Variant report

Variant	rs112419076
Chromosome Location	chr2:211036499-211036500
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	ZNF384	chr2:211036257-211036504	GM12878	blood:	n/a	n/a
2	POLR2A	chr2:211034127-211036817	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr2:211034447-211036957	H1-hESC	embryonic stem cell:	n/a	n/a
4	YY1	chr2:211036034-211036639	H1-hESC	embryonic stem cell:	n/a	chr2:211036138-211036152 chr2:211036144-211036158 chr2:211036222-211036236 chr2:211036225-211036234
5	MXI1	chr2:211036074-211036869	GM12878	blood:	n/a	n/a
6	POLR2A	chr2:211034499-211036993	GM19099	blood:	n/a	n/a
7	POLR2A	chr2:211036046-211036514	H1-hESC	embryonic stem cell:	n/a	n/a
8	SIN3AK20	chr2:211036033-211036506	PFSK-1	brain:	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	POLR2A	chr2:211034837-211036540	Hela-S3	cervix:	n/a	n/a
11	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
12	NFIC	chr2:211034886-211036714	SK-N-SH	brain:	n/a	n/a
13	JUND	chr2:211035955-211036570	MCF-7	breast:	n/a	chr2:211035958-211035967
14	POLR2A	chr2:211035922-211036499	PANC-1	pancreas:	n/a	n/a
15	MAX	chr2:211035980-211036601	A549	lung:	n/a	chr2:211036141-211036151
16	POLR2A	chr2:211035187-211036499	GM10847	blood:	n/a	n/a
17	CTCF	chr2:211036360-211036510	GM12864	blood:	n/a	n/a
18	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
19	EP300	chr2:211036088-211036570	K562	blood:	n/a	chr2:211036088-211036104
20	RCOR1	chr2:211034855-211036780	HepG2	liver:	n/a	n/a
21	POLR2A	chr2:211034740-211036688	SK-N-MC	brain:	n/a	n/a
22	SMC3	chr2:211036114-211036881	Hela-S3	cervix:	n/a	chr2:211036218-211036232 chr2:211036222-211036232
23	POLR2A	chr2:211034610-211036577	HUVEC	blood vessel:	n/a	n/a
24	PBX3	chr2:211035865-211036549	SK-N-SH	brain:	n/a	n/a
25	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
26	POLR2A	chr2:211034490-211036807	GM19193	blood:	n/a	n/a
27	ZNF143	chr2:211035174-211036543	GM12878	blood:	n/a	chr2:211035962-211035980 chr2:211036127-211036145 chr2:211035617-211035635
28	POLR2A	chr2:211034415-211036988	GM18951	blood:	n/a	n/a
29	KAP1	chr2:211036200-211036975	HEK293	kidney:	n/a	n/a
30	MAX	chr2:211034957-211036988	HepG2	liver:	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
31	BHLHE40	chr2:211034818-211036612	K562	blood:	n/a	chr2:211035570-211035583 chr2:211036081-211036097 chr2:211036220-211036236
32	TAF1	chr2:211035110-211036538	ECC-1	luminal epithelium:	n/a	n/a
33	MYC	chr2:211034929-211036574	K562	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
34	MYC	chr2:211036057-211036533	MCF10A-Er-Src	breast:	n/a	chr2:211036141-211036151
35	YY1	chr2:211035330-211036538	HepG2	liver:	n/a	chr2:211035892-211035901 chr2:211036138-211036152 chr2:211036144-211036158 chr2:211036222-211036236 chr2:211035802-211035813 chr2:211035895-211035906 chr2:211036225-211036234
36	POLR2A	chr2:211034793-211036608	U87	brain:	n/a	n/a
37	MXI1	chr2:211035795-211036639	Hela-S3	cervix:	n/a	n/a
38	MAX	chr2:211036031-211036695	SK-N-SH	brain:	n/a	chr2:211036141-211036151
39	SETDB1	chr2:211036310-211036924	U2OS	brain:	n/a	n/a
40	BACH1	chr2:211036201-211036654	H1-hESC	embryonic stem cell:	n/a	n/a
41	RELA	chr2:211035005-211036875	GM18951	blood:	n/a	chr2:211036212-211036221 chr2:211036212-211036221
42	POLR2A	chr2:211036026-211036526	SK-N-MC	brain:	n/a	n/a
43	JUN	chr2:211036489-211036841	K562	blood:	n/a	n/a
44	E2F6	chr2:211036023-211036815	A549	lung:	n/a	chr2:211036229-211036239 chr2:211036225-211036234 chr2:211036204-211036216
45	TCF7L2	chr2:211036166-211037003	Hela-S3	cervix:	n/a	n/a
46	MAX	chr2:211035264-211036584	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 chr2:211036141-211036151 chr2:211035504-211035517 chr2:211035504-211035517 chr2:211035505-211035516
47	EBF1	chr2:211035223-211036555	GM12878	blood:	n/a	n/a
48	RELA	chr2:211034712-211036942	GM15510	blood:	n/a	chr2:211036212-211036221 chr2:211036212-211036221
49	POLR2A	chr2:211034433-211037263	MCF10A-Er-Src	breast:	n/a	n/a
50	E2F6	chr2:211035990-211036553	H1-hESC	embryonic stem cell:	n/a	chr2:211036229-211036239 chr2:211036225-211036234 chr2:211036204-211036216

