Variant report

Variant	rs552473729
Chromosome Location	chr2:86851145-86851146
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	TEAD4	chr2:86850844-86851414	HepG2	liver:	n/a	n/a
2	MAX	chr2:86850630-86851413	ECC-1	luminal epithelium:	n/a	n/a
3	POLR2A	chr2:86849738-86851284	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr2:86850724-86851218	HepG2	liver:	n/a	n/a
5	CREB1	chr2:86850766-86851215	H1-hESC	embryonic stem cell:	n/a	n/a
6	TAF1	chr2:86850049-86851270	HepG2	liver:	n/a	n/a
7	PML	chr2:86849582-86851472	GM12878	blood:	n/a	n/a
8	CHD2	chr2:86849581-86851301	Hela-S3	cervix:	n/a	chr2:86850312-86850322 chr2:86851099-86851109 chr2:86850188-86850198
9	MBD4	chr2:86850998-86851447	HepG2	liver:	n/a	n/a
10	MAX	chr2:86850680-86851360	SK-N-SH	brain:	n/a	n/a
11	GATA2	chr2:86850685-86851274	SH-SY5Y	brain:	n/a	n/a
12	POLR2A	chr2:86850082-86851293	HepG2	liver:	n/a	n/a
13	TAF1	chr2:86849786-86851279	H1-hESC	embryonic stem cell:	n/a	n/a
14	STAT3	chr2:86851143-86851346	MCF10A-Er-Src	breast:	n/a	n/a
15	JUND	chr2:86849980-86851278	A549	lung:	n/a	chr2:86850699-86850708 chr2:86851157-86851171 chr2:86850717-86850726
16	SIN3AK20	chr2:86849975-86851208	PANC-1	pancreas:	n/a	n/a
17	TBP	chr2:86850771-86851307	HepG2	liver:	n/a	n/a
18	POLR2A	chr2:86849605-86851303	GM19193	blood:	n/a	n/a
19	MXI1	chr2:86849945-86851355	GM12878	blood:	n/a	n/a
20	E2F6	chr2:86849947-86851694	K562	blood:	n/a	chr2:86851018-86851028 chr2:86851097-86851108 chr2:86851049-86851061 chr2:86850621-86850631 chr2:86850454-86850463
21	YY1	chr2:86849802-86851213	GM12892	blood:	n/a	chr2:86851009-86851020 chr2:86850624-86850638
22	POLR2A	chr2:86849959-86851214	HUVEC	blood vessel:	n/a	n/a
23	MTA3	chr2:86851042-86851400	GM12878	blood:	n/a	n/a
24	POLR2A	chr2:86849673-86851504	NB4	blood:	n/a	n/a
25	RFX5	chr2:86850690-86851274	HepG2	liver:	n/a	n/a
26	TCF12	chr2:86850563-86851527	A549	lung:	n/a	n/a
27	MAZ	chr2:86850786-86851317	HepG2	liver:	n/a	n/a
28	HEY1	chr2:86849820-86851580	HepG2	liver:	n/a	chr2:86850693-86850708 chr2:86850664-86850679 chr2:86851009-86851024 chr2:86851063-86851078
29	CTCF	chr2:86851125-86851320	K562	blood:	n/a	n/a
30	TAF1	chr2:86850612-86851294	A549	lung:	n/a	n/a
31	HEY1	chr2:86850150-86851283	HepG2	liver:	n/a	chr2:86850693-86850708 chr2:86850664-86850679 chr2:86851009-86851024 chr2:86851063-86851078
32	ZBTB7A	chr2:86850929-86851239	HepG2	liver:	n/a	n/a
33	REST	chr2:86849669-86851536	H1-neurons	neurons:	n/a	chr2:86850625-86850638 chr2:86850312-86850325
34	EGR1	chr2:86850574-86851381	HCT-116	colon:	n/a	chr2:86850908-86850918 chr2:86850903-86850918 chr2:86850717-86850727 chr2:86850905-86850914 chr2:86850634-86850641 chr2:86850901-86850915 chr2:86851044-86851057
35	POLR2A	chr2:86849571-86851319	Hela-S3	cervix:	n/a	n/a
36	HA-E2F1	chr2:86849785-86851416	MCF-7	breast:	n/a	chr2:86851018-86851028 chr2:86851049-86851061 chr2:86850621-86850631 chr2:86850454-86850463
37	POLR2A	chr2:86850790-86851330	K562	blood:	n/a	n/a
38	ETS1	chr2:86850569-86851259	A549	lung:	n/a	chr2:86851065-86851078
39	MAX	chr2:86850685-86851519	A549	lung:	n/a	n/a
40	POLR2A	chr2:86850779-86851288	HepG2	liver:	n/a	n/a
