Variant report

Variant	rs62152866
Chromosome Location	chr2:97532849-97532850
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	USF1	chr2:97532591-97533012	GM12878	blood:	n/a	chr2:97532824-97532837 chr2:97532825-97532834 chr2:97532820-97532841 chr2:97532826-97532835 chr2:97532826-97532835
2	POLR2A	chr2:97528950-97536892	K562	blood:	n/a	n/a
3	USF1	chr2:97532709-97532993	A549	lung:	n/a	chr2:97532824-97532837 chr2:97532825-97532834 chr2:97532820-97532841 chr2:97532826-97532835 chr2:97532826-97532835
4	YY1	chr2:97532715-97533108	H1-hESC	embryonic stem cell:	n/a	chr2:97532841-97532863
5	POLR2A	chr2:97532646-97534782	GM12891	blood:	n/a	n/a
6	POLR2A	chr2:97532256-97533127	SK-N-MC	brain:	n/a	n/a
7	BHLHE40	chr2:97532752-97533001	GM12878	blood:	n/a	chr2:97532824-97532837 chr2:97532825-97532834 chr2:97532820-97532841 chr2:97532826-97532835 chr2:97532826-97532835
8	SIN3AK20	chr2:97531740-97537442	MCF-7	breast:	n/a	n/a
9	POLR2A	chr2:97531835-97533066	PFSK-1	brain:	n/a	n/a
10	USF2	chr2:97532674-97533022	GM12878	blood:	n/a	chr2:97532824-97532837 chr2:97532825-97532834 chr2:97532820-97532841 chr2:97532826-97532835 chr2:97532826-97532835
11	SIN3A	chr2:97532830-97532953	GM12878	blood:	n/a	n/a
12	MTA3	chr2:97532680-97535126	GM12878	blood:	n/a	n/a
13	YY1	chr2:97532672-97533031	GM12892	blood:	n/a	chr2:97532841-97532863
14	USF1	chr2:97532649-97532954	GM12878	blood:	n/a	chr2:97532824-97532837 chr2:97532825-97532834 chr2:97532820-97532841 chr2:97532826-97532835 chr2:97532826-97532835
15	POLR2A	chr2:97531939-97537196	K562	blood:	n/a	n/a
16	POLR2A	chr2:97532739-97532884	ProgFib	skin:	n/a	n/a
17	NFE2	chr2:97532680-97532880	GM12878	blood:	n/a	chr2:97532826-97532835
18	YY1	chr2:97532795-97532950	K562	blood:	n/a	chr2:97532841-97532863
19	POLR2A	chr2:97531863-97532865	MCF10A-Er-Src	breast:	n/a	n/a
20	POLR2A	chr2:97532075-97533142	GM12878	blood:	n/a	n/a
21	POLR2A	chr2:97532691-97533389	MCF-7	breast:	n/a	n/a
22	MAX	chr2:97532805-97532988	GM12878	blood:	n/a	chr2:97532824-97532837 chr2:97532826-97532835 chr2:97532824-97532837 chr2:97532826-97532835 chr2:97532825-97532836 chr2:97532825-97532836 chr2:97532827-97532836
23	POLR2A	chr2:97528920-97537556	K562	blood:	n/a	n/a
24	POLR2A	chr2:97531139-97533441	GM12878	blood:	n/a	n/a
25	POLR2A	chr2:97532619-97533095	GM12892	blood:	n/a	n/a
26	POLR2A	chr2:97531400-97535132	GM12892	blood:	n/a	n/a
27	POLR2A	chr2:97531904-97533165	HepG2	liver:	n/a	n/a
28	YY1	chr2:97532668-97533023	GM12891	blood:	n/a	chr2:97532841-97532863
29	ATF3	chr2:97532723-97532885	GM12878	blood:	n/a	chr2:97532826-97532835
30	POLR2A	chr2:97532187-97533784	K562	blood:	n/a	n/a
31	YY1	chr2:97532694-97532977	GM12891	blood:	n/a	chr2:97532841-97532863
32	ZNF263	chr2:97532395-97535700	HEK293-T-REx	kidney:	n/a	chr2:97535020-97535029 chr2:97533774-97533783 chr2:97533857-97533866
33	ELF1	chr2:97532437-97533048	GM12878	blood:	n/a	n/a
34	POLR2A	chr2:97531988-97533023	PFSK-1	brain:	n/a	n/a
35	YY1	chr2:97532635-97533065	GM12878	blood:	n/a	chr2:97532841-97532863
36	POLR2A	chr2:97526909-97536686	HepG2	liver:	n/a	n/a
37	YY1	chr2:97532627-97533067	GM12892	blood:	n/a	chr2:97532841-97532863
38	USF1	chr2:97532777-97532898	H1-hESC	embryonic stem cell:	n/a	chr2:97532824-97532837 chr2:97532825-97532834 chr2:97532820-97532841 chr2:97532826-97532835 chr2:97532826-97532835
39	POLR2A	chr2:97532582-97533177	H1-hESC	embryonic stem cell:	n/a	n/a
40	YY1	chr2:97532698-97532930	A549	lung:	n/a	chr2:97532841-97532863
41	POLR2A	chr2:97528940-97537661	K562	blood:	n/a	n/a
42	SIN3A	chr2:97532782-97532926	H1-hESC	embryonic stem cell:	n/a	chr2:97532825-97532834
43	POLR2A	chr2:97530481-97535177	GM12878	blood:	n/a	n/a
44	YY1	chr2:97532620-97532992	GM12878	blood:	n/a	chr2:97532841-97532863
45	POLR2A	chr2:97531581-97533020	K562	blood:	n/a	n/a
46	USF2	chr2:97532719-97532919	H1-hESC	embryonic stem cell:	n/a	chr2:97532824-97532837 chr2:97532825-97532834 chr2:97532820-97532841 chr2:97532826-97532835 chr2:97532826-97532835
47	BHLHE40	chr2:97532765-97533012	K562	blood:	n/a	chr2:97532824-97532837 chr2:97532825-97532834 chr2:97532820-97532841 chr2:97532826-97532835 chr2:97532826-97532835
48	POLR2A	chr2:97532483-97532850	GM12878	blood:	n/a	n/a
49	POLR2A	chr2:97532230-97536091	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:97481648..97486150-chr2:97531417..97538119,10	MCF-7	breast:
2	chr2:97516728..97547486-chr2:97588377..97628331,265	MCF-7	breast:
3	chr2:97530625..97533961-chr2:97614118..97617148,3	K562	blood:
4	chr2:97531702..97533612-chr2:97560749..97562713,2	K562	blood:
5	chr2:97490772..97492276-chr2:97531801..97534109,2	MCF-7	breast:
6	chr2:97426212..97427746-chr2:97532479..97534253,2	MCF-7	breast:

