Variant report

Variant	rs142913271
Chromosome Location	chr2:48132434-48132435
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	TBP	chr2:48132257-48132435	HepG2	liver:	n/a	n/a
2	POLR2A	chr2:48131965-48134239	MCF-7	breast:	n/a	n/a
3	POLR2A	chr2:48132121-48134374	HL-60	blood:	n/a	n/a
4	POLR2A	chr2:48132225-48132517	ECC-1	luminal epithelium:	n/a	n/a
5	MXI1	chr2:48129427-48135299	SK-N-SH	brain:	n/a	n/a
6	SIN3A	chr2:48131519-48135136	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr2:48132422-48132567	MCF10A-Er-Src	breast:	n/a	n/a
8	POLR2A	chr2:48132424-48134295	NB4	blood:	n/a	n/a
9	POLR2A	chr2:48131404-48132517	SK-N-MC	brain:	n/a	n/a
10	POLR2A	chr2:48131954-48132548	GM12878	blood:	n/a	n/a
11	CTCF	chr2:48132340-48132490	AG04449	skin:	n/a	n/a
12	POLR2A	chr2:48131968-48132518	H1-hESC	embryonic stem cell:	n/a	n/a
13	EGR1	chr2:48132347-48132539	GM12878	blood:	n/a	chr2:48132357-48132370 chr2:48132492-48132505
14	EGR1	chr2:48132192-48133067	K562	blood:	n/a	chr2:48132300-48132310 chr2:48132217-48132227 chr2:48133001-48133014 chr2:48132713-48132727 chr2:48132677-48132691 chr2:48132357-48132370 chr2:48132492-48132505
15	POLR2A	chr2:48131327-48132521	H1-hESC	embryonic stem cell:	n/a	n/a
16	TAF1	chr2:48132360-48132504	GM12892	blood:	n/a	n/a
17	POLR2A	chr2:48131593-48134406	GM18526	blood:	n/a	n/a
18	TAF1	chr2:48132305-48132526	HepG2	liver:	n/a	n/a
19	UBTF	chr2:48131502-48134274	K562	blood:	n/a	n/a
20	HEY1	chr2:48131848-48132507	HepG2	liver:	n/a	n/a
21	POLR2A	chr2:48131426-48134396	H1-neurons	neurons:	n/a	n/a
22	TAF1	chr2:48131992-48132578	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr2:48131476-48134441	Raji	blood:	n/a	n/a
24	CCNT2	chr2:48132212-48134249	K562	blood:	n/a	n/a
25	POLR2A	chr2:48131698-48132537	GM12878	blood:	n/a	n/a
26	POLR2A	chr2:48131924-48134360	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr2:48132376-48132499	HUVEC	blood vessel:	n/a	n/a
28	POLR2A	chr2:48131613-48134344	GM19193	blood:	n/a	n/a
29	POLR2A	chr2:48132335-48134306	ProgFib	skin:	n/a	n/a
30	YY1	chr2:48132270-48132506	GM12878	blood:	n/a	n/a
31	MYC	chr2:48132204-48132656	NB4	blood:	n/a	chr2:48132299-48132309
32	CTCF	chr2:48132320-48132470	SK-N-SH_RA	brain:	n/a	n/a
33	CHD1	chr2:48132198-48132492	H1-hESC	embryonic stem cell:	n/a	n/a
34	ZNF143	chr2:48132342-48132482	GM12878	blood:	n/a	n/a
35	EGR1	chr2:48132343-48132997	K562	blood:	n/a	chr2:48132713-48132727 chr2:48132677-48132691 chr2:48132357-48132370 chr2:48132492-48132505
36	YY1	chr2:48132230-48133007	HepG2	liver:	n/a	chr2:48132526-48132540 chr2:48132523-48132537
37	POLR2A	chr2:48131458-48134329	Hela-S3	cervix:	n/a	n/a
38	POLR2A	chr2:48131448-48132535	Hela-S3	cervix:	n/a	n/a
39	POLR2A	chr2:48132010-48134354	GM12892	blood:	n/a	n/a
40	CHD2	chr2:48131363-48133031	GM12878	blood:	n/a	chr2:48133007-48133017
41	CTCF	chr2:48131162-48134704	SK-N-SH	brain:	n/a	chr2:48132520-48132533
42	MYBL2	chr2:48132011-48132527	HepG2	liver:	n/a	n/a
43	TAF1	chr2:48132059-48134267	ECC-1	luminal epithelium:	n/a	n/a
44	MAZ	chr2:48131658-48132439	Hela-S3	cervix:	n/a	chr2:48131904-48131914 chr2:48132299-48132309
45	POLR2A	chr2:48132363-48133315	A549	lung:	n/a	n/a
46	POLR2A	chr2:48131925-48132655	K562	blood:	n/a	n/a
47	POLR2A	chr2:48131980-48132507	H1-hESC	embryonic stem cell:	n/a	n/a
48	MAZ	chr2:48131428-48132491	GM12878	blood:	n/a	chr2:48131904-48131914 chr2:48132299-48132309
49	CHD1	chr2:48131268-48132479	GM12878	blood:	n/a	n/a
50	YY1	chr2:48132249-48132514	GM12892	blood:	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
