Variant report

Variant	rs147104380
Chromosome Location	chr5:61601290-61601291
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	NR2F2	chr5:61601096-61602031	K562	blood:	n/a	n/a
2	HCFC1	chr5:61600977-61603460	Hela-S3	cervix:	n/a	n/a
3	CHD2	chr5:61601096-61603020	K562	blood:	n/a	n/a
4	RELA	chr5:61601134-61602057	GM19099	blood:	n/a	n/a
5	MAX	chr5:61601096-61601966	H1-hESC	embryonic stem cell:	n/a	chr5:61601694-61601707 chr5:61601696-61601706 chr5:61601695-61601704 chr5:61601695-61601705 chr5:61601694-61601704 chr5:61601694-61601707 chr5:61601695-61601706 chr5:61601696-61601706 chr5:61601695-61601705 chr5:61601694-61601707 chr5:61601696-61601705 chr5:61601696-61601705 chr5:61601913-61601923 chr5:61601694-61601707 chr5:61601696-61601705 chr5:61601695-61601706 chr5:61601695-61601706
6	POLR2A	chr5:61601099-61603376	GM12878	blood:	n/a	n/a
7	ZMIZ1	chr5:61601189-61602263	K562	blood:	n/a	n/a
8	RFX5	chr5:61601213-61602452	Hela-S3	cervix:	n/a	n/a
9	POLR2A	chr5:61601216-61603207	K562	blood:	n/a	n/a
10	MAX	chr5:61601151-61603321	K562	blood:	n/a	chr5:61601694-61601707 chr5:61601696-61601706 chr5:61601695-61601704 chr5:61601695-61601705 chr5:61602701-61602711 chr5:61601694-61601704 chr5:61601694-61601707 chr5:61601695-61601706 chr5:61601696-61601706 chr5:61601695-61601705 chr5:61601694-61601707 chr5:61601696-61601705 chr5:61601696-61601705 chr5:61601913-61601923 chr5:61601694-61601707 chr5:61601696-61601705 chr5:61601695-61601706 chr5:61601695-61601706
11	MYC	chr5:61601030-61603307	NB4	blood:	n/a	chr5:61601694-61601707 chr5:61601696-61601706 chr5:61601695-61601704 chr5:61601695-61601705 chr5:61602701-61602711 chr5:61601694-61601704 chr5:61601694-61601707 chr5:61601695-61601706 chr5:61601696-61601706 chr5:61601695-61601705 chr5:61601694-61601707 chr5:61601696-61601705 chr5:61601696-61601705 chr5:61601913-61601923 chr5:61601694-61601707 chr5:61601696-61601705 chr5:61601695-61601706 chr5:61601695-61601706
12	POLR2A	chr5:61601043-61603386	GM12891	blood:	n/a	n/a
13	POLR2A	chr5:61601211-61603351	GM12892	blood:	n/a	n/a
14	MYC	chr5:61601134-61602537	K562	blood:	n/a	chr5:61601694-61601707 chr5:61601696-61601706 chr5:61601695-61601704 chr5:61601695-61601705 chr5:61601694-61601704 chr5:61601694-61601707 chr5:61601695-61601706 chr5:61601696-61601706 chr5:61601695-61601705 chr5:61601694-61601707 chr5:61601696-61601705 chr5:61601696-61601705 chr5:61601913-61601923 chr5:61601694-61601707 chr5:61601696-61601705 chr5:61601695-61601706 chr5:61601695-61601706
15	TBL1XR1	chr5:61601045-61601982	K562	blood:	n/a	n/a
16	CTCF	chr5:61601264-61602093	K562	blood:	n/a	chr5:61601906-61601919 chr5:61602009-61602022 chr5:61601903-61601916
17	MYC	chr5:61601240-61601297	K562	blood:	n/a	n/a
18	POLR2A	chr5:61601124-61603360	GM19099	blood:	n/a	n/a
19	POLR2A	chr5:61601070-61603073	K562	blood:	n/a	n/a
20	ATF2	chr5:61601195-61601869	H1-hESC	embryonic stem cell:	n/a	n/a
21	USF2	chr5:61601254-61601893	H1-hESC	embryonic stem cell:	n/a	chr5:61601867-61601883 chr5:61601877-61601893 chr5:61601695-61601706
22	POLR2A	chr5:61601016-61603236	K562	blood:	n/a	n/a
23	MXI1	chr5:61600891-61603632	SK-N-SH	brain:	n/a	chr5:61601697-61601706 chr5:61601697-61601706 chr5:61601695-61601704
24	POLR2A	chr5:61601114-61602208	PBDE	blood:	n/a	n/a
25	MAFK	chr5:61601222-61602112	Hela-S3	cervix:	n/a	chr5:61601226-61601243
26	TCF12	chr5:61601215-61603388	A549	lung:	n/a	chr5:61602129-61602139
27	REST	chr5:61601132-61603545	H1-neurons	neurons:	n/a	chr5:61601916-61601929 chr5:61603039-61603048 chr5:61602540-61602550
28	MAZ	chr5:61601263-61603306	K562	blood:	n/a	chr5:61601694-61601707 chr5:61601696-61601706 chr5:61601695-61601704 chr5:61601695-61601705 chr5:61602701-61602711 chr5:61601694-61601707 chr5:61601695-61601706 chr5:61601696-61601706 chr5:61601695-61601705 chr5:61601694-61601707 chr5:61601696-61601705 chr5:61601696-61601705 chr5:61601913-61601923 chr5:61601694-61601707 chr5:61601696-61601705 chr5:61601695-61601706 chr5:61601695-61601706
29	POLR2A	chr5:61601129-61602639	GM12878	blood:	n/a	n/a
30	POLR2A	chr5:61601194-61602501	K562	blood:	n/a	n/a
31	STAT1	chr5:61601091-61602435	K562	blood:	n/a	chr5:61601733-61601742 chr5:61601734-61601742 chr5:61601728-61601748 chr5:61601732-61601743 chr5:61601734-61601743 chr5:61601728-61601748 chr5:61601731-61601745 chr5:61601595-61601602