Variant related genes	Relation type
SEMA4C	TF binding region
ENSG00000252845	Chromatin interaction
ENSG00000168754	Chromatin interaction
ENSG00000158158	Chromatin interaction
ENSG00000168763	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs72811637	0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933671	chr2:96739308-97652262	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv1000780	chr2:96740430-97671395	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv535826	chr2:96740430-97671395	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
4	nsv874677	chr2:96756547-97717345	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
5	nsv1001204	chr2:96766559-97728507	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
6	nsv535827	chr2:96766559-97728507	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
7	nsv874680	chr2:97309574-97678319	Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
8	nsv526313	chr2:97333492-97660619	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
9	nsv874681	chr2:97410949-97577343	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
10	nsv874682	chr2:97423626-97567389	Transcr. at gene 5' and 3' Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 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	chr2:97523800-97533000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr2:97524200-97533400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:97524600-97533400	Genic enhancers	Spleen	Spleen
4	chr2:97524600-97533600	Weak transcription	Psoas Muscle	Psoas
5	chr2:97525000-97533800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr2:97525400-97533600	Weak transcription	Small Intestine	intestine
7	chr2:97525800-97533200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
8	chr2:97525800-97533200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
9	chr2:97525800-97533200	Strong transcription	Aorta	Aorta
10	chr2:97525800-97533400	Strong transcription	H9 Cell Line	embryonic stem cell
11	chr2:97526200-97533000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
12	chr2:97526400-97533200	Strong transcription	HUES6 Cell Line	embryonic stem cell
13	chr2:97526600-97533200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr2:97527000-97533200	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:97529000-97533000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr2:97529000-97534200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr2:97529000-97534400	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr2:97529400-97534200	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr2:97530000-97533200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr2:97530000-97533200	Genic enhancers	Primary T cells fromperipheralblood	blood
21	chr2:97530000-97533200	Genic enhancers	Left Ventricle	heart
22	chr2:97530000-97533400	Genic enhancers	Gastric	stomach
23	chr2:97530000-97533400	Genic enhancers	Skeletal Muscle Male	skeletal muscle
24	chr2:97530400-97533000	Genic enhancers	Brain Substantia Nigra	brain
25	chr2:97530400-97533400	Genic enhancers	Lung	lung
26	chr2:97530600-97533800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr2:97531000-97533200	Genic enhancers	Fetal Stomach	stomach
28	chr2:97531200-97533400	Genic enhancers	Pancreas	Pancrea
29	chr2:97531200-97533400	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
30	chr2:97531400-97533000	Weak transcription	HMEC	breast
31	chr2:97531400-97533200	Genic enhancers	Primary T helper cells fromperipheralblood	blood
32	chr2:97531600-97533000	Weak transcription	NHDF-Ad	bronchial
33	chr2:97531600-97533200	Genic enhancers	Esophagus	oesophagus
34	chr2:97531600-97533600	Transcr. at gene 5' and 3'	HSMM	muscle
35	chr2:97531600-97533800	Enhancers	Fetal Brain Male	brain
36	chr2:97531800-97533000	Enhancers	Primary B cells from cord blood	blood
37	chr2:97531800-97533200	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr2:97531800-97533200	Weak transcription	Fetal Kidney	kidney
39	chr2:97531800-97533400	Enhancers	Right Atrium	heart
40	chr2:97531800-97533800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
41	chr2:97531800-97533800	Transcr. at gene 5' and 3'	Fetal Adrenal Gland	Adrenal Gland
42	chr2:97532000-97533000	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr2:97532000-97533000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr2:97532000-97533200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
45	chr2:97532000-97533200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
46	chr2:97532000-97533400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr2:97532000-97533400	Enhancers	Fetal Heart	heart
48	chr2:97532000-97533600	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
49	chr2:97532000-97533600	Transcr. at gene 5' and 3'	Brain Hippocampus Middle	brain
50	chr2:97532000-97534200	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood

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