Variant report

Variant	rs375048280
Chromosome Location	chr2:86850514-86850515
allele	G/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	POLR2A	chr2:86849738-86851284	H1-hESC	embryonic stem cell:	n/a	n/a
2	TAF1	chr2:86850049-86851270	HepG2	liver:	n/a	n/a
3	PML	chr2:86849582-86851472	GM12878	blood:	n/a	n/a
4	CHD2	chr2:86849581-86851301	Hela-S3	cervix:	n/a	chr2:86850312-86850322 chr2:86851099-86851109 chr2:86850188-86850198
5	POLR2A	chr2:86850082-86851293	HepG2	liver:	n/a	n/a
6	TAF1	chr2:86849786-86851279	H1-hESC	embryonic stem cell:	n/a	n/a
7	GABPA	chr2:86850075-86850568	K562	blood:	n/a	chr2:86850311-86850320
8	JUND	chr2:86849980-86851278	A549	lung:	n/a	chr2:86850699-86850708 chr2:86851157-86851171 chr2:86850717-86850726
9	SIN3AK20	chr2:86849975-86851208	PANC-1	pancreas:	n/a	n/a
10	POLR2A	chr2:86850109-86850624	K562	blood:	n/a	n/a
11	POLR2A	chr2:86849605-86851303	GM19193	blood:	n/a	n/a
12	MXI1	chr2:86849945-86851355	GM12878	blood:	n/a	n/a
13	E2F6	chr2:86849947-86851694	K562	blood:	n/a	chr2:86851018-86851028 chr2:86851097-86851108 chr2:86851049-86851061 chr2:86850621-86850631 chr2:86850454-86850463
14	YY1	chr2:86849802-86851213	GM12892	blood:	n/a	chr2:86851009-86851020 chr2:86850624-86850638
15	POLR2A	chr2:86849959-86851214	HUVEC	blood vessel:	n/a	n/a
16	POLR2A	chr2:86849673-86851504	NB4	blood:	n/a	n/a
17	ZEB1	chr2:86850195-86851088	GM12878	blood:	n/a	n/a
18	HEY1	chr2:86849820-86851580	HepG2	liver:	n/a	chr2:86850693-86850708 chr2:86850664-86850679 chr2:86851009-86851024 chr2:86851063-86851078
19	HEY1	chr2:86850150-86851283	HepG2	liver:	n/a	chr2:86850693-86850708 chr2:86850664-86850679 chr2:86851009-86851024 chr2:86851063-86851078
20	REST	chr2:86849669-86851536	H1-neurons	neurons:	n/a	chr2:86850625-86850638 chr2:86850312-86850325
21	POLR2A	chr2:86849571-86851319	Hela-S3	cervix:	n/a	n/a
22	HA-E2F1	chr2:86849785-86851416	MCF-7	breast:	n/a	chr2:86851018-86851028 chr2:86851049-86851061 chr2:86850621-86850631 chr2:86850454-86850463
23	TAF1	chr2:86850365-86851161	H1-hESC	embryonic stem cell:	n/a	n/a
24	HDAC2	chr2:86850284-86851250	HepG2	liver:	n/a	n/a
25	HEY1	chr2:86850277-86851337	K562	blood:	n/a	chr2:86850693-86850708 chr2:86850664-86850679 chr2:86851009-86851024 chr2:86851063-86851078
26	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
27	POLR2A	chr2:86850013-86851236	A549	lung:	n/a	n/a
28	MXI1	chr2:86848131-86851749	SK-N-SH	brain:	n/a	n/a
29	SMARCB1	chr2:86849594-86851228	Hela-S3	cervix:	n/a	n/a
30	POLR2A	chr2:86849657-86851308	K562	blood:	n/a	n/a
31	POLR2A	chr2:86850131-86851321	HEK293	kidney:	n/a	n/a
32	POLR2A	chr2:86849947-86851261	GM12878	blood:	n/a	n/a
33	HEY1	chr2:86850244-86851291	K562	blood:	n/a	chr2:86850693-86850708 chr2:86850664-86850679 chr2:86851009-86851024 chr2:86851063-86851078
34	POLR2A	chr2:86849630-86851353	GM19099	blood:	n/a	n/a
35	CHD2	chr2:86849670-86851456	GM12878	blood:	n/a	chr2:86850312-86850322 chr2:86851099-86851109 chr2:86850188-86850198
36	POLR2A	chr2:86849963-86851284	K562	blood:	n/a	n/a
37	RUNX3	chr2:86849999-86850516	GM12878	blood:	n/a	n/a
38	POLR2A	chr2:86850107-86851320	HCT-116	colon:	n/a	n/a
39	YY1	chr2:86850348-86850539	HCT-116	colon:	n/a	n/a
40	MYC	chr2:86849726-86851557	NB4	blood:	n/a	n/a
41	POLR2A	chr2:86849374-86851332	H1-hESC	embryonic stem cell:	n/a	n/a
42	SIN3AK20	chr2:86849225-86851491	MCF-7	breast:	n/a	n/a
43	TFAP2C	chr2:86849801-86851569	Hela-S3	cervix:	n/a	n/a
44	MAZ	chr2:86849747-86851472	K562	blood:	n/a	n/a
45	POLR2A	chr2:86850018-86851759	HepG2	liver:	n/a	n/a
46	POLR2A	chr2:86850192-86851317	HCT-116	colon:	n/a	n/a
47	POLR2A	chr2:86850025-86851203	A549	lung:	n/a	n/a
48	MAZ	chr2:86849640-86851348	GM12878	blood:	n/a	n/a
49	POLR2A	chr2:86850017-86851165	GM10847	blood:	n/a	n/a
50	TAF1	chr2:86850121-86851353	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr1:183604468..183605039-chr2:86850253..86851080,2	Hela-S3	cervix:
2	chr16:88877838..88878533-chr2:86850106..86850993,2	Hela-S3	cervix:
3	chr13:111367737..111368547-chr2:86850388..86850983,2	Hela-S3	cervix:
4	chr2:86667340..86669262-chr2:86848703..86850957,2	MCF-7	breast:
5	chr2:86849761..86852664-chr2:86946875..86949825,4	MCF-7	breast:
6	chr2:86850155..86850837-chr7:27224722..27225222,2	Hela-S3	cervix:
7	chr2:86788265..86792368-chr2:86847223..86851122,9	MCF-7	breast:
8	chr2:86850385..86850981-chr7:8007809..8008749,2	NB4	blood:
9	chr2:86667874..86671580-chr2:86848738..86852940,5	K562	blood:
10	chr2:86676152..86678942-chr2:86849820..86852421,2	MCF-7	breast:
11	chr2:86849205..86851980-chr4:103788532..103791480,2	MCF-7	breast:
12	chr2:86849813..86851532-chr9:114391747..114393838,2	MCF-7	breast:
13	chr14:91526539..91527223-chr2:86850440..86850998,2	Hela-S3	cervix:
14	chr17:8075574..8078045-chr2:86848559..86850973,2	MCF-7	breast:
15	chr2:86850136..86852379-chr2:86973884..86976847,2	K562	blood:
16	chr2:86848500..86851973-chr2:86945425..86949651,4	MCF-7	breast:
17	chr2:86839004..86842325-chr2:86847581..86852030,6	MCF-7	breast:
18	chr2:86669498..86671776-chr2:86849448..86851643,2	MCF-7	breast:
19	chr2:86787885..86791617-chr2:86846945..86852237,10	MCF-7	breast:

Variant related genes	Relation type
RNF103	TF binding region
RNF103-CHMP3	TF binding region
ENSG00000162704	Chromatin interaction
ENSG00000005073	Chromatin interaction
ENSG00000059769	Chromatin interaction
ENSG00000239305	Chromatin interaction
ENSG00000249884	Chromatin interaction
ENSG00000133943	Chromatin interaction
ENSG00000204173	Chromatin interaction
ENSG00000198931	Chromatin interaction
ENSG00000244115	Chromatin interaction
ENSG00000100784	Chromatin interaction
ENSG00000106415	Chromatin interaction
ENSG00000109332	Chromatin interaction
ENSG00000153561	Chromatin interaction
ENSG00000228363	Chromatin interaction
ENSG00000115561	Chromatin interaction
ENSG00000200463	Chromatin interaction
ENSG00000145354	Chromatin interaction
ENSG00000115548	Chromatin interaction
ENSG00000153487	Chromatin interaction
ENSG00000240990	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:126 , 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	chr2:86848400-86851000	Active TSS	Primary T cells fromperipheralblood	blood
36	chr2:86848400-86851000	Active TSS	Brain Hippocampus Middle	brain
37	chr2:86848400-86851000	Active TSS	HUVEC	blood vessel
38	chr2:86848400-86851200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr2:86848400-86851200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
40	chr2:86848400-86851200	Active TSS	Fetal Kidney	kidney
41	chr2:86848400-86851200	Active TSS	Rectal Mucosa Donor 31	rectum
42	chr2:86848400-86851200	Active TSS	K562	blood
43	chr2:86848400-86851200	Active TSS	NHDF-Ad	bronchial
44	chr2:86848400-86851400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr2:86848400-86851400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr2:86848400-86851400	Active TSS	Skeletal Muscle Female	skeletal muscle
47	chr2:86848400-86851400	Active TSS	NHLF	lung
48	chr2:86848400-86851600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr2:86848400-86851600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr2:86848400-86851600	Active TSS	Fetal Muscle Trunk	muscle

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