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:211036478-211036528	HPAEpiC	pulmonary alveolar:	n/a
2	chr2:211036478-211036528	GM12891	blood:	n/a
3	chr2:211036478-211036528	K562	blood:	n/a
4	chr2:211036478-211036528	ProgFib	skin:	n/a
5	chr2:211036478-211036528	HepG2	liver:	n/a
6	chr2:211036478-211036528	SAEC	small airway:	n/a
7	chr2:211036478-211036528	HL-60	blood:	n/a
8	chr2:211036478-211036528	MCF-7	breast:	n/a
9	chr2:211036478-211036528	NB4	blood:	n/a
10	chr2:211036478-211036528	NT2-D1	testis:	n/a
11	chr2:211036478-211036528	ECC-1	luminal epithelium:	n/a
12	chr2:211036478-211036528	PANC-1	pancreas:	n/a
13	chr2:211036478-211036528	A549	lung:	n/a
14	chr2:211036478-211036528	SK-N-SH	brain:	n/a
15	chr2:211036478-211036528	AG09319	gingival:	n/a
16	chr2:211036478-211036528	ovcar-3	ovarian:	n/a
17	chr2:211036478-211036528	HAEpiC	amniotic membrane:	n/a
18	chr2:211036478-211036528	AoSMC	blood vessel:	n/a
19	chr2:211036478-211036528	HRPEpiC	eye:	n/a
20	chr2:211036478-211036528	Hepatocyte	liver:	n/a
21	chr2:211036478-211036528	SKMC	muscle:	n/a
22	chr2:211036478-211036528	HCM	heart:	n/a
23	chr2:211036478-211036528	RPTEC	kidney:	n/a
24	chr2:211036478-211036528	SK-N-MC	brain:	n/a
25	chr2:211036478-211036528	HIPEpiC	eye:	n/a
26	chr2:211036478-211036528	Jurkat	blood:	n/a
27	chr2:211036478-211036528	HCT-116	colon:	n/a
28	chr2:211036478-211036528	HCPEpiC	choroid plexus:	n/a
29	chr2:211036478-211036528	GM12892	blood:	n/a
30	chr2:211036478-211036528	PrEC	prostate:	n/a
31	chr2:211036478-211036528	HNPCEpiC	eye:	n/a
32	chr2:211036478-211036528	HUVEC	blood vessel:	n/a
33	chr2:211036478-211036528	H1-hESC	embryonic stem cell:	embryo
34	chr2:211036478-211036528	HRCEpiC	kidney:	n/a
35	chr2:211036478-211036528	BJ	skin:	n/a
36	chr2:211036478-211036528	GM12878	blood:	n/a
37	chr2:211036478-211036528	AG10803	skin:	n/a
38	chr2:211036478-211036528	PFSK-1	brain:	n/a
39	chr2:211036478-211036528	Caco-2	colon:	n/a
40	chr2:211036478-211036528	NHBE	bronchial:	n/a
41	chr2:211036478-211036528	HCF	heart:	n/a
42	chr2:211036478-211036528	NHDF-neo	bronchial:	n/a
43	chr2:211036478-211036528	T-47D	breast:	n/a
44	chr2:211036478-211036528	AG09309	skin:	n/a
45	chr2:211036478-211036528	SK-N-SH_RA	brain:	n/a
46	chr2:211036478-211036528	BE2_C	brain:	n/a
47	chr2:211036478-211036528	IMR90	lung:	fetal
48	chr2:211036478-211036528	HMEC	breast:	n/a
49	chr2:211036478-211036528	HRE	kidney:	n/a
50	chr2:211036478-211036528	NH-A	brain:	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	chr2:208633171..208635747-chr2:211035528..211037623,2	MCF-7	breast:
5	chr2:210865937..210867928-chr2:211034610..211037287,3	MCF-7	breast:
6	chr2:210813951..210816642-chr2:211034382..211037269,2	K562	blood:
7	chr2:210866819..210868675-chr2:211034282..211036994,3	K562	blood:
8	chr2:211032641..211035129-chr2:211036259..211038578,2	MCF-7	breast:

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

Variant related genes	Relation type
ENSG00000263530	TF binding region
KANSL1L	TF binding region
KANSL1L	CpG island
ENSG00000263530	CpG island
ENSG00000123358	Chromatin interaction
ENSG00000197713	Chromatin interaction
ENSG00000163251	Chromatin interaction
ENSG00000144406	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	chr2:211033400-211037000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr2:211033400-211037200	Active TSS	GM12878-XiMat	blood
9	chr2:211033400-211037800	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr2:211033600-211036800	Active TSS	Fetal Thymus	thymus
11	chr2:211033600-211037000	Active TSS	Fetal Brain Female	brain
12	chr2:211033600-211037200	Active TSS	Aorta	Aorta
13	chr2:211033600-211037400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr2:211033800-211036800	Active TSS	Fetal Muscle Leg	muscle
15	chr2:211033800-211036800	Active TSS	K562	blood
16	chr2:211033800-211036800	Active TSS	NH-A	brain
17	chr2:211033800-211037200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr2:211033800-211037200	Active TSS	Ovary	ovary
19	chr2:211033800-211037400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr2:211033800-211037400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr2:211033800-211037400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr2:211033800-211037400	Active TSS	Psoas Muscle	Psoas
23	chr2:211033800-211037400	Active TSS	HSMMtube	muscle
24	chr2:211033800-211037600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr2:211034000-211036800	Active TSS	Muscle Satellite Cultured Cells	--
26	chr2:211034000-211036800	Active TSS	Brain Hippocampus Middle	brain
27	chr2:211034000-211036800	Active TSS	NHEK	skin
28	chr2:211034000-211036800	Active TSS	NHLF	lung
29	chr2:211034000-211037000	Active TSS	Brain Inferior Temporal Lobe	brain
30	chr2:211034000-211037000	Active TSS	Rectal Smooth Muscle	rectum
31	chr2:211034000-211037200	Active TSS	Breast Myoepithelial Primary Cells	Breast
32	chr2:211034000-211037400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr2:211034000-211037400	Active TSS	Skeletal Muscle Female	skeletal muscle
34	chr2:211034000-211037400	Active TSS	NHDF-Ad	bronchial
35	chr2:211034000-211037600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr2:211034000-211037800	Active TSS	HUES6 Cell Line	embryonic stem cell
37	chr2:211034200-211036600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr2:211034200-211036800	Active TSS	Adipose Nuclei	Adipose
39	chr2:211034200-211036800	Active TSS	Fetal Stomach	stomach
40	chr2:211034200-211036800	Active TSS	Hela-S3	cervix
41	chr2:211034200-211036800	Active TSS	HUVEC	blood vessel
42	chr2:211034200-211037000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr2:211034200-211037000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr2:211034200-211037000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr2:211034200-211037000	Active TSS	Fetal Intestine Large	intestine
46	chr2:211034200-211037000	Active TSS	Fetal Lung	lung
47	chr2:211034200-211037000	Active TSS	Rectal Mucosa Donor 31	rectum
48	chr2:211034200-211037200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr2:211034200-211037200	Active TSS	Stomach Mucosa	stomach
50	chr2:211034200-211037400	Active TSS	Duodenum Smooth Muscle	Duodenum

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