32	E2F4	chr5:61601160-61602476	K562	blood:	n/a	chr5:61601985-61601994 chr5:61601770-61601781 chr5:61601969-61601978
33	POLR2A	chr5:61601009-61603308	K562	blood:	n/a	n/a
34	STAT1	chr5:61601102-61602282	K562	blood:	n/a	chr5:61601733-61601742 chr5:61601734-61601742 chr5:61601728-61601748 chr5:61601732-61601743 chr5:61601734-61601743 chr5:61601728-61601748 chr5:61601731-61601745 chr5:61601595-61601602
35	MAX	chr5:61601196-61603345	GM12878	blood:	n/a	chr5:61601694-61601707 chr5:61601696-61601706 chr5:61601695-61601704 chr5:61601695-61601705 chr5:61602701-61602711 chr5:61601694-61601704 chr5:61601694-61601707 chr5:61601695-61601706 chr5:61601696-61601706 chr5:61601695-61601705 chr5:61601694-61601707 chr5:61601696-61601705 chr5:61601696-61601705 chr5:61601913-61601923 chr5:61601694-61601707 chr5:61601696-61601705 chr5:61601695-61601706 chr5:61601695-61601706
36	POLR2A	chr5:61601032-61603255	Raji	blood:	n/a	n/a
37	MAZ	chr5:61601149-61603480	IMR90	lung:	n/a	chr5:61601694-61601707 chr5:61601696-61601706 chr5:61601695-61601704 chr5:61601695-61601705 chr5:61602701-61602711 chr5:61601694-61601707 chr5:61601695-61601706 chr5:61601696-61601706 chr5:61601695-61601705 chr5:61601694-61601707 chr5:61601696-61601705 chr5:61601696-61601705 chr5:61601913-61601923 chr5:61601694-61601707 chr5:61601696-61601705 chr5:61601695-61601706 chr5:61601695-61601706
38	POLR2A	chr5:61601192-61601440	HepG2	liver:	n/a	n/a
39	E2F4	chr5:61601283-61602092	MCF10A-Er-Src	breast:	n/a	chr5:61601985-61601994 chr5:61601770-61601781 chr5:61601969-61601978
40	MAX	chr5:61601263-61602507	HUVEC	blood vessel:	n/a	chr5:61601694-61601707 chr5:61601696-61601706 chr5:61601695-61601704 chr5:61601695-61601705 chr5:61601694-61601704 chr5:61601694-61601707 chr5:61601695-61601706 chr5:61601696-61601706 chr5:61601695-61601705 chr5:61601694-61601707 chr5:61601696-61601705 chr5:61601696-61601705 chr5:61601913-61601923 chr5:61601694-61601707 chr5:61601696-61601705 chr5:61601695-61601706 chr5:61601695-61601706
41	NFATC1	chr5:61601118-61602229	GM12878	blood:	n/a	n/a
42	E2F6	chr5:61601182-61602199	A549	lung:	n/a	chr5:61601985-61601994 chr5:61601770-61601781 chr5:61601969-61601978
43	ELF1	chr5:61601257-61602157	HCT-116	colon:	n/a	chr5:61602117-61602129 chr5:61601735-61601744 chr5:61601736-61601745 chr5:61601732-61601745 chr5:61601953-61601962 chr5:61601867-61601879
44	MAX	chr5:61601117-61602659	MCF-7	breast:	n/a	chr5:61601694-61601707 chr5:61601696-61601706 chr5:61601695-61601704 chr5:61601695-61601705 chr5:61601694-61601704 chr5:61601694-61601707 chr5:61601695-61601706 chr5:61601696-61601706 chr5:61601695-61601705 chr5:61601694-61601707 chr5:61601696-61601705 chr5:61601696-61601705 chr5:61601913-61601923 chr5:61601694-61601707 chr5:61601696-61601705 chr5:61601695-61601706 chr5:61601695-61601706
45	POLR2A	chr5:61601041-61602495	K562	blood:	n/a	n/a
46	POLR2A	chr5:61601088-61603357	H1-hESC	embryonic stem cell:	n/a	n/a
47	WRNIP1	chr5:61601089-61602032	GM12878	blood:	n/a	n/a
48	MYC	chr5:61601077-61603440	K562	blood:	n/a	chr5:61601694-61601707 chr5:61601696-61601706 chr5:61601695-61601704 chr5:61601695-61601705 chr5:61602701-61602711 chr5:61601694-61601704 chr5:61601694-61601707 chr5:61601695-61601706 chr5:61601696-61601706 chr5:61601695-61601705 chr5:61601694-61601707 chr5:61601696-61601705 chr5:61601696-61601705 chr5:61601913-61601923 chr5:61601694-61601707 chr5:61601696-61601705 chr5:61601695-61601706 chr5:61601695-61601706
49	TCF7L2	chr5:61601222-61603078	Hela-S3	cervix:	n/a	n/a
50	MAX	chr5:61601279-61602228	K562	blood:	n/a	chr5:61601694-61601707 chr5:61601696-61601706 chr5:61601695-61601704 chr5:61601695-61601705 chr5:61601694-61601704 chr5:61601694-61601707 chr5:61601695-61601706 chr5:61601696-61601706 chr5:61601695-61601705 chr5:61601694-61601707 chr5:61601696-61601705 chr5:61601696-61601705 chr5:61601913-61601923 chr5:61601694-61601707 chr5:61601696-61601705 chr5:61601695-61601706 chr5:61601695-61601706

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:61593661..61595529-chr5:61600373..61601956,2	K562	blood:

Variant related genes	Relation type
KIF2A	TF binding region

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024090	chr5:61258759-61921150	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS 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	36 gene(s)	inside rSNPs	diseases
