Variant report

Variant	rs533846532
Chromosome Location	chr2:110372162-110372163
allele	C/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	POLR2A	chr2:110371208-110372397	H1-neurons	neurons:	n/a	n/a
2	POLR2A	chr2:110370191-110373374	H1-hESC	embryonic stem cell:	n/a	n/a
3	BRCA1	chr2:110371350-110372402	HepG2	liver:	n/a	n/a
4	HDAC2	chr2:110370946-110372330	HepG2	liver:	n/a	n/a
5	ELK4	chr2:110371546-110372173	HEK293	kidney:	n/a	chr2:110371773-110371784 chr2:110371774-110371783
6	POLR2A	chr2:110370936-110372361	GM18505	blood:	n/a	n/a
7	CEBPB	chr2:110371320-110372227	HepG2	liver:	n/a	n/a
8	CTBP2	chr2:110371735-110373651	H1-hESC	embryonic stem cell:	n/a	n/a
9	CEBPD	chr2:110371027-110372227	HepG2	liver:	n/a	n/a
10	POLR2A	chr2:110370338-110372364	HepG2	liver:	n/a	n/a
11	MAX	chr2:110371329-110373605	H1-hESC	embryonic stem cell:	n/a	n/a
12	PBX3	chr2:110371326-110372165	SK-N-SH	brain:	n/a	n/a
13	CTCF	chr2:110372120-110372270	AG04449	skin:	n/a	n/a
14	POLR2A	chr2:110370559-110372272	HUVEC	blood vessel:	n/a	n/a
15	POLR2A	chr2:110371075-110372350	MCF-7	breast:	n/a	n/a
16	YY1	chr2:110371861-110372403	ECC-1	luminal epithelium:	n/a	chr2:110371972-110371986
17	POLR2A	chr2:110371322-110372274	A549	lung:	n/a	n/a
18	SREBP1	chr2:110370971-110373327	HepG2	liver:	n/a	n/a
19	MYC	chr2:110371540-110372369	H1-hESC	embryonic stem cell:	n/a	n/a
20	MYBL2	chr2:110370502-110374022	HepG2	liver:	n/a	chr2:110371047-110371062
21	TCF7L2	chr2:110371438-110372265	HCT-116	colon:	n/a	n/a
22	MAX	chr2:110371295-110373567	A549	lung:	n/a	n/a
23	RFX5	chr2:110370354-110372172	Hela-S3	cervix:	n/a	n/a
24	REST	chr2:110371166-110372622	H1-neurons	neurons:	n/a	chr2:110371830-110371840
25	TAF1	chr2:110370799-110372359	H1-hESC	embryonic stem cell:	n/a	n/a
26	HA-E2F1	chr2:110370732-110372693	MCF-7	breast:	n/a	chr2:110371142-110371152 chr2:110370860-110370874 chr2:110371733-110371744 chr2:110370863-110370870 chr2:110370862-110370871 chr2:110370863-110370870 chr2:110370863-110370870 chr2:110370859-110370871 chr2:110371199-110371211 chr2:110370968-110370978 chr2:110371209-110371219 chr2:110371309-110371321
27	MAX	chr2:110370740-110373659	A549	lung:	n/a	n/a
28	POLR2A	chr2:110371033-110372172	GM18951	blood:	n/a	n/a
29	MAZ	chr2:110370958-110373688	Hela-S3	cervix:	n/a	n/a
30	POLR2A	chr2:110371275-110372162	SK-N-SH	brain:	n/a	n/a
31	POLR2A	chr2:110371267-110372411	ECC-1	luminal epithelium:	n/a	n/a
32	POLR2A	chr2:110369085-110379088	Hela-S3	cervix:	n/a	n/a
33	HA-E2F1	chr2:110370968-110372565	Hela-S3	cervix:	n/a	chr2:110371142-110371152 chr2:110371733-110371744 chr2:110371199-110371211 chr2:110370968-110370978 chr2:110371209-110371219 chr2:110371309-110371321
34	TFAP2A	chr2:110370838-110373777	Hela-S3	cervix:	n/a	chr2:110371203-110371217 chr2:110371205-110371215 chr2:110371203-110371217 chr2:110371205-110371215 chr2:110371205-110371215 chr2:110371203-110371215 chr2:110371478-110371493
35	RAD21	chr2:110371791-110372250	H1-hESC	embryonic stem cell:	n/a	n/a
36	POLR2A	chr2:110371297-110372327	H1-hESC	embryonic stem cell:	n/a	n/a
37	RCOR1	chr2:110370666-110373874	Hela-S3	cervix:	n/a	n/a
38	MAX	chr2:110370986-110373857	HepG2	liver:	n/a	n/a
39	JUND	chr2:110370936-110372206	H1-hESC	embryonic stem cell:	n/a	n/a
40	HEY1	chr2:110371243-110372272	HepG2	liver:	n/a	n/a
41	POLR2A	chr2:110370882-110372307	PANC-1	pancreas:	n/a	n/a
42	POLR2A	chr2:110370305-110374042	Hela-S3	cervix:	n/a	n/a
43	BHLHE40	chr2:110371383-110372414	HepG2	liver:	n/a	n/a
44	POLR2A	chr2:110370968-110372235	HEK293	kidney:	n/a	n/a
45	PAX5	chr2:110372119-110372331	GM12878	blood:	n/a	n/a
46	TCF12	chr2:110371270-110372404	ECC-1	luminal epithelium:	n/a	n/a
47	POLR2A	chr2:110370315-110373849	Hela-S3	cervix:	n/a	n/a
48	SMARCB1	chr2:110370815-110373912	Hela-S3	cervix:	n/a	n/a
49	POLR2A	chr2:110371062-110372333	A549	lung:	n/a	n/a
50	POLR2A	chr2:110370844-110372336	HCT-116	colon:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:110371308..110372287-chr5:10353212..10353755,2	Hela-S3	cervix:
2	chr17:6543992..6544843-chr2:110371663..110372369,2	Hela-S3	cervix:
3	chr17:56756563..56757102-chr2:110372008..110372574,2	Hela-S3	cervix:
4	chr2:110362640..110365155-chr2:110368934..110372656,4	MCF-7	breast:
5	chr19:39420830..39421777-chr2:110372028..110372591,2	Hela-S3	cervix:
6	chr19:55700194..55700967-chr2:110372037..110373032,2	Hela-S3	cervix:
7	chr1:150131401..150134100-chr2:110369407..110372211,2	MCF-7	breast:
8	chr19:45970855..45971777-chr2:110372017..110372537,2	Hela-S3	cervix:

Variant related genes	Relation type
SEPT10	TF binding region
ENSG00000023902	Chromatin interaction
ENSG00000129235	Chromatin interaction
ENSG00000259802	Chromatin interaction
ENSG00000200997	Chromatin interaction
ENSG00000125740	Chromatin interaction
ENSG00000104835	Chromatin interaction
ENSG00000128626	Chromatin interaction
ENSG00000198920	Chromatin interaction
ENSG00000230696	Chromatin interaction

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

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	nsv874777	chr2:109825516-110693317	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv874780	chr2:110078080-110432886	Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1011456	chr2:110290958-110980402	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
4	nsv535861	chr2:110290958-110980402	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
5	nsv482469	chr2:110302488-110452580	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
6	nsv1009367	chr2:110349178-110863354	Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
7	nsv829617	chr2:110359857-110380012	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
8	esv2762780	chr2:110367969-110462496	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
9	esv3342666	chr2:110371088-110373636	Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases
10	esv3368733	chr2:110371213-110373661	Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:110369000-110373000	Active TSS	NHLF	lung
2	chr2:110369000-110373800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:110369400-110372400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr2:110369400-110372400	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr2:110369400-110372600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr2:110369400-110373200	Active TSS	HSMM	muscle
7	chr2:110369400-110374600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr2:110369600-110372600	Active TSS	Right Atrium	heart
9	chr2:110369600-110372800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr2:110369600-110373800	Active TSS	Aorta	Aorta
11	chr2:110369600-110374000	Active TSS	Hela-S3	cervix
12	chr2:110369800-110372600	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr2:110369800-110373400	Active TSS	A549	lung
14	chr2:110369800-110374200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr2:110370000-110372200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr2:110370000-110372400	Active TSS	Right Ventricle	heart
17	chr2:110370000-110372600	Active TSS	H1 Cell Line	embryonic stem cell
18	chr2:110370000-110372600	Active TSS	iPS-18 Cell Line	embryonic stem cell
19	chr2:110370000-110372600	Active TSS	iPS-20b Cell Line	embryonic stem cell
20	chr2:110370000-110372600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
21	chr2:110370000-110372600	Active TSS	Fetal Stomach	stomach
22	chr2:110370000-110372600	Active TSS	Ovary	ovary
23	chr2:110370000-110372600	Active TSS	HMEC	breast
24	chr2:110370000-110372800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr2:110370000-110372800	Active TSS	Rectal Mucosa Donor 31	rectum
26	chr2:110370000-110373000	Active TSS	NHDF-Ad	bronchial
27	chr2:110370000-110373800	Active TSS	H9 Cell Line	embryonic stem cell
28	chr2:110370000-110373800	Active TSS	Pancreatic Islets	Pancreatic Islet
29	chr2:110370000-110374000	Active TSS	Fetal Kidney	kidney
30	chr2:110370000-110374800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr2:110370000-110375000	Active TSS	NHEK	skin
32	chr2:110370200-110372400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr2:110370200-110372400	Active TSS	Skeletal Muscle Male	skeletal muscle
34	chr2:110370200-110372600	Active TSS	HUES48 Cell Line	embryonic stem cell
35	chr2:110370200-110372600	Active TSS	HUES6 Cell Line	embryonic stem cell
36	chr2:110370200-110372600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr2:110370200-110372600	Active TSS	Duodenum Smooth Muscle	Duodenum
38	chr2:110370200-110372600	Active TSS	Fetal Muscle Trunk	muscle
39	chr2:110370200-110372600	Active TSS	Placenta	Placenta
40	chr2:110370200-110372600	Active TSS	Left Ventricle	heart
41	chr2:110370200-110372600	Active TSS	Psoas Muscle	Psoas
42	chr2:110370200-110372800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr2:110370200-110372800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr2:110370200-110373000	Active TSS	Fetal Lung	lung
45	chr2:110370200-110373800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr2:110370400-110372200	Active TSS	Cortex derived primary cultured neurospheres	brain
47	chr2:110370400-110372400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr2:110370400-110372600	Active TSS	HUES64 Cell Line	embryonic stem cell
49	chr2:110370400-110372600	Active TSS	iPS-15b Cell Line	embryonic stem cell
50	chr2:110370400-110372600	Active TSS	Muscle Satellite Cultured Cells	--

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