41	JUND	chr2:86850709-86851250	K562	blood:	n/a	chr2:86851157-86851171 chr2:86850717-86850726
42	POLR2A	chr2:86850694-86851283	HepG2	liver:	n/a	n/a
43	MAX	chr2:86850553-86851368	SK-N-SH	brain:	n/a	n/a
44	TAF1	chr2:86850365-86851161	H1-hESC	embryonic stem cell:	n/a	n/a
45	HDAC2	chr2:86850284-86851250	HepG2	liver:	n/a	n/a
46	CUX1	chr2:86851052-86851580	K562	blood:	n/a	n/a
47	HEY1	chr2:86850277-86851337	K562	blood:	n/a	chr2:86850693-86850708 chr2:86850664-86850679 chr2:86851009-86851024 chr2:86851063-86851078
48	E2F4	chr2:86850352-86851313	MCF10A-Er-Src	breast:	n/a	chr2:86851018-86851028 chr2:86851049-86851061 chr2:86850621-86850631 chr2:86851050-86851061 chr2:86850454-86850463
49	POLR2A	chr2:86850013-86851236	A549	lung:	n/a	n/a
50	MXI1	chr2:86848131-86851749	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:86849761..86852664-chr2:86946875..86949825,4	MCF-7	breast:
2	chr2:86667874..86671580-chr2:86848738..86852940,5	K562	blood:
3	chr2:86676152..86678942-chr2:86849820..86852421,2	MCF-7	breast:
4	chr2:86849205..86851980-chr4:103788532..103791480,2	MCF-7	breast:
5	chr2:86849813..86851532-chr9:114391747..114393838,2	MCF-7	breast:
6	chr2:86850777..86851624-chr8:145550290..145550908,2	HCT-116	colon:
7	chr10:106097756..106098806-chr2:86850676..86851290,3	Hela-S3	cervix:
8	chr2:86850136..86852379-chr2:86973884..86976847,2	K562	blood:
9	chr2:86848500..86851973-chr2:86945425..86949651,4	MCF-7	breast:
10	chr2:86839004..86842325-chr2:86847581..86852030,6	MCF-7	breast:
11	chr2:86669498..86671776-chr2:86849448..86851643,2	MCF-7	breast:
12	chr2:86787885..86791617-chr2:86846945..86852237,10	MCF-7	breast:

Variant related genes	Relation type
RNF103-CHMP3	TF binding region
RNF103	TF binding region
ENSG00000239305	Chromatin interaction
ENSG00000115548	Chromatin interaction
ENSG00000148841	Chromatin interaction
ENSG00000153561	Chromatin interaction
ENSG00000185000	Chromatin interaction
ENSG00000115561	Chromatin interaction
ENSG00000145354	Chromatin interaction
ENSG00000109332	Chromatin interaction
ENSG00000228363	Chromatin interaction
ENSG00000244115	Chromatin interaction
ENSG00000249884	Chromatin interaction
ENSG00000059769	Chromatin interaction
ENSG00000204173	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3412938	chr2:86370969-86867936	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
2	nsv532724	chr2:86622295-87086407	Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv1011590	chr2:86824181-86906114	Active TSS Strong transcription Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	esv3498261	chr2:86849516-86851839	Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases
5	esv3498262	chr2:86849516-86851839	Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases
6	esv3404473	chr2:86849666-86852214	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases
7	nsv436305	chr2:86849862-86854021	Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86847200-86851200	Active TSS	Duodenum Mucosa	Duodenum
2	chr2:86847200-86851400	Active TSS	Right Atrium	heart
3	chr2:86847400-86851600	Active TSS	Right Ventricle	heart
