Variant report

Variant	rs141372435
Chromosome Location	chr2:151023542-151023543
allele	C/T
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	JUN	chr2:151022479-151024829	K562	blood:	n/a	chr2:151024331-151024340 chr2:151024330-151024339 chr2:151024331-151024339 chr2:151024332-151024339
2	GATA3	chr2:151022625-151023603	MCF-7	breast:	n/a	n/a
3	NR2F2	chr2:151022883-151023612	K562	blood:	n/a	n/a
4	SP1	chr2:151022500-151023612	A549	lung:	n/a	n/a
5	TCF12	chr2:151022353-151023716	A549	lung:	n/a	n/a
6	GATA3	chr2:151021965-151023762	A549	lung:	n/a	n/a
7	EP300	chr2:151022391-151023559	A549	lung:	n/a	chr2:151022688-151022702 chr2:151022936-151022946 chr2:151023120-151023127
8	RCOR1	chr2:151022513-151023563	K562	blood:	n/a	n/a
9	EP300	chr2:151022522-151023563	K562	blood:	n/a	chr2:151022688-151022702 chr2:151022936-151022946 chr2:151023120-151023127
10	SIX5	chr2:151022600-151023643	A549	lung:	n/a	chr2:151023493-151023509
11	GATA3	chr2:151023204-151023543	T-47D	breast:	n/a	n/a
12	ARID3A	chr2:151022952-151023612	K562	blood:	n/a	n/a
13	EP300	chr2:151022348-151023698	A549	lung:	n/a	chr2:151022688-151022702 chr2:151022936-151022946 chr2:151023120-151023127
14	MAFF	chr2:151022921-151023553	K562	blood:	n/a	n/a
15	JUND	chr2:151022684-151023598	T-47D	breast:	n/a	n/a
16	GATA3	chr2:151022407-151023593	MCF-7	breast:	n/a	n/a
17	TCF7L2	chr2:151022649-151023617	PANC-1	pancreas:	n/a	n/a
18	FOXP2	chr2:151023176-151023566	SK-N-MC	brain:	n/a	n/a
19	POLR2A	chr2:151022904-151023579	K562	blood:	n/a	n/a
20	CUX1	chr2:151022939-151023547	K562	blood:	n/a	chr2:151023149-151023163
21	TEAD4	chr2:151022609-151023614	K562	blood:	n/a	n/a
22	SP1	chr2:151022462-151023597	A549	lung:	n/a	n/a
23	MAX	chr2:151022455-151023554	A549	lung:	n/a	n/a
24	MYC	chr2:151022569-151023546	K562	blood:	n/a	n/a

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:36 , 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	chr2:151021800-151026200	Enhancers	NH-A	brain
4	chr2:151021800-151026800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr2:151022000-151023600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr2:151022200-151026000	Enhancers	HMEC	breast
7	chr2:151022200-151026400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr2:151022200-151026400	Enhancers	Osteobl	bone
9	chr2:151022400-151023600	Flanking Active TSS	A549	lung
10	chr2:151022600-151024800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr2:151022600-151025400	Enhancers	HUVEC	blood vessel
12	chr2:151022600-151025400	Enhancers	NHEK	skin
13	chr2:151022600-151025800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr2:151022600-151026400	Enhancers	Muscle Satellite Cultured Cells	--
15	chr2:151022800-151023600	Enhancers	Adipose Nuclei	Adipose
16	chr2:151023000-151023600	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr2:151023000-151024000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr2:151023000-151024000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr2:151023000-151024200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr2:151023000-151024200	Weak transcription	Stomach Mucosa	stomach
21	chr2:151023200-151024200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr2:151023200-151024200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr2:151023200-151024200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr2:151023200-151024200	Weak transcription	Esophagus	oesophagus
25	chr2:151023200-151024200	Weak transcription	HSMM	muscle
26	chr2:151023200-151024200	Weak transcription	HSMMtube	muscle
27	chr2:151023200-151024200	Weak transcription	NHLF	lung
28	chr2:151023200-151025200	Weak transcription	Stomach Smooth Muscle	stomach
29	chr2:151023200-151025400	Weak transcription	Rectal Smooth Muscle	rectum
30	chr2:151023200-151026000	Weak transcription	Aorta	Aorta
31	chr2:151023200-151026000	Weak transcription	Pancreas	Pancrea
32	chr2:151023200-151026200	Enhancers	Hela-S3	cervix
33	chr2:151023400-151024200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr2:151023400-151025200	Weak transcription	Colon Smooth Muscle	Colon
35	chr2:151023400-151025400	Enhancers	K562	blood
36	chr2:151023400-151026000	Enhancers	Liver	Liver

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