Variant report

Variant	rs572835509
Chromosome Location	chr2:151023367-151023368
allele	A/C
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	TEAD4	chr2:151023129-151023477	K562	blood:	n/a	n/a
2	JUN	chr2:151022479-151024829	K562	blood:	n/a	chr2:151024331-151024340 chr2:151024330-151024339 chr2:151024331-151024339 chr2:151024332-151024339
3	GATA3	chr2:151022625-151023603	MCF-7	breast:	n/a	n/a
4	NR2F2	chr2:151022883-151023612	K562	blood:	n/a	n/a
5	EP300	chr2:151023342-151023486	GM12878	blood:	n/a	n/a
6	SPI1	chr2:151023302-151023464	K562	blood:	n/a	n/a
7	EP300	chr2:151023068-151023402	SK-N-SH_RA	brain:	n/a	chr2:151023120-151023127
8	FOSL2	chr2:151022496-151023512	A549	lung:	n/a	n/a
9	SP1	chr2:151022500-151023612	A549	lung:	n/a	n/a
10	JUND	chr2:151022465-151023531	K562	blood:	n/a	n/a
11	E2F6	chr2:151022732-151023410	A549	lung:	n/a	n/a
12	HA-E2F1	chr2:151022701-151023376	MCF-7	breast:	n/a	n/a
13	CEBPB	chr2:151022444-151023528	A549	lung:	n/a	chr2:151022687-151022698
14	POLR2A	chr2:151022713-151023491	PANC-1	pancreas:	n/a	n/a
15	TCF12	chr2:151022353-151023716	A549	lung:	n/a	n/a
16	RAD21	chr2:151022463-151023398	A549	lung:	n/a	n/a
17	POLR2A	chr2:151022680-151023529	PANC-1	pancreas:	n/a	n/a
18	GATA3	chr2:151021965-151023762	A549	lung:	n/a	n/a
19	SIN3AK20	chr2:151022611-151023401	MCF-7	breast:	n/a	n/a
20	EP300	chr2:151022391-151023559	A549	lung:	n/a	chr2:151022688-151022702 chr2:151022936-151022946 chr2:151023120-151023127
21	FOXA1	chr2:151022689-151023395	T-47D	breast:	n/a	chr2:151022974-151022989
22	MAX	chr2:151022665-151023434	K562	blood:	n/a	n/a
23	NR2F2	chr2:151022626-151023405	MCF-7	breast:	n/a	n/a
24	RCOR1	chr2:151022513-151023563	K562	blood:	n/a	n/a
25	PBX3	chr2:151022668-151023426	A549	lung:	n/a	n/a
26	TAL1	chr2:151023240-151023459	K562	blood:	n/a	n/a
27	EP300	chr2:151022522-151023563	K562	blood:	n/a	chr2:151022688-151022702 chr2:151022936-151022946 chr2:151023120-151023127
28	MAFK	chr2:151022906-151023432	K562	blood:	n/a	chr2:151023120-151023130
29	CCNT2	chr2:151023011-151023488	K562	blood:	n/a	n/a
30	MYC	chr2:151022847-151023399	K562	blood:	n/a	n/a
31	ATF1	chr2:151022603-151023539	K562	blood:	n/a	n/a
32	SIX5	chr2:151022600-151023643	A549	lung:	n/a	chr2:151023493-151023509
33	GATA3	chr2:151023204-151023543	T-47D	breast:	n/a	n/a
34	ARID3A	chr2:151022952-151023612	K562	blood:	n/a	n/a
35	FOS	chr2:151023296-151023505	MCF10A-Er-Src	breast:	n/a	n/a
36	MAX	chr2:151022705-151023423	A549	lung:	n/a	n/a
37	EP300	chr2:151022348-151023698	A549	lung:	n/a	chr2:151022688-151022702 chr2:151022936-151022946 chr2:151023120-151023127
38	EP300	chr2:151023047-151023380	SK-N-SH_RA	brain:	n/a	chr2:151023120-151023127
39	MAFF	chr2:151022921-151023553	K562	blood:	n/a	n/a
40	REST	chr2:151022479-151023415	A549	lung:	n/a	n/a
41	JUND	chr2:151022684-151023598	T-47D	breast:	n/a	n/a
42	GATA3	chr2:151022407-151023593	MCF-7	breast:	n/a	n/a
43	SIN3AK20	chr2:151022542-151023457	MCF-7	breast:	n/a	n/a
44	FOXA2	chr2:151022567-151023406	A549	lung:	n/a	n/a
45	FOXP2	chr2:151023197-151023400	SK-N-MC	brain:	n/a	n/a
46	TCF7L2	chr2:151022649-151023617	PANC-1	pancreas:	n/a	n/a
47	FOXP2	chr2:151023176-151023566	SK-N-MC	brain:	n/a	n/a
48	IRF1	chr2:151022983-151023518	K562	blood:	n/a	n/a
49	POLR2A	chr2:151022904-151023579	K562	blood:	n/a	n/a
50	CUX1	chr2:151022939-151023547	K562	blood:	n/a	chr2:151023149-151023163