4	chr2:86847600-86851200	Active TSS	GM12878-XiMat	blood
5	chr2:86847600-86851400	Active TSS	Stomach Smooth Muscle	stomach
6	chr2:86847800-86851200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr2:86847800-86851400	Active TSS	Brain Angular Gyrus	brain
8	chr2:86848000-86851200	Active TSS	Breast Myoepithelial Primary Cells	Breast
9	chr2:86848000-86851200	Active TSS	Fetal Intestine Small	intestine
10	chr2:86848000-86851200	Active TSS	HMEC	breast
11	chr2:86848000-86851400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr2:86848000-86851400	Active TSS	Brain Anterior Caudate	brain
13	chr2:86848000-86851400	Active TSS	Brain Cingulate Gyrus	brain
14	chr2:86848000-86851400	Active TSS	Colon Smooth Muscle	Colon
15	chr2:86848000-86851400	Active TSS	Fetal Brain Female	brain
16	chr2:86848000-86851400	Active TSS	HSMMtube	muscle
17	chr2:86848000-86851600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr2:86848000-86851600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr2:86848200-86851200	Active TSS	HUES6 Cell Line	embryonic stem cell
20	chr2:86848200-86851200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr2:86848200-86851200	Active TSS	Fetal Intestine Large	intestine
22	chr2:86848200-86851200	Active TSS	Fetal Muscle Leg	muscle
23	chr2:86848200-86851200	Active TSS	Fetal Stomach	stomach
24	chr2:86848200-86851200	Active TSS	Skeletal Muscle Male	skeletal muscle
25	chr2:86848200-86851200	Active TSS	Stomach Mucosa	stomach
26	chr2:86848200-86851400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr2:86848200-86851400	Active TSS	Colonic Mucosa	Colon
28	chr2:86848200-86851400	Active TSS	Left Ventricle	heart
29	chr2:86848200-86851400	Active TSS	Ovary	ovary
30	chr2:86848200-86851400	Active TSS	Psoas Muscle	Psoas
31	chr2:86848200-86851400	Active TSS	HSMM	muscle
32	chr2:86848200-86851600	Active TSS	Aorta	Aorta
33	chr2:86848200-86851600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
34	chr2:86848200-86851600	Active TSS	NH-A	brain
35	chr2:86848400-86851200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr2:86848400-86851200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
37	chr2:86848400-86851200	Active TSS	Fetal Kidney	kidney
38	chr2:86848400-86851200	Active TSS	Rectal Mucosa Donor 31	rectum
39	chr2:86848400-86851200	Active TSS	K562	blood
40	chr2:86848400-86851200	Active TSS	NHDF-Ad	bronchial
41	chr2:86848400-86851400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr2:86848400-86851400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr2:86848400-86851400	Active TSS	Skeletal Muscle Female	skeletal muscle
44	chr2:86848400-86851400	Active TSS	NHLF	lung
45	chr2:86848400-86851600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr2:86848400-86851600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr2:86848400-86851600	Active TSS	Fetal Muscle Trunk	muscle
48	chr2:86848400-86851600	Active TSS	Rectal Smooth Muscle	rectum
49	chr2:86848600-86851200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
50	chr2:86848600-86851200	Active TSS	Primary T killer memory cells from peripheral blood	blood

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