Variant report

Variant	rs16830686
Chromosome Location	chr2:152954035-152954036
allele	C/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	CTCF	chr2:152953980-152954130	SAEC	small airway:	n/a	n/a
2	JUND	chr2:152953923-152954156	H1-hESC	embryonic stem cell:	n/a	chr2:152954006-152954018 chr2:152954007-152954017 chr2:152954007-152954017 chr2:152954006-152954017 chr2:152954007-152954016 chr2:152954007-152954017 chr2:152954007-152954017
3	MAX	chr2:152953830-152954272	MCF-7	breast:	n/a	chr2:152954061-152954071 chr2:152954008-152954017
4	JUN	chr2:152954017-152954106	H1-hESC	embryonic stem cell:	n/a	n/a
5	TCF7L2	chr2:152953829-152954129	Hela-S3	cervix:	n/a	chr2:152953998-152954012 chr2:152954007-152954016
6	KAP1	chr2:152953828-152954842	HEK293	kidney:	n/a	n/a
7	NFIC	chr2:152953741-152954331	GM12878	blood:	n/a	n/a
8	FOSL2	chr2:152953792-152954231	HepG2	liver:	n/a	chr2:152954006-152954018 chr2:152954007-152954017 chr2:152954007-152954017 chr2:152954007-152954016 chr2:152954007-152954017 chr2:152954007-152954017
9	SUZ12	chr2:152953899-152956422	NT2-D1	testis:	n/a	n/a
10	FOSL2	chr2:152953814-152954234	MCF-7	breast:	n/a	chr2:152954006-152954018 chr2:152954007-152954017 chr2:152954007-152954017 chr2:152954007-152954016 chr2:152954007-152954017 chr2:152954007-152954017
11	MYC	chr2:152953991-152954042	Hela-S3	cervix:	n/a	chr2:152954008-152954017
12	MAX	chr2:152953947-152954138	NB4	blood:	n/a	chr2:152954061-152954071 chr2:152954008-152954017
13	ZNF263	chr2:152953867-152956292	HEK293-T-REx	kidney:	n/a	chr2:152955418-152955439 chr2:152954806-152954815
14	RUNX3	chr2:152953738-152954897	GM12878	blood:	n/a	n/a
15	POLR2A	chr2:152953982-152954970	H1-neurons	neurons:	n/a	n/a
16	JUN	chr2:152953801-152954081	HepG2	liver:	n/a	chr2:152954006-152954018 chr2:152954007-152954017 chr2:152954007-152954017 chr2:152954007-152954016 chr2:152954007-152954017 chr2:152954007-152954017
17	FOSL1	chr2:152953746-152954223	HCT-116	colon:	n/a	chr2:152954006-152954018 chr2:152954007-152954017 chr2:152954007-152954017 chr2:152954007-152954016 chr2:152954007-152954017 chr2:152954007-152954017
18	RAD21	chr2:152953943-152954218	Hela-S3	cervix:	n/a	n/a
19	KAP1	chr2:152953190-152954815	U2OS	brain:	n/a	n/a
20	FOS	chr2:152953794-152954220	MCF10A-Er-Src	breast:	n/a	chr2:152954006-152954018 chr2:152954007-152954017 chr2:152954007-152954017 chr2:152954007-152954016 chr2:152954007-152954017 chr2:152954007-152954017
21	CTCF	chr2:152953940-152954090	HBMEC	blood vessel:	n/a	n/a
22	GATA2	chr2:152953873-152954923	SH-SY5Y	brain:	n/a	chr2:152954398-152954405 chr2:152954398-152954405 chr2:152954396-152954406 chr2:152954396-152954405 chr2:152954393-152954409 chr2:152954395-152954407 chr2:152954398-152954405
23	JUND	chr2:152953766-152954173	HepG2	liver:	n/a	chr2:152954006-152954018 chr2:152954007-152954017 chr2:152954007-152954017 chr2:152954006-152954017 chr2:152954007-152954016 chr2:152954007-152954017 chr2:152954007-152954017
24	POLR2A	chr2:152953826-152954825	GM12891	blood:	n/a	n/a
25	CEBPB	chr2:152953395-152954116	Hela-S3	cervix:	n/a	chr2:152953840-152953849 chr2:152953840-152953851 chr2:152953838-152953851
26	FOS	chr2:152953782-152954153	MCF10A-Er-Src	breast:	n/a	chr2:152954006-152954018 chr2:152954007-152954017 chr2:152954007-152954017 chr2:152954007-152954016 chr2:152954007-152954017 chr2:152954007-152954017
27	FOS	chr2:152953786-152954218	MCF10A-Er-Src	breast:	n/a	chr2:152954006-152954018 chr2:152954007-152954017 chr2:152954007-152954017 chr2:152954007-152954016 chr2:152954007-152954017 chr2:152954007-152954017
28	STAT3	chr2:152953919-152954119	MCF10A-Er-Src	breast:	n/a	chr2:152954007-152954016
29	MAX	chr2:152953901-152954120	Hela-S3	cervix:	n/a	chr2:152954061-152954071 chr2:152954008-152954017
30	CEBPB	chr2:152953660-152954044	HepG2	liver:	n/a	chr2:152953840-152953849 chr2:152953840-152953851 chr2:152953838-152953851
31	CEBPB	chr2:152953692-152954080	IMR90	lung:	n/a	chr2:152953840-152953849 chr2:152953840-152953851 chr2:152953838-152953851
32	POLR2A	chr2:152953853-152954335	GM12892	blood:	n/a	n/a
33	MYC	chr2:152953853-152954185	MCF10A-Er-Src	breast:	n/a	chr2:152954061-152954071 chr2:152954008-152954017
34	FOS	chr2:152953884-152954108	MCF10A-Er-Src	breast:	n/a	chr2:152954006-152954018 chr2:152954007-152954017 chr2:152954007-152954017 chr2:152954007-152954016 chr2:152954007-152954017 chr2:152954007-152954017
35	MYC	chr2:152953872-152954195	MCF10A-Er-Src	breast:	n/a	chr2:152954061-152954071 chr2:152954008-152954017
36	TCF7L2	chr2:152953737-152954146	HCT-116	colon:	n/a	chr2:152953998-152954012 chr2:152954007-152954016
37	ARID3A	chr2:152953727-152954228	HepG2	liver:	n/a	n/a
38	MTA3	chr2:152953825-152954528	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000225214	TF binding region

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11895924	0.80[JPT][hapmap]
rs34347895	0.82[ASN][1000 genomes]
rs3820706	0.81[CHB][hapmap];0.85[JPT][hapmap];0.84[ASN][1000 genomes]

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	nsv1005746	chr2:152361972-153059840	Strong transcription Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv535984	chr2:152361972-153059840	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	esv3693431	chr2:152683731-152981827	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv875287	chr2:152714680-153110573	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv875288	chr2:152716628-153183646	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	nsv875289	chr2:152720030-153183646	Enhancers Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
7	esv1847028	chr2:152863856-153045036	Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:152953200-152956000	Active TSS	Brain Anterior Caudate	brain
2	chr2:152953400-152955800	Active TSS	Brain Cingulate Gyrus	brain
3	chr2:152953400-152955800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
4	chr2:152953600-152954200	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
5	chr2:152953600-152954200	Enhancers	Hela-S3	cervix
6	chr2:152953600-152954400	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
7	chr2:152953600-152954600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr2:152953600-152954600	Active TSS	Brain Inferior Temporal Lobe	brain
9	chr2:152953600-152954800	Flanking Active TSS	Fetal Brain Female	brain
10	chr2:152953600-152956200	Active TSS	Brain Angular Gyrus	brain
11	chr2:152953800-152954200	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
12	chr2:152953800-152954200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr2:152953800-152954200	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
14	chr2:152953800-152954200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr2:152953800-152954200	Bivalent/Poised TSS	Brain Germinal Matrix	brain
16	chr2:152953800-152954200	Enhancers	Placenta	Placenta
17	chr2:152953800-152954200	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
18	chr2:152953800-152954200	Flanking Bivalent TSS/Enh	A549	lung
19	chr2:152953800-152954600	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
20	chr2:152953800-152954600	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
21	chr2:152953800-152954600	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
22	chr2:152953800-152954600	Flanking Bivalent TSS/Enh	HSMM	muscle
23	chr2:152953800-152954600	Flanking Active TSS	HSMMtube	muscle
24	chr2:152953800-152954800	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
25	chr2:152953800-152954800	Flanking Bivalent TSS/Enh	HepG2	liver
26	chr2:152953800-152954800	Flanking Bivalent TSS/Enh	NHEK	skin
27	chr2:152953800-152955000	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr2:152953800-152955000	Flanking Bivalent TSS/Enh	Muscle Satellite Cultured Cells	--
29	chr2:152953800-152955400	Active TSS	Brain Hippocampus Middle	brain
30	chr2:152953800-152955600	Bivalent/Poised TSS	Monocytes-CD14+_RO01746	blood
31	chr2:152953800-152955800	Active TSS	Colon Smooth Muscle	Colon
32	chr2:152953800-152955800	Active TSS	Duodenum Smooth Muscle	Duodenum
33	chr2:152953800-152955800	Active TSS	GM12878-XiMat	blood
34	chr2:152953800-152956000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
35	chr2:152953800-152956200	Active TSS	Breast Myoepithelial Primary Cells	Breast
36	chr2:152953800-152956400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
37	chr2:152953800-152956400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
38	chr2:152954000-152954200	Flanking Bivalent TSS/Enh	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr2:152954000-152954200	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr2:152954000-152954200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr2:152954000-152954200	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr2:152954000-152954200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
43	chr2:152954000-152954200	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
44	chr2:152954000-152954200	Bivalent/Poised TSS	Primary B cells from cord blood	blood
45	chr2:152954000-152954200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr2:152954000-152954200	Flanking Active TSS	Adipose Nuclei	Adipose
47	chr2:152954000-152954200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
48	chr2:152954000-152954200	Bivalent Enhancer	Fetal Heart	heart
49	chr2:152954000-152954200	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
50	chr2:152954000-152954200	Flanking Bivalent TSS/Enh	Fetal Kidney	kidney

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