Variant report

Variant	rs368493630
Chromosome Location	chr2:73114076-73114077
allele	A/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	MAX	chr2:73113794-73115311	Hela-S3	cervix:	n/a	n/a
2	TCF12	chr2:73113875-73115501	A549	lung:	n/a	n/a
3	POLR2A	chr2:73114067-73115150	A549	lung:	n/a	n/a
4	NFIC	chr2:73114071-73115362	ECC-1	luminal epithelium:	n/a	n/a
5	MAX	chr2:73114023-73115371	MCF-7	breast:	n/a	n/a
6	MAX	chr2:73113929-73115468	HCT-116	colon:	n/a	n/a
7	CEBPB	chr2:73113576-73114091	ECC-1	luminal epithelium:	n/a	n/a
8	MXI1	chr2:73113776-73114280	H1-hESC	embryonic stem cell:	n/a	chr2:73113862-73113877
9	REST	chr2:73114069-73114317	HepG2	liver:	n/a	n/a
10	MAX	chr2:73113998-73114759	SK-N-SH	brain:	n/a	n/a
11	CEBPB	chr2:73113516-73114346	A549	lung:	n/a	n/a
12	MAX	chr2:73113936-73115352	ECC-1	luminal epithelium:	n/a	n/a
13	MAX	chr2:73114039-73115398	K562	blood:	n/a	n/a
14	KAP1	chr2:73113999-73115409	HEK293	kidney:	n/a	chr2:73115304-73115312
15	ELF1	chr2:73114066-73114634	HepG2	liver:	n/a	n/a
16	GTF2F1	chr2:73113814-73114583	Hela-S3	cervix:	n/a	n/a
17	BHLHE40	chr2:73114018-73115316	K562	blood:	n/a	chr2:73114872-73114888 chr2:73114492-73114508
18	ELF1	chr2:73114028-73114653	MCF-7	breast:	n/a	n/a
19	YY1	chr2:73114021-73115265	HepG2	liver:	n/a	chr2:73114498-73114507 chr2:73114498-73114509 chr2:73114495-73114509 chr2:73114302-73114316
20	POLR2A	chr2:73113971-73114723	HepG2	liver:	n/a	n/a
21	REST	chr2:73114060-73114730	U87	brain:	n/a	n/a
22	E2F6	chr2:73113964-73115391	A549	lung:	n/a	chr2:73114303-73114313
23	TEAD4	chr2:73114034-73114823	ECC-1	luminal epithelium:	n/a	n/a
24	BCL3	chr2:73113982-73114577	A549	lung:	n/a	chr2:73114494-73114507 chr2:73114302-73114315
25	NFIC	chr2:73114016-73114695	HepG2	liver:	n/a	n/a
26	CEBPB	chr2:73113492-73114201	MCF-7	breast:	n/a	n/a
27	GATA2	chr2:73113912-73115219	SH-SY5Y	brain:	n/a	n/a
28	MAX	chr2:73113614-73115363	MCF-7	breast:	n/a	n/a
29	MYBL2	chr2:73114075-73116539	HepG2	liver:	n/a	n/a
30	CEBPB	chr2:73113640-73114082	K562	blood:	n/a	n/a
31	SMARCC1	chr2:73113813-73115189	Hela-S3	cervix:	n/a	n/a
32	HEY1	chr2:73114072-73115261	HepG2	liver:	n/a	n/a
33	BHLHE40	chr2:73113985-73114662	HepG2	liver:	n/a	chr2:73114492-73114508
34	TBP	chr2:73113743-73114507	Hela-S3	cervix:	n/a	n/a
35	HCFC1	chr2:73113820-73115790	Hela-S3	cervix:	n/a	n/a
36	ELF1	chr2:73114025-73115354	GM12878	blood:	n/a	chr2:73114906-73114919
37	E2F6	chr2:73114015-73115328	H1-hESC	embryonic stem cell:	n/a	chr2:73114303-73114313
38	HMGN3	chr2:73114059-73114909	K562	blood:	n/a	n/a
39	SP1	chr2:73113872-73115444	A549	lung:	n/a	chr2:73114490-73114504 chr2:73114491-73114500 chr2:73114489-73114501 chr2:73114490-73114499 chr2:73114489-73114501
40	MXI1	chr2:73113946-73115267	Hela-S3	cervix:	n/a	n/a
41	CEBPB	chr2:73113581-73114132	A549	lung:	n/a	n/a
42	REST	chr2:73113980-73114875	ECC-1	luminal epithelium:	n/a	n/a
43	REST	chr2:73113766-73115342	A549	lung:	n/a	n/a
44	JUN	chr2:73113655-73115589	K562	blood:	n/a	chr2:73114492-73114501 chr2:73113985-73113997
45	POLR2A	chr2:73114072-73115251	Hela-S3	cervix:	n/a	n/a
46	REST	chr2:73114026-73114748	MCF-7	breast:	n/a	n/a
47	MAX	chr2:73113849-73115298	HepG2	liver:	n/a	n/a
48	ZKSCAN1	chr2:73114031-73115360	Hela-S3	cervix:	n/a	n/a
49	JUND	chr2:73113988-73115363	A549	lung:	n/a	chr2:73114492-73114501
50	MAX	chr2:73113979-73115393	ECC-1	luminal epithelium:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:73113720..73115697-chr2:73143241..73144788,2	MCF-7	breast:
2	chr2:73113671..73115841-chr2:73142116..73144129,2	MCF-7	breast:
3	chr2:73113851..73116141-chr2:73460063..73461895,2	K562	blood:
4	chr2:73113964..73115739-chr2:73439855..73442724,2	MCF-7	breast:

Variant related genes	Relation type
SPR	TF binding region
ENSG00000135624	Chromatin interaction
ENSG00000135638	Chromatin interaction
ENSG00000135632	Chromatin interaction
ENSG00000135617	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834259	chr2:72941118-73114106	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv532723	chr2:73088191-73219259	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	esv3377861	chr2:73113469-73116017	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:73113600-73114200	Flanking Active TSS	HepG2	liver
2	chr2:73113600-73114400	Flanking Active TSS	Hela-S3	cervix
3	chr2:73113800-73114200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:73113800-73114200	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr2:73113800-73114200	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
6	chr2:73113800-73114200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr2:73113800-73114200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr2:73113800-73114200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
9	chr2:73113800-73114200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr2:73113800-73114200	Flanking Active TSS	Liver	Liver
11	chr2:73113800-73114200	Flanking Active TSS	Brain Anterior Caudate	brain
12	chr2:73113800-73114200	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
13	chr2:73113800-73114200	Flanking Active TSS	Colonic Mucosa	Colon
14	chr2:73113800-73114200	Enhancers	Gastric	stomach
15	chr2:73113800-73114200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
16	chr2:73113800-73114200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
17	chr2:73113800-73114200	Enhancers	Small Intestine	intestine
18	chr2:73113800-73114200	Flanking Active TSS	Spleen	Spleen
19	chr2:73113800-73114200	Flanking Active TSS	A549	lung
20	chr2:73113800-73114200	Flanking Active TSS	HUVEC	blood vessel
21	chr2:73113800-73114400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr2:73113800-73114400	Flanking Active TSS	Adipose Nuclei	Adipose
23	chr2:73113800-73114400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
24	chr2:73113800-73114400	Flanking Active TSS	Stomach Smooth Muscle	stomach
25	chr2:73113800-73114400	Flanking Active TSS	K562	blood
26	chr2:73113800-73114400	Flanking Active TSS	NHEK	skin
27	chr2:73113800-73115200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
28	chr2:73113800-73115200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
29	chr2:73113800-73115200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
30	chr2:73113800-73115200	Active TSS	Breast Myoepithelial Primary Cells	Breast
31	chr2:73113800-73115200	Active TSS	Brain Inferior Temporal Lobe	brain
32	chr2:73113800-73115200	Active TSS	Colon Smooth Muscle	Colon
33	chr2:73113800-73115200	Active TSS	Psoas Muscle	Psoas
34	chr2:73113800-73115400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
35	chr2:73113800-73115800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr2:73114000-73114200	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
37	chr2:73114000-73114200	Flanking Active TSS	H9 Cell Line	embryonic stem cell
38	chr2:73114000-73114200	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr2:73114000-73114200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr2:73114000-73114200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
41	chr2:73114000-73114200	Flanking Bivalent TSS/Enh	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr2:73114000-73114200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr2:73114000-73114200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
44	chr2:73114000-73114200	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
45	chr2:73114000-73114200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
46	chr2:73114000-73114200	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
47	chr2:73114000-73114200	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
48	chr2:73114000-73114200	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
49	chr2:73114000-73114200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr2:73114000-73114200	Flanking Active TSS	Muscle Satellite Cultured Cells	--

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