Variant report

Variant	rs72938294
Chromosome Location	chr2:110372688-110372689
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	chr2:110370191-110373374	H1-hESC	embryonic stem cell:	n/a	n/a
2	CTBP2	chr2:110371735-110373651	H1-hESC	embryonic stem cell:	n/a	n/a
3	MAX	chr2:110371329-110373605	H1-hESC	embryonic stem cell:	n/a	n/a
4	SREBP1	chr2:110370971-110373327	HepG2	liver:	n/a	n/a
5	MYBL2	chr2:110370502-110374022	HepG2	liver:	n/a	chr2:110371047-110371062
6	MAX	chr2:110371295-110373567	A549	lung:	n/a	n/a
7	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
8	MAX	chr2:110370740-110373659	A549	lung:	n/a	n/a
9	MAZ	chr2:110370958-110373688	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr2:110372682-110373207	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr2:110369085-110379088	Hela-S3	cervix:	n/a	n/a
12	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
13	RCOR1	chr2:110370666-110373874	Hela-S3	cervix:	n/a	n/a
14	MAX	chr2:110370986-110373857	HepG2	liver:	n/a	n/a
15	MAX	chr2:110372587-110373672	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr2:110370305-110374042	Hela-S3	cervix:	n/a	n/a
17	USF2	chr2:110372664-110373485	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr2:110370315-110373849	Hela-S3	cervix:	n/a	n/a
19	POLR2A	chr2:110372608-110374359	Hela-S3	cervix:	n/a	n/a
20	SMARCB1	chr2:110370815-110373912	Hela-S3	cervix:	n/a	n/a
21	MYC	chr2:110372486-110373270	MCF-7	breast:	n/a	n/a
22	CREB1	chr2:110370897-110374076	HepG2	liver:	n/a	n/a
23	SIN3AK20	chr2:110370866-110373285	PANC-1	pancreas:	n/a	n/a
24	POLR2A	chr2:110370991-110373321	MCF-7	breast:	n/a	n/a
25	ZNF263	chr2:110370375-110374014	HEK293-T-REx	kidney:	n/a	n/a
26	POLR2A	chr2:110369276-110373158	IMR90	lung:	n/a	n/a
27	SIN3A	chr2:110370556-110373917	H1-hESC	embryonic stem cell:	n/a	chr2:110371213-110371224 chr2:110370971-110370982
28	MXI1	chr2:110370718-110373948	HepG2	liver:	n/a	n/a
29	MAX	chr2:110371307-110373642	A549	lung:	n/a	n/a
30	MXI1	chr2:110372606-110373913	Hela-S3	cervix:	n/a	n/a
31	E2F6	chr2:110372124-110373679	H1-hESC	embryonic stem cell:	n/a	chr2:110373183-110373198
32	MAX	chr2:110370845-110374026	HepG2	liver:	n/a	n/a
33	POLR2A	chr2:110369410-110372842	MCF10A-Er-Src	breast:	n/a	n/a
34	E2F6	chr2:110372509-110373566	H1-hESC	embryonic stem cell:	n/a	chr2:110373183-110373198
35	MAX	chr2:110371264-110373253	MCF-7	breast:	n/a	n/a
36	ZKSCAN1	chr2:110371038-110373623	Hela-S3	cervix:	n/a	n/a
37	TAF1	chr2:110370945-110373231	HepG2	liver:	n/a	n/a
38	TFAP2C	chr2:110370855-110373766	Hela-S3	cervix:	n/a	chr2:110371774-110371783 chr2:110372105-110372120
39	POLR2A	chr2:110372644-110373958	HepG2	liver:	n/a	n/a
40	CHD1	chr2:110369172-110374773	IMR90	lung:	n/a	n/a
41	POLR2A	chr2:110372644-110373285	MCF-7	breast:	n/a	n/a
42	POLR2A	chr2:110370629-110373636	Hela-S3	cervix:	n/a	n/a
43	YY1	chr2:110370842-110373630	HepG2	liver:	n/a	chr2:110371216-110371227 chr2:110371972-110371986 chr2:110371145-110371159
44	MXI1	chr2:110370220-110373217	IMR90	lung:	n/a	n/a
45	TAF1	chr2:110370900-110373540	HepG2	liver:	n/a	n/a
46	POLR2A	chr2:110369290-110378742	MCF10A-Er-Src	breast:	n/a	n/a
47	MAZ	chr2:110370358-110373280	IMR90	lung:	n/a	n/a
48	POLR2A	chr2:110370940-110373624	HepG2	liver:	n/a	n/a
49	CTCF	chr2:110372680-110372830	NHEK	skin:	n/a	n/a
50	MAX	chr2:110372128-110373713	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:110365749..110368166-chr2:110372173..110374120,2	MCF-7	breast:
2	chr19:55700194..55700967-chr2:110372037..110373032,2	Hela-S3	cervix:

Variant related genes	Relation type
SEPT10	TF binding region

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs28361394	0.93[AFR][1000 genomes]
rs28374561	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28603269	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28639612	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28658552	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28707057	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28718793	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28721931	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60978762	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61054424	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72938243	1.00[AMR][1000 genomes]
rs72938247	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72938283	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72940226	0.83[AFR][1000 genomes];1.00[AMR][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	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:120 , 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	chr2:110369400-110373200	Active TSS	HSMM	muscle
4	chr2:110369400-110374600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr2:110369600-110372800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr2:110369600-110373800	Active TSS	Aorta	Aorta
7	chr2:110369600-110374000	Active TSS	Hela-S3	cervix
8	chr2:110369800-110373400	Active TSS	A549	lung
9	chr2:110369800-110374200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr2:110370000-110372800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:110370000-110372800	Active TSS	Rectal Mucosa Donor 31	rectum
12	chr2:110370000-110373000	Active TSS	NHDF-Ad	bronchial
13	chr2:110370000-110373800	Active TSS	H9 Cell Line	embryonic stem cell
14	chr2:110370000-110373800	Active TSS	Pancreatic Islets	Pancreatic Islet
15	chr2:110370000-110374000	Active TSS	Fetal Kidney	kidney
16	chr2:110370000-110374800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr2:110370000-110375000	Active TSS	NHEK	skin
18	chr2:110370200-110372800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr2:110370200-110372800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr2:110370200-110373000	Active TSS	Fetal Lung	lung
21	chr2:110370200-110373800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr2:110370400-110372800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr2:110370400-110372800	Active TSS	Breast Myoepithelial Primary Cells	Breast
24	chr2:110370400-110372800	Active TSS	Brain Substantia Nigra	brain
25	chr2:110370400-110372800	Active TSS	Fetal Intestine Small	intestine
26	chr2:110370400-110372800	Active TSS	Rectal Mucosa Donor 29	rectum
27	chr2:110370400-110372800	Active TSS	Osteobl	bone
28	chr2:110370400-110373000	Active TSS	Liver	Liver
29	chr2:110370400-110373000	Active TSS	Colon Smooth Muscle	Colon
30	chr2:110370400-110373000	Active TSS	Esophagus	oesophagus
31	chr2:110370400-110373200	Active TSS	Fetal Intestine Large	intestine
32	chr2:110370400-110373400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr2:110370600-110372800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr2:110370600-110372800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr2:110370600-110372800	Active TSS	Brain Angular Gyrus	brain
36	chr2:110370600-110373000	Active TSS	Brain Cingulate Gyrus	brain
37	chr2:110370600-110373000	Active TSS	Rectal Smooth Muscle	rectum
38	chr2:110370600-110373800	Active TSS	HSMMtube	muscle
39	chr2:110370800-110372800	Active TSS	Duodenum Mucosa	Duodenum
40	chr2:110370800-110372800	Active TSS	Small Intestine	intestine
41	chr2:110370800-110373000	Active TSS	Brain Anterior Caudate	brain
42	chr2:110371000-110372800	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
43	chr2:110371200-110373400	ZNF genes & repeats	Spleen	Spleen
44	chr2:110371600-110373400	ZNF genes & repeats	GM12878-XiMat	blood
45	chr2:110371800-110373200	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr2:110371800-110373400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
47	chr2:110372000-110373400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr2:110372000-110373600	Active TSS	Stomach Mucosa	stomach
49	chr2:110372000-110373800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
50	chr2:110372200-110372800	Enhancers	Primary hematopoietic stem cells	blood

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