Variant report

Variant	rs568946164
Chromosome Location	chr2:48131698-48131699
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	ZBTB7A	chr2:48131695-48132175	HepG2	liver:	n/a	chr2:48131835-48131846 chr2:48131789-48131796
2	MXI1	chr2:48129427-48135299	SK-N-SH	brain:	n/a	n/a
3	TBL1XR1	chr2:48131480-48131722	GM12878	blood:	n/a	n/a
4	SIN3A	chr2:48131519-48135136	H1-hESC	embryonic stem cell:	n/a	n/a
5	YY1	chr2:48131409-48132317	SK-N-SH_RA	brain:	n/a	chr2:48132069-48132078
6	POLR2A	chr2:48131404-48132517	SK-N-MC	brain:	n/a	n/a
7	GTF2F1	chr2:48131465-48132099	Hela-S3	cervix:	n/a	n/a
8	MAX	chr2:48131666-48131940	K562	blood:	n/a	chr2:48131904-48131914
9	MYBL2	chr2:48131411-48131946	HepG2	liver:	n/a	n/a
10	POLR2A	chr2:48131582-48131894	K562	blood:	n/a	n/a
11	POLR2A	chr2:48131596-48131849	HepG2	liver:	n/a	n/a
12	POLR2A	chr2:48131327-48132521	H1-hESC	embryonic stem cell:	n/a	n/a
13	MYC	chr2:48131169-48131900	MCF10A-Er-Src	breast:	n/a	n/a
14	REST	chr2:48131540-48131857	SK-N-SH	brain:	n/a	n/a
15	POLR2A	chr2:48131681-48131879	K562	blood:	n/a	n/a
16	MAZ	chr2:48131480-48132430	HepG2	liver:	n/a	chr2:48131904-48131914 chr2:48132299-48132309
17	EBF1	chr2:48131597-48131911	GM12878	blood:	n/a	chr2:48131766-48131777
18	MAX	chr2:48131340-48131806	A549	lung:	n/a	n/a
19	POLR2A	chr2:48131515-48131891	Hela-S3	cervix:	n/a	n/a
20	ELF1	chr2:48131665-48132058	GM12878	blood:	n/a	n/a
21	POLR2A	chr2:48131593-48134406	GM18526	blood:	n/a	n/a
22	EBF1	chr2:48131558-48131923	GM12878	blood:	n/a	chr2:48131766-48131777
23	HDAC2	chr2:48131447-48132200	HepG2	liver:	n/a	n/a
24	UBTF	chr2:48131502-48134274	K562	blood:	n/a	n/a
25	ZBTB7A	chr2:48131651-48131979	K562	blood:	n/a	chr2:48131835-48131846 chr2:48131789-48131796
26	FOXA2	chr2:48131589-48132097	A549	lung:	n/a	chr2:48131935-48131947
27	POLR2A	chr2:48131426-48134396	H1-neurons	neurons:	n/a	n/a
28	POLR2A	chr2:48131696-48131874	ProgFib	skin:	n/a	n/a
29	E2F4	chr2:48131655-48131855	MCF10A-Er-Src	breast:	n/a	n/a
30	POLR2A	chr2:48131476-48134441	Raji	blood:	n/a	n/a
31	POLR2A	chr2:48131698-48132537	GM12878	blood:	n/a	n/a
32	MYC	chr2:48131385-48131976	K562	blood:	n/a	chr2:48131904-48131914
33	MXI1	chr2:48131550-48131948	K562	blood:	n/a	n/a
34	POLR2A	chr2:48131613-48134344	GM19193	blood:	n/a	n/a
35	ZNF143	chr2:48131630-48132084	GM12878	blood:	n/a	n/a
36	EBF1	chr2:48131484-48132088	GM12878	blood:	n/a	chr2:48131766-48131777
37	YY1	chr2:48131679-48132088	A549	lung:	n/a	chr2:48132069-48132078
38	MAX	chr2:48131511-48132401	NB4	blood:	n/a	chr2:48131904-48131914 chr2:48132299-48132309
39	POLR2A	chr2:48131455-48131961	GM12878	blood:	n/a	n/a
40	MYC	chr2:48131688-48131833	MCF-7	breast:	n/a	n/a
41	YY1	chr2:48131428-48132040	SK-N-SH_RA	brain:	n/a	n/a
42	SIN3AK20	chr2:48131512-48131791	K562	blood:	n/a	n/a
43	MYC	chr2:48131670-48131943	MCF-7	breast:	n/a	chr2:48131904-48131914
44	TBP	chr2:48131143-48131970	K562	blood:	n/a	n/a
45	WRNIP1	chr2:48131416-48132362	GM12878	blood:	n/a	n/a
46	RFX5	chr2:48130946-48132262	Hela-S3	cervix:	n/a	n/a
47	MAX	chr2:48131431-48132248	K562	blood:	n/a	chr2:48131904-48131914
48	POLR2A	chr2:48131458-48134329	Hela-S3	cervix:	n/a	n/a
49	SIN3AK20	chr2:48131467-48131904	PANC-1	pancreas:	n/a	n/a
50	ARID3A	chr2:48131289-48131850	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:48009564..48012056-chr2:48131613..48133953,3	MCF-7	breast:
2	chr2:48008927..48012318-chr2:48131369..48134669,5	MCF-7	breast:
3	chr2:48131056..48133889-chr2:48666649..48669305,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000233230	TF binding region
ENSG00000162869	Chromatin interaction
ENSG00000116062	Chromatin interaction
ENSG00000272663	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1009769	chr2:47972642-48509765	Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv535680	chr2:47972642-48509765	Genic enhancers Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv530831	chr2:48059709-48632317	Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
