211034000-211037400	Active TSS	Skeletal Muscle Female	skeletal muscle
38	chr2:211034000-211037400	Active TSS	NHDF-Ad	bronchial
39	chr2:211034000-211037600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr2:211034000-211037800	Active TSS	HUES6 Cell Line	embryonic stem cell
41	chr2:211034200-211035400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr2:211034200-211036600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr2:211034200-211036800	Active TSS	Adipose Nuclei	Adipose
44	chr2:211034200-211036800	Active TSS	Fetal Stomach	stomach
45	chr2:211034200-211036800	Active TSS	Hela-S3	cervix
46	chr2:211034200-211036800	Active TSS	HUVEC	blood vessel
47	chr2:211034200-211037000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr2:211034200-211037000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr2:211034200-211037000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr2:211034200-211037000	Active TSS	Fetal Intestine Large	intestine

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