No.	Distal block	Cell Line	Cell type
1	chr2:151018984..151021461-chr2:151021617..151024029,2	K562	blood:
2	chr2:151021749..151023909-chr2:151069571..151071445,2	MCF-7	breast:
3	chr2:151020603..151025476-chr2:151341674..151344465,7	MCF-7	breast:
4	chr2:151022613..151024999-chr2:151332492..151334061,2	MCF-7	breast:
5	chr2:151022947..151025702-chr2:151341739..151344961,4	MCF-7	breast:
6	chr2:150848914..150851850-chr2:151022945..151025102,2	MCF-7	breast:
7	chr2:151015440..151017637-chr2:151020964..151024352,3	MCF-7	breast:
8	chr2:150988564..150990849-chr2:151022615..151025266,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000230645	TF binding region
ENSG00000115963	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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	nsv1005441	chr2:150457624-151060247	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv995119	chr2:150556150-151294696	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv1001838	chr2:150819672-151745876	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
4	nsv535980	chr2:150819672-151745876	Enhancers Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
5	nsv469524	chr2:150927500-151076920	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
6	nsv834412	chr2:151014270-151116638	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv583294	chr2:151022044-151037893	Weak transcription Active TSS Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:151013400-151023800	Weak transcription	Fetal Brain Male	brain
2	chr2:151017200-151024000	Weak transcription	NHDF-Ad	bronchial
3	chr2:151021800-151023400	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr2:151021800-151023400	Enhancers	Colon Smooth Muscle	Colon
5	chr2:151021800-151026200	Enhancers	NH-A	brain
6	chr2:151021800-151026800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr2:151022000-151023600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr2:151022200-151026000	Enhancers	HMEC	breast
9	chr2:151022200-151026400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr2:151022200-151026400	Enhancers	Osteobl	bone
11	chr2:151022400-151023600	Flanking Active TSS	A549	lung
12	chr2:151022600-151023400	Enhancers	Brain Germinal Matrix	brain
13	chr2:151022600-151024800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr2:151022600-151025400	Enhancers	HUVEC	blood vessel
15	chr2:151022600-151025400	Enhancers	NHEK	skin
16	chr2:151022600-151025800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr2:151022600-151026400	Enhancers	Muscle Satellite Cultured Cells	--
18	chr2:151022800-151023400	Flanking Active TSS	K562	blood
19	chr2:151022800-151023600	Enhancers	Adipose Nuclei	Adipose
20	chr2:151023000-151023400	Flanking Active TSS	Liver	Liver
21	chr2:151023000-151023400	Enhancers	Fetal Stomach	stomach
22	chr2:151023000-151023600	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr2:151023000-151024000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr2:151023000-151024000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr2:151023000-151024200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr2:151023000-151024200	Weak transcription	Stomach Mucosa	stomach
27	chr2:151023200-151024200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr2:151023200-151024200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr2:151023200-151024200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr2:151023200-151024200	Weak transcription	Esophagus	oesophagus
31	chr2:151023200-151024200	Weak transcription	HSMM	muscle
32	chr2:151023200-151024200	Weak transcription	HSMMtube	muscle
33	chr2:151023200-151024200	Weak transcription	NHLF	lung
34	chr2:151023200-151025200	Weak transcription	Stomach Smooth Muscle	stomach
35	chr2:151023200-151025400	Weak transcription	Rectal Smooth Muscle	rectum
36	chr2:151023200-151026000	Weak transcription	Aorta	Aorta
37	chr2:151023200-151026000	Weak transcription	Pancreas	Pancrea
38	chr2:151023200-151026200	Enhancers	Hela-S3	cervix

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