4	nsv519831	chr2:48072855-48566031	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv523013	chr2:48073117-48146122	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv874000	chr2:48078838-48291582	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	nsv1003766	chr2:48102244-48559654	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
8	esv3343488	chr2:48131473-48134321	Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48129200-48134600	Active TSS	GM12878-XiMat	blood
2	chr2:48129400-48134400	Active TSS	Ovary	ovary
3	chr2:48129600-48134600	Active TSS	NHLF	lung
4	chr2:48129600-48134800	Active TSS	Right Atrium	heart
5	chr2:48129600-48135000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr2:48129800-48132000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr2:48129800-48132000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr2:48129800-48134400	Active TSS	K562	blood
9	chr2:48129800-48134600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr2:48129800-48134800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr2:48129800-48134800	Active TSS	Breast Myoepithelial Primary Cells	Breast
12	chr2:48129800-48135200	Active TSS	HUES48 Cell Line	embryonic stem cell
13	chr2:48130000-48132000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr2:48130000-48134400	Active TSS	Rectal Mucosa Donor 29	rectum
15	chr2:48130000-48134600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr2:48130000-48135000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr2:48130200-48131800	Active TSS	Fetal Brain Male	brain
18	chr2:48130200-48134600	Active TSS	NHDF-Ad	bronchial
19	chr2:48130200-48134800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr2:48130200-48134800	Active TSS	Pancreatic Islets	Pancreatic Islet
21	chr2:48130200-48135000	Active TSS	HSMMtube	muscle
22	chr2:48130400-48131800	Active TSS	Brain Germinal Matrix	brain
23	chr2:48130400-48132000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
24	chr2:48130400-48134400	Active TSS	Fetal Intestine Small	intestine
25	chr2:48130400-48134400	Active TSS	Stomach Smooth Muscle	stomach
26	chr2:48130400-48134600	Active TSS	Brain Angular Gyrus	brain
27	chr2:48130400-48134600	Active TSS	Brain Cingulate Gyrus	brain
28	chr2:48130400-48134600	Active TSS	Colon Smooth Muscle	Colon
29	chr2:48130400-48134600	Active TSS	Right Ventricle	heart
30	chr2:48130400-48134800	Active TSS	ES-I3 Cell Line	embryonic stem cell
31	chr2:48130400-48134800	Active TSS	Aorta	Aorta
32	chr2:48130400-48134800	Active TSS	Psoas Muscle	Psoas
33	chr2:48130400-48134800	Active TSS	HMEC	breast
34	chr2:48130600-48132000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr2:48130600-48134200	Active TSS	Fetal Muscle Leg	muscle
36	chr2:48130600-48134400	Active TSS	Primary monocytes fromperipheralblood	blood
37	chr2:48130600-48134400	Active TSS	Primary T killer memory cells from peripheral blood	blood
38	chr2:48130600-48134400	Active TSS	Fetal Kidney	kidney
39	chr2:48130600-48134600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
40	chr2:48130600-48134600	Active TSS	Fetal Intestine Large	intestine
41	chr2:48130600-48134600	Active TSS	Fetal Lung	lung
42	chr2:48130600-48134600	Active TSS	Hela-S3	cervix
43	chr2:48130600-48134800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr2:48130600-48135000	Active TSS	HUES6 Cell Line	embryonic stem cell
45	chr2:48130600-48135200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr2:48130800-48131800	Flanking Active TSS	Primary B cells from cord blood	blood
47	chr2:48130800-48131800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
48	chr2:48130800-48131800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
49	chr2:48130800-48134000	Active TSS	Fetal Thymus	thymus
50	chr2:48130800-48134200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived

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