Variant report

Variant	rs2077443
Chromosome Location	chr2:95523255-95523256
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:56)
CpG islands
(count:0)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:56 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr2:95523200-95523350	SAEC	small airway:	n/a	n/a
2	CTCF	chr2:95523180-95523330	HMEC	breast:	n/a	n/a
3	ELF1	chr2:95523063-95523314	HepG2	liver:	n/a	n/a
4	CTCF	chr2:95523180-95523330	MCF-7	breast:	n/a	n/a
5	CTCF	chr2:95523176-95523280	MCF-7	breast:	n/a	n/a
6	ELF1	chr2:95522985-95523350	K562	blood:	n/a	n/a
7	CTCF	chr2:95523160-95523310	HRE	kidney:	n/a	n/a
8	CTCF	chr2:95523156-95523273	HepG2	liver:	n/a	n/a
9	CTCF	chr2:95523172-95523262	GM12878	blood:	n/a	n/a
10	POLR2A	chr2:95523040-95523262	Hela-S3	cervix:	n/a	n/a
11	CTCF	chr2:95523180-95523330	SAEC	small airway:	n/a	n/a
12	CTCF	chr2:95523128-95523337	LNCaP	prostate:	n/a	n/a
13	CTCF	chr2:95523200-95523350	WERI-Rb-1	eye:	n/a	n/a
14	CTCF	chr2:95523005-95523415	A549	lung:	n/a	n/a
15	IRF4	chr2:95523020-95523315	GM12878	blood:	n/a	n/a
16	HEY1	chr2:95522991-95523303	HepG2	liver:	n/a	chr2:95523195-95523210
17	CTCF	chr2:95523220-95523370	GM12869	blood:	n/a	n/a
18	CTCF	chr2:95523076-95523392	K562	blood:	n/a	n/a
19	CTCF	chr2:95523140-95523290	HEEpiC	esophagus:	n/a	n/a
20	CTCF	chr2:95522996-95523381	A549	lung:	n/a	n/a
21	CTCF	chr2:95523189-95523258	MCF-7	breast:	n/a	n/a
22	CTCF	chr2:95523180-95523330	HRPEpiC	eye:	n/a	n/a
23	CTCF	chr2:95523220-95523370	HEK293	kidney:	n/a	n/a
24	POLR2A	chr2:95523070-95523313	PANC-1	pancreas:	n/a	n/a
25	CTCF	chr2:95523076-95523356	K562	blood:	n/a	n/a
26	CTCF	chr2:95523184-95523275	NHEK	skin:	n/a	n/a
27	CTCF	chr2:95523176-95523283	Pancreas_OC	pancreas:	n/a	n/a
28	ELF1	chr2:95523068-95523339	HepG2	liver:	n/a	n/a
29	POU2F2	chr2:95522628-95524124	GM12878	blood:	n/a	chr2:95523757-95523769
30	SP1	chr2:95522997-95523413	GM12878	blood:	n/a	chr2:95523376-95523385
31	CTCF	chr2:95523180-95523330	A549	lung:	n/a	n/a
32	CTCF	chr2:95523200-95523350	HMEC	breast:	n/a	n/a
33	POLR2A	chr2:95523009-95523279	GM12878	blood:	n/a	n/a
34	ZNF263	chr2:95523133-95523510	HEK293-T-REx	kidney:	n/a	chr2:95523350-95523359
35	HEY1	chr2:95522958-95523278	K562	blood:	n/a	chr2:95523195-95523210
36	CTCF	chr2:95523160-95523310	HepG2	liver:	n/a	n/a
37	CTCF	chr2:95523200-95523350	RPTEC	kidney:	n/a	n/a
38	CTCF	chr2:95523175-95523317	LNCaP	prostate:	n/a	n/a
39	HA-E2F1	chr2:95523073-95523545	MCF-7	breast:	n/a	chr2:95523234-95523243
40	ELF1	chr2:95523048-95523441	GM12878	blood:	n/a	n/a
41	CTCF	chr2:95523186-95523299	MCF-7	breast:	n/a	n/a
42	CTCF	chr2:95523098-95523377	A549	lung:	n/a	n/a
43	CTCF	chr2:95523080-95523365	A549	lung:	n/a	n/a
44	CTCF	chr2:95523220-95523370	HRE	kidney:	n/a	n/a
45	POLR2A	chr2:95523037-95523357	GM12878	blood:	n/a	n/a
46	KAP1	chr2:95523190-95523425	HEK293	kidney:	n/a	n/a
47	TCF12	chr2:95523083-95523294	GM12878	blood:	n/a	n/a
48	PAX5	chr2:95522990-95523313	GM12878	blood:	n/a	n/a
49	CTCF	chr2:95523160-95523297	A549	lung:	n/a	n/a
50	CTCF	chr2:95523152-95523301	MCF-7	breast:	n/a	n/a

