Variant report

Variant	rs145091543
Chromosome Location	chr2:211036251-211036252
allele	A/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	IRF1	chr2:211036054-211036465	K562	blood:	n/a	chr2:211036140-211036154 chr2:211036224-211036238 chr2:211036159-211036168
2	CTCF	chr2:211036180-211036330	HUVEC	blood vessel:	n/a	chr2:211036219-211036232
3	USF1	chr2:211034930-211036467	HCT-116	colon:	n/a	chr2:211035505-211035516 chr2:211035570-211035583 chr2:211036081-211036097 chr2:211036220-211036236
4	TAF1	chr2:211035335-211036393	HepG2	liver:	n/a	n/a
5	POLR2A	chr2:211034127-211036817	MCF10A-Er-Src	breast:	n/a	n/a
6	POLR2A	chr2:211034447-211036957	H1-hESC	embryonic stem cell:	n/a	n/a
7	TAF1	chr2:211035278-211036475	H1-neurons	neurons:	n/a	n/a
8	ZNF143	chr2:211036144-211036440	H1-hESC	embryonic stem cell:	n/a	n/a
9	YY1	chr2:211036034-211036639	H1-hESC	embryonic stem cell:	n/a	chr2:211036138-211036152 chr2:211036144-211036158 chr2:211036222-211036236 chr2:211036225-211036234
10	SIN3AK20	chr2:211036188-211036355	PFSK-1	brain:	n/a	n/a
11	MXI1	chr2:211036074-211036869	GM12878	blood:	n/a	n/a
12	POLR2A	chr2:211034499-211036993	GM19099	blood:	n/a	n/a
13	TAF1	chr2:211035957-211036470	ECC-1	luminal epithelium:	n/a	n/a
14	POLR2A	chr2:211036046-211036514	H1-hESC	embryonic stem cell:	n/a	n/a
15	SIN3AK20	chr2:211036033-211036506	PFSK-1	brain:	n/a	n/a
16	CCNT2	chr2:211035093-211036611	K562	blood:	n/a	chr2:211036173-211036182 chr2:211035598-211035607 chr2:211036225-211036234 chr2:211035564-211035573
17	HDAC2	chr2:211036037-211036443	HepG2	liver:	n/a	n/a
18	POLR2A	chr2:211034837-211036540	Hela-S3	cervix:	n/a	n/a
19	POLR2A	chr2:211035085-211036488	HEK293	kidney:	n/a	n/a
20	POLR2A	chr2:211035043-211036491	K562	blood:	n/a	n/a
21	POLR2A	chr2:211035239-211036403	HUVEC	blood vessel:	n/a	n/a
22	SP1	chr2:211035993-211036559	A549	lung:	n/a	chr2:211036225-211036235 chr2:211036140-211036152 chr2:211036137-211036150 chr2:211036141-211036150 chr2:211036224-211036236 chr2:211036158-211036179 chr2:211036172-211036184 chr2:211036140-211036152 chr2:211036141-211036151 chr2:211036142-211036151 chr2:211036224-211036236 chr2:211036221-211036235 chr2:211036174-211036183 chr2:211036141-211036151 chr2:211036225-211036235 chr2:211036172-211036184 chr2:211036120-211036133 chr2:211036226-211036235 chr2:211036225-211036234 chr2:211036173-211036183 chr2:211036173-211036182 chr2:211036226-211036235
23	NFIC	chr2:211034886-211036714	SK-N-SH	brain:	n/a	n/a
24	USF1	chr2:211036024-211036405	SK-N-SH	brain:	n/a	chr2:211036081-211036097 chr2:211036220-211036236
25	FOXA1	chr2:211035321-211036456	HepG2	liver:	n/a	n/a
26	STAT3	chr2:211036084-211036272	MCF10A-Er-Src	breast:	n/a	chr2:211036175-211036187
27	EGR1	chr2:211036075-211036339	H1-hESC	embryonic stem cell:	n/a	chr2:211036225-211036235 chr2:211036141-211036151
28	JUND	chr2:211035955-211036570	MCF-7	breast:	n/a	chr2:211035958-211035967
29	POLR2A	chr2:211035071-211036472	HepG2	liver:	n/a	n/a
30	RCOR1	chr2:211036176-211036366	K562	blood:	n/a	n/a
31	POLR2A	chr2:211035922-211036499	PANC-1	pancreas:	n/a	n/a
32	MAX	chr2:211035980-211036601	A549	lung:	n/a	chr2:211036141-211036151
33	POLR2A	chr2:211035187-211036499	GM10847	blood:	n/a	n/a
34	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
35	EP300	chr2:211036088-211036570	K562	blood:	n/a	chr2:211036088-211036104
36	TAF1	chr2:211035346-211036371	HepG2	liver:	n/a	n/a
37	RCOR1	chr2:211034855-211036780	HepG2	liver:	n/a	n/a
38	POLR2A	chr2:211034740-211036688	SK-N-MC	brain:	n/a	n/a
39	MYC	chr2:211036238-211036343	MCF-7	breast:	n/a	n/a
40	POLR2A	chr2:211036015-211036490	U87	brain:	n/a	n/a
41	JUND	chr2:211036090-211036377	H1-hESC	embryonic stem cell:	n/a	n/a
42	RCOR1	chr2:211035168-211036352	GM12878	blood:	n/a	n/a
43	SMC3	chr2:211036114-211036881	Hela-S3	cervix:	n/a	chr2:211036218-211036232 chr2:211036222-211036232
44	SP4	chr2:211036024-211036471	H1-hESC	embryonic stem cell:	n/a	chr2:211036222-211036238 chr2:211036138-211036154 chr2:211036136-211036152 chr2:211036220-211036236