2	esv2757996	chr5:61403138-61687817	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	esv2759345	chr5:61403138-61748912	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv830318	chr5:61415713-61623320	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv1020255	chr5:61451792-62031365	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
6	nsv1027539	chr5:61457762-62000008	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
7	esv2755585	chr5:61535831-61618595	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
8	nsv881726	chr5:61556730-61676911	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
9	nsv881727	chr5:61578041-61700970	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	23 gene(s)	inside rSNPs	diseases
10	nsv10703	chr5:61596178-61601493	Enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
11	esv3355830	chr5:61601020-61603768	Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:61600800-61601800	Flanking Active TSS	Dnd41	blood
2	chr5:61601000-61601400	Enhancers	Primary hematopoietic stem cells	blood
3	chr5:61601000-61601400	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr5:61601000-61601400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr5:61601000-61601400	Enhancers	Fetal Muscle Leg	muscle
6	chr5:61601000-61601400	Enhancers	Placenta	Placenta
7	chr5:61601000-61601400	Enhancers	Fetal Thymus	thymus
8	chr5:61601000-61601400	Enhancers	HepG2	liver
9	chr5:61601000-61601600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
10	chr5:61601000-61601600	Flanking Active TSS	Primary T cells from cord blood	blood
11	chr5:61601000-61601600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
12	chr5:61601000-61601600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
13	chr5:61601000-61601800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr5:61601000-61601800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
15	chr5:61601000-61601800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
16	chr5:61601000-61601800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
17	chr5:61601000-61601800	Flanking Active TSS	K562	blood
18	chr5:61601200-61601400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr5:61601200-61601400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr5:61601200-61601400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr5:61601200-61601400	Flanking Bivalent TSS/Enh	H9 Cell Line	embryonic stem cell
22	chr5:61601200-61601400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr5:61601200-61601400	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
24	chr5:61601200-61601400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr5:61601200-61601400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr5:61601200-61601400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr5:61601200-61601400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr5:61601200-61601400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr5:61601200-61601400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
30	chr5:61601200-61601400	Enhancers	Colonic Mucosa	Colon
31	chr5:61601200-61601400	Enhancers	Esophagus	oesophagus
32	chr5:61601200-61601400	Enhancers	Fetal Heart	heart
33	chr5:61601200-61601400	Enhancers	Lung	lung
34	chr5:61601200-61601400	Flanking Active TSS	Pancreas	Pancrea
35	chr5:61601200-61601400	Enhancers	Placenta Amnion	Placenta Amnion
36	chr5:61601200-61601400	Enhancers	Right Atrium	heart
37	chr5:61601200-61601400	Enhancers	Right Ventricle	heart
38	chr5:61601200-61601400	Enhancers	Sigmoid Colon	Sigmoid Colon
39	chr5:61601200-61601400	Enhancers	Stomach Mucosa	stomach
40	chr5:61601200-61601400	Flanking Active TSS	Thymus	Thymus
41	chr5:61601200-61601400	Enhancers	HSMMtube	muscle
42	chr5:61601200-61601400	Enhancers	HUVEC	blood vessel
43	chr5:61601200-61601400	Active TSS	NH-A	brain
44	chr5:61601200-61601400	Enhancers	NHLF	lung
45	chr5:61601200-61601600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
46	chr5:61601200-61601600	Flanking Active TSS	H1 Cell Line	embryonic stem cell
47	chr5:61601200-61601600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr5:61601200-61601600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
49	chr5:61601200-61601600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
50	chr5:61601200-61601600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links