Variant report

Variant	rs115421275
Chromosome Location	chr2:74006625-74006626
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	WRNIP1	chr2:74006585-74007486	GM12878	blood:	n/a	n/a
2	POLR2A	chr2:74006556-74007505	GM12891	blood:	n/a	n/a
3	SIN3AK20	chr2:74006608-74007431	A549	lung:	n/a	n/a
4	POLR2A	chr2:74006559-74007404	IMR90	lung:	n/a	n/a
5	TBP	chr2:74006567-74007554	Hela-S3	cervix:	n/a	n/a
6	MAX	chr2:74006549-74007514	MCF-7	breast:	n/a	chr2:74007426-74007435
7	POLR2A	chr2:74006222-74007581	HUVEC	blood vessel:	n/a	n/a
8	TEAD4	chr2:74006497-74007522	K562	blood:	n/a	n/a
9	YY1	chr2:74006561-74007492	H1-hESC	embryonic stem cell:	n/a	n/a
10	RUNX3	chr2:74006554-74007503	GM12878	blood:	n/a	chr2:74006926-74006935
11	ZC3H11A	chr2:74006590-74007463	K562	blood:	n/a	n/a
12	FOS	chr2:74006597-74006791	MCF10A-Er-Src	breast:	n/a	n/a
13	POLR2A	chr2:74006573-74007499	GM12878	blood:	n/a	n/a
14	MAX	chr2:74006515-74007711	A549	lung:	n/a	chr2:74007426-74007435
15	YY1	chr2:74006545-74007426	K562	blood:	n/a	n/a
16	MYC	chr2:74006415-74007505	K562	blood:	n/a	chr2:74007426-74007435
17	RAD21	chr2:74006525-74007534	SK-N-SH	brain:	n/a	n/a
18	CTCF	chr2:74006211-74007829	A549	lung:	n/a	n/a
19	POLR2A	chr2:74006536-74007476	Hela-S3	cervix:	n/a	n/a
20	RFX5	chr2:74006499-74007550	Hela-S3	cervix:	n/a	chr2:74006899-74006914 chr2:74006898-74006915
21	CHD1	chr2:74006490-74007220	H1-hESC	embryonic stem cell:	n/a	n/a
22	SIN3A	chr2:74006584-74007445	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr2:74006491-74007568	Hela-S3	cervix:	n/a	n/a
24	POLR2A	chr2:74006527-74007410	MCF10A-Er-Src	breast:	n/a	n/a
25	ZNF263	chr2:74006598-74007500	HEK293-T-REx	kidney:	n/a	n/a
26	CTCF	chr2:74006500-74006650	AG04449	skin:	n/a	n/a
27	POLR2A	chr2:74006472-74007486	HepG2	liver:	n/a	n/a
28	MTA3	chr2:74006617-74007579	GM12878	blood:	n/a	n/a
29	MXI1	chr2:74006472-74007533	GM12878	blood:	n/a	n/a
30	MYBL2	chr2:74006517-74007598	HepG2	liver:	n/a	n/a
31	POLR2A	chr2:74006488-74007563	H1-hESC	embryonic stem cell:	n/a	n/a
32	RFX5	chr2:74006546-74007416	HepG2	liver:	n/a	chr2:74006899-74006914 chr2:74006898-74006915
33	MAX	chr2:74006610-74007595	A549	lung:	n/a	chr2:74007426-74007435
34	MXI1	chr2:74006568-74007522	Hela-S3	cervix:	n/a	n/a
35	NFIC	chr2:74006569-74007465	HepG2	liver:	n/a	n/a
36	REST	chr2:74006526-74007519	A549	lung:	n/a	n/a
37	POLR2A	chr2:74006582-74007486	ProgFib	skin:	n/a	n/a
38	BCL3	chr2:74006599-74007543	A549	lung:	n/a	chr2:74007320-74007328
39	MXI1	chr2:74006145-74008151	SK-N-SH	brain:	n/a	n/a
40	RFX5	chr2:74006404-74008138	SK-N-SH	brain:	n/a	chr2:74006899-74006914 chr2:74006898-74006915
41	CEBPB	chr2:74006624-74007459	Hela-S3	cervix:	n/a	n/a
42	FOXM1	chr2:74006590-74007414	GM12878	blood:	n/a	n/a
43	REST	chr2:74006543-74007662	H1-neurons	neurons:	n/a	n/a
44	CTCF	chr2:74006463-74007767	SK-N-SH	brain:	n/a	n/a
45	MYC	chr2:74006427-74007502	MCF10A-Er-Src	breast:	n/a	chr2:74007426-74007435
46	MAX	chr2:74006488-74007591	Hela-S3	cervix:	n/a	chr2:74007426-74007435
47	SIN3AK20	chr2:74006410-74007683	MCF-7	breast:	n/a	n/a
48	MXI1	chr2:74006241-74007694	IMR90	lung:	n/a	n/a
49	CHD1	chr2:74006596-74007481	GM12878	blood:	n/a	n/a
50	POLR2A	chr2:74006580-74007487	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:73963771..73965386-chr2:74005336..74008448,3	MCF-7	breast:
2	chr2:74004444..74007409-chr2:74053786..74057952,3	K562	blood:
3	chr15:91259827..91260516-chr2:74006481..74007325,2	Hela-S3	cervix:
4	chr2:73964502..73966089-chr2:74005861..74007990,2	MCF-7	breast:
5	chr2:74003041..74008140-chr2:74055591..74058388,4	MCF-7	breast:
6	chr2:74005698..74008068-chr2:74153454..74156032,2	K562	blood:

Variant related genes	Relation type
C2orf78	TF binding region
ENSG00000114956	Chromatin interaction
ENSG00000124356	Chromatin interaction
ENSG00000259736	Chromatin interaction
ENSG00000144034	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	nsv428051	chr2:73717032-74030067	ZNF genes & repeats Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	esv2757806	chr2:73717032-74078592	Active TSS Weak transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS Strong transcription 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	36 gene(s)	inside rSNPs	diseases
