Variant report

Variant	rs570278480
Chromosome Location	chr2:173291865-173291866
allele	A/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	E2F6	chr2:173291814-173292464	A549	lung:	n/a	chr2:173292261-173292271 chr2:173292349-173292358
2	MAX	chr2:173291801-173293195	NB4	blood:	n/a	chr2:173291961-173291971 chr2:173291962-173291969 chr2:173291963-173291972
3	TCF12	chr2:173291846-173293252	ECC-1	luminal epithelium:	n/a	n/a
4	MAZ	chr2:173291769-173294408	IMR90	lung:	n/a	chr2:173294307-173294315 chr2:173291961-173291971 chr2:173291962-173291969 chr2:173291963-173291972
5	USF1	chr2:173291717-173292118	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr2:173291850-173293649	Hela-S3	cervix:	n/a	n/a
7	EP300	chr2:173291755-173292635	ECC-1	luminal epithelium:	n/a	chr2:173292326-173292342 chr2:173292100-173292116 chr2:173292342-173292358
8	MAX	chr2:173291785-173292624	K562	blood:	n/a	chr2:173291961-173291971 chr2:173291962-173291969 chr2:173291963-173291972
9	MAX	chr2:173291781-173293601	Hela-S3	cervix:	n/a	chr2:173291961-173291971 chr2:173291962-173291969 chr2:173291963-173291972
10	CREB1	chr2:173291720-173293971	HepG2	liver:	n/a	n/a
11	E2F6	chr2:173291703-173292475	H1-hESC	embryonic stem cell:	n/a	chr2:173292261-173292271 chr2:173292349-173292358
12	POLR2A	chr2:173291466-173293613	Raji	blood:	n/a	n/a
13	POLR2A	chr2:173291815-173292682	H1-neurons	neurons:	n/a	n/a
14	E2F6	chr2:173291606-173292807	H1-hESC	embryonic stem cell:	n/a	chr2:173292770-173292782 chr2:173292261-173292271 chr2:173292729-173292739 chr2:173292759-173292773 chr2:173292756-173292770 chr2:173292349-173292358
15	MAX	chr2:173291779-173293536	H1-hESC	embryonic stem cell:	n/a	chr2:173291961-173291971 chr2:173291962-173291969 chr2:173291963-173291972
16	JUND	chr2:173291809-173292064	HepG2	liver:	n/a	n/a
17	MAX	chr2:173291649-173293591	A549	lung:	n/a	chr2:173291961-173291971 chr2:173291962-173291969 chr2:173291963-173291972 chr2:173291677-173291688
18	SIN3A	chr2:173291860-173293986	H1-hESC	embryonic stem cell:	n/a	chr2:173292394-173292407
19	MYC	chr2:173291768-173293391	MCF10A-Er-Src	breast:	n/a	chr2:173291961-173291971 chr2:173291962-173291969 chr2:173291963-173291972
20	ATF2	chr2:173291667-173292184	H1-hESC	embryonic stem cell:	n/a	n/a
21	MYC	chr2:173291802-173292154	MCF10A-Er-Src	breast:	n/a	chr2:173291961-173291971 chr2:173291962-173291969 chr2:173291963-173291972
22	RAD21	chr2:173291862-173292602	H1-hESC	embryonic stem cell:	n/a	chr2:173292418-173292430
23	POLR2A	chr2:173291822-173294773	HepG2	liver:	n/a	n/a
24	MAX	chr2:173291821-173293205	A549	lung:	n/a	chr2:173291961-173291971 chr2:173291962-173291969 chr2:173291963-173291972
25	MAX	chr2:173291621-173293660	HCT-116	colon:	n/a	chr2:173291961-173291971 chr2:173291962-173291969 chr2:173291963-173291972 chr2:173291677-173291688
26	BRCA1	chr2:173291827-173292596	Hela-S3	cervix:	n/a	n/a
27	CTCF	chr2:173291720-173291870	AG04450	lung:	n/a	n/a
28	MAX	chr2:173291640-173293860	HepG2	liver:	n/a	chr2:173291961-173291971 chr2:173291962-173291969 chr2:173291963-173291972 chr2:173291677-173291688
29	RAD21	chr2:173291847-173292646	HCT-116	colon:	n/a	chr2:173292418-173292430
30	RCOR1	chr2:173291709-173293800	HepG2	liver:	n/a	n/a
31	MYC	chr2:173291838-173293129	NB4	blood:	n/a	chr2:173291961-173291971 chr2:173291962-173291969 chr2:173291963-173291972
32	HDAC2	chr2:173291781-173292785	MCF-7	breast:	n/a	n/a
33	MAX	chr2:173291728-173292766	MCF-7	breast:	n/a	chr2:173291961-173291971 chr2:173291962-173