FBXO11	TF binding region
ENSG00000272663	Chromatin interaction
ENSG00000162869	Chromatin interaction
ENSG00000116062	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 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
9	esv3448396	chr2:48131848-48135396	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 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	chr2:48129800-48134400	Active TSS	K562	blood
7	chr2:48129800-48134600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr2:48129800-48134800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr2:48129800-48134800	Active TSS	Breast Myoepithelial Primary Cells	Breast
10	chr2:48129800-48135200	Active TSS	HUES48 Cell Line	embryonic stem cell
11	chr2:48130000-48134400	Active TSS	Rectal Mucosa Donor 29	rectum
12	chr2:48130000-48134600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr2:48130000-48135000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr2:48130200-48134600	Active TSS	NHDF-Ad	bronchial
15	chr2:48130200-48134800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr2:48130200-48134800	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr2:48130200-48135000	Active TSS	HSMMtube	muscle
18	chr2:48130400-48134400	Active TSS	Fetal Intestine Small	intestine
19	chr2:48130400-48134400	Active TSS	Stomach Smooth Muscle	stomach
20	chr2:48130400-48134600	Active TSS	Brain Angular Gyrus	brain
21	chr2:48130400-48134600	Active TSS	Brain Cingulate Gyrus	brain
22	chr2:48130400-48134600	Active TSS	Colon Smooth Muscle	Colon
23	chr2:48130400-48134600	Active TSS	Right Ventricle	heart
24	chr2:48130400-48134800	Active TSS	ES-I3 Cell Line	embryonic stem cell
25	chr2:48130400-48134800	Active TSS	Aorta	Aorta
26	chr2:48130400-48134800	Active TSS	Psoas Muscle	Psoas
27	chr2:48130400-48134800	Active TSS	HMEC	breast
28	chr2:48130600-48134200	Active TSS	Fetal Muscle Leg	muscle
29	chr2:48130600-48134400	Active TSS	Primary monocytes fromperipheralblood	blood
30	chr2:48130600-48134400	Active TSS	Primary T killer memory cells from peripheral blood	blood
31	chr2:48130600-48134400	Active TSS	Fetal Kidney	kidney
32	chr2:48130600-48134600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
33	chr2:48130600-48134600	Active TSS	Fetal Intestine Large	intestine
34	chr2:48130600-48134600	Active TSS	Fetal Lung	lung
35	chr2:48130600-48134600	Active TSS	Hela-S3	cervix
36	chr2:48130600-48134800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr2:48130600-48135000	Active TSS	HUES6 Cell Line	embryonic stem cell
38	chr2:48130600-48135200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr2:48130800-48134000	Active TSS	Fetal Thymus	thymus
40	chr2:48130800-48134200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr2:48130800-48134200	Active TSS	Primary T helper cells PMA-I stimulated	--
42	chr2:48130800-48134400	Active TSS	Primary hematopoietic stem cells short term culture	blood
43	chr2:48130800-48134400	Active TSS	Fetal Stomach	stomach
44	chr2:48130800-48134400	Active TSS	NHEK	skin
45	chr2:48130800-48134600	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
46	chr2:48130800-48134600	Active TSS	Muscle Satellite Cultured Cells	--
47	chr2:48130800-48134600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr2:48130800-48134600	Active TSS	Brain Anterior Caudate	brain
49	chr2:48130800-48134600	Active TSS	Thymus	Thymus
50	chr2:48130800-48134600	Active TSS	A549	lung

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