3	esv2759060	chr2:73717032-74078592	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Active TSS 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
4	nsv1013385	chr2:73822056-74041441	Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv834260	chr2:73906106-74076520	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
6	nsv1000675	chr2:73919185-74038946	Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
7	nsv2780	chr2:73994168-74057248	Enhancers Active TSS Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
8	esv1828210	chr2:74005068-74038451	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 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	chr2:74004800-74007400	Active TSS	GM12878-XiMat	blood
2	chr2:74005200-74007600	Active TSS	NHLF	lung
3	chr2:74005400-74007000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
4	chr2:74005400-74007000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr2:74005400-74007200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
6	chr2:74005400-74007200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr2:74005400-74007400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr2:74005400-74007600	Active TSS	ES-I3 Cell Line	embryonic stem cell
9	chr2:74005400-74007600	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr2:74005400-74007600	Active TSS	Rectal Mucosa Donor 29	rectum
11	chr2:74005600-74007000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
12	chr2:74005600-74007200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
13	chr2:74005600-74007400	Active TSS	H9 Cell Line	embryonic stem cell
14	chr2:74005600-74007400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr2:74005600-74007400	Active TSS	iPS-18 Cell Line	embryonic stem cell
16	chr2:74005600-74007400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr2:74005600-74007400	Active TSS	Lung	lung
18	chr2:74005600-74007600	Active TSS	HUES48 Cell Line	embryonic stem cell
19	chr2:74005600-74007600	Active TSS	HUES64 Cell Line	embryonic stem cell
20	chr2:74005600-74007600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr2:74005600-74007600	Active TSS	Psoas Muscle	Psoas
22	chr2:74005600-74007600	Active TSS	HSMMtube	muscle
23	chr2:74005800-74006800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr2:74005800-74006800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
25	chr2:74005800-74007400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr2:74005800-74007400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr2:74005800-74007400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr2:74005800-74007400	Active TSS	HMEC	breast
29	chr2:74005800-74007400	Active TSS	HSMM	muscle
30	chr2:74005800-74007400	Active TSS	NHEK	skin
31	chr2:74005800-74007600	Active TSS	HUES6 Cell Line	embryonic stem cell
32	chr2:74005800-74007600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr2:74005800-74007600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
34	chr2:74005800-74007600	Active TSS	Fetal Kidney	kidney
35	chr2:74005800-74007600	Active TSS	Ovary	ovary
36	chr2:74005800-74007600	Active TSS	Rectal Smooth Muscle	rectum
37	chr2:74005800-74007600	Active TSS	Thymus	Thymus
38	chr2:74005800-74007600	Active TSS	K562	blood
39	chr2:74005800-74007800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr2:74005800-74007800	Active TSS	iPS-15b Cell Line	embryonic stem cell
41	chr2:74005800-74007800	Active TSS	Breast Myoepithelial Primary Cells	Breast
42	chr2:74006000-74007400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr2:74006000-74007400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr2:74006000-74007400	Active TSS	Esophagus	oesophagus
45	chr2:74006000-74007400	Active TSS	A549	lung
46	chr2:74006000-74007400	Active TSS	NHDF-Ad	bronchial
47	chr2:74006000-74007400	Active TSS	Osteobl	bone
48	chr2:74006000-74007600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr2:74006000-74007600	Active TSS	Muscle Satellite Cultured Cells	--
50	chr2:74006000-74007600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links