45	POLR2A	chr2:211035973-211036388	HepG2	liver:	n/a	n/a
46	POLR2A	chr2:211034610-211036577	HUVEC	blood vessel:	n/a	n/a
47	YY1	chr2:211036048-211036366	H1-hESC	embryonic stem cell:	n/a	chr2:211036138-211036152 chr2:211036144-211036158 chr2:211036222-211036236 chr2:211036225-211036234
48	JUND	chr2:211036009-211036348	HepG2	liver:	n/a	n/a
49	POLR2A	chr2:211034949-211036386	GM12878	blood:	n/a	n/a
50	PBX3	chr2:211035865-211036549	SK-N-SH	brain:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:211036230-211036280	AG10803	skin:	n/a
2	chr2:211036230-211036280	HAEpiC	amniotic membrane:	n/a
3	chr2:211036230-211036280	SK-N-SH_RA	brain:	n/a
4	chr2:211036230-211036280	IMR90	lung:	fetal
5	chr2:211036230-211036280	HCM	heart:	n/a
6	chr2:211036230-211036280	HUVEC	blood vessel:	n/a
7	chr2:211036230-211036280	AG09319	gingival:	n/a
8	chr2:211036230-211036280	MCF-7	breast:	n/a
9	chr2:211036230-211036280	SK-N-SH	brain:	n/a
10	chr2:211036230-211036280	ovcar-3	ovarian:	n/a
11	chr2:211036230-211036280	GM12892	blood:	n/a
12	chr2:211036230-211036280	MCF10A-Er-Src	breast:	n/a
13	chr2:211036230-211036280	LNCaP	prostate:	n/a
14	chr2:211036230-211036280	Hela-S3	cervix:	n/a
15	chr2:211036230-211036280	HCPEpiC	choroid plexus:	n/a
16	chr2:211036230-211036280	T-47D	breast:	n/a
17	chr2:211036230-211036280	NHDF-neo	bronchial:	n/a
18	chr2:211036230-211036280	GM06990	blood:	n/a
19	chr2:211036230-211036280	HMEC	breast:	n/a
20	chr2:211036230-211036280	HRE	kidney:	n/a
21	chr2:211036230-211036280	SK-N-MC	brain:	n/a
22	chr2:211036230-211036280	NB4	blood:	n/a
23	chr2:211036230-211036280	ProgFib	skin:	n/a
24	chr2:211036230-211036280	PrEC	prostate:	n/a
25	chr2:211036230-211036280	NHBE	bronchial:	n/a
26	chr2:211036230-211036280	PANC-1	pancreas:	n/a
27	chr2:211036230-211036280	HIPEpiC	eye:	n/a
28	chr2:211036230-211036280	RPTEC	kidney:	n/a
29	chr2:211036230-211036280	GM12878	blood:	n/a
30	chr2:211036230-211036280	HCF	heart:	n/a
31	chr2:211036230-211036280	HNPCEpiC	eye:	n/a
32	chr2:211036230-211036280	HRPEpiC	eye:	n/a
33	chr2:211036230-211036280	NT2-D1	testis:	n/a
34	chr2:211036230-211036280	BJ	skin:	n/a
35	chr2:211036230-211036280	GM12891	blood:	n/a
36	chr2:211036230-211036280	AG09309	skin:	n/a
37	chr2:211036230-211036280	AG04449	skin:	fetal
38	chr2:211036230-211036280	SAEC	small airway:	n/a
39	chr2:211036230-211036280	Jurkat	blood:	n/a
40	chr2:211036230-211036280	U87	brain:	n/a
41	chr2:211036230-211036280	SKMC	muscle:	n/a
42	chr2:211036230-211036280	HEK293	kidney:	embryo
43	chr2:211036230-211036280	HCT-116	colon:	n/a
44	chr2:211036230-211036280	H1-hESC	embryonic stem cell:	embryo
45	chr2:211036230-211036280	HepG2	liver:	n/a
46	chr2:211036230-211036280	HRCEpiC	kidney:	n/a
47	chr2:211036230-211036280	BE2_C	brain:	n/a
48	chr2:211036230-211036280	NH-A	brain:	n/a
49	chr2:211036230-211036280	HL-60	blood:	n/a
50	chr2:211036230-211036280	HEEpiC	esophagus:	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:210866282..210870548-chr2:211034114..211037570,6	MCF-7	breast:
2	chr12:52445112..52445895-chr2:211035711..211036692,2	Hela-S3	cervix:
3	chr2:210866819..210870543-chr2:211034282..211037464,4	K562	blood:
4	chr2:211035339..211036285-chr7:130794370..130795172,2	Hela-S3	cervix:
5	chr2:208633171..208635747-chr2:211035528..211037623,2	MCF-7	breast:
6	chr2:210865937..210867928-chr2:211034610..211037287,3	MCF-7	breast:
7	chr2:210813951..210816642-chr2:211034382..211037269,2	K562	blood:
8	chr2:210866819..210868675-chr2:211034282..211036994,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RPE-2	chr2:211036242-211036553	ENSG00000231294.1

Variant related genes	Relation type
KANSL1L	TF binding region
ENSG00000263530	TF binding region
ENSG00000263530	CpG island
KANSL1L	CpG island
ENSG00000123358	Chromatin interaction
ENSG00000231721	Chromatin interaction
ENSG00000144406	Chromatin interaction
ENSG00000197713	Chromatin interaction
ENSG00000128585	Chromatin interaction
ENSG00000163251	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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