No data

Variant related genes	Relation type
ANKRD20A8P	TF binding region

Extended variants
information (count: 26 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10165220	0.80[AMR][1000 genomes];0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10172167	0.86[CHB][hapmap]
rs10180591	0.83[ASN][1000 genomes]
rs10874467	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11164111	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11883879	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12612789	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13414018	0.84[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2004626	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28680439	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34087291	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4555374	0.86[CHB][hapmap]
rs4564804	0.81[CHB][hapmap]
rs4854231	0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4854232	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4854233	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4854234	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4854235	0.80[ASN][1000 genomes]
rs62146933	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6708474	0.86[CHB][hapmap]
rs6736042	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs749308	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9324212	0.86[CHB][hapmap]

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	nsv1000661	chr2:95327875-95739468	Bivalent Enhancer Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	nsv1005016	chr2:95327875-95914467	Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	esv2759075	chr2:95358799-95620108	Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs2077443	CYP4F32P	cis	Esophagus Mucosa	GTEx
rs2077443	AC073464.7	cis	Esophagus Mucosa	GTEx

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:95522400-95523600	Bivalent Enhancer	Fetal Brain Male	brain
2	chr2:95522400-95523800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
3	chr2:95522600-95523400	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr2:95522600-95523600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
5	chr2:95522600-95523800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
6	chr2:95522600-95523800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
7	chr2:95522800-95523400	Active TSS	H9 Cell Line	embryonic stem cell
8	chr2:95522800-95523600	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr2:95522800-95523600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr2:95522800-95523600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
11	chr2:95522800-95523600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
12	chr2:95522800-95523600	Bivalent/Poised TSS	ES-UCSF4 Cell Line	embryonic stem cell
13	chr2:95522800-95523600	Bivalent/Poised TSS	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr2:95522800-95523600	Active TSS	Brain Anterior Caudate	brain
15	chr2:95522800-95523600	Active TSS	Esophagus	oesophagus
16	chr2:95522800-95523600	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
17	chr2:95522800-95523600	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr2:95522800-95523600	Bivalent/Poised TSS	A549	lung
19	chr2:95522800-95523800	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr2:95522800-95523800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr2:95522800-95523800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr2:95522800-95523800	Bivalent/Poised TSS	Fetal Brain Female	brain
23	chr2:95523000-95523400	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr2:95523000-95523400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr2:95523000-95523400	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
26	chr2:95523000-95523400	Bivalent/Poised TSS	Left Ventricle	heart
27	chr2:95523000-95523600	Bivalent Enhancer	Liver	Liver
28	chr2:95523000-95523600	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
29	chr2:95523000-95523600	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
30	chr2:95523000-95523600	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
31	chr2:95523000-95523600	Bivalent/Poised TSS	Psoas Muscle	Psoas
32	chr2:95523000-95523600	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
33	chr2:95523000-95523600	Bivalent/Poised TSS	HepG2	liver
34	chr2:95523000-95523600	Bivalent/Poised TSS	NHEK	skin
35	chr2:95523000-95523800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
36	chr2:95523000-95523800	Active TSS	Dnd41	blood
37	chr2:95523200-95523400	Bivalent Enhancer	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr2:95523200-95523400	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
39	chr2:95523200-95523400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
40	chr2:95523200-95523400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr2:95523200-95523400	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
42	chr2:95523200-95523400	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr2:95523200-95523400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr2:95523200-95523400	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain
45	chr2:95523200-95523400	Bivalent/Poised TSS	Fetal Intestine Large	intestine
46	chr2:95523200-95523400	Weak transcription	Lung	lung
47	chr2:95523200-95523400	Flanking Bivalent TSS/Enh	Ovary	ovary
48	chr2:95523200-95523400	Flanking Active TSS	Right Atrium	heart
49	chr2:95523200-95523400	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
50	chr2:95523200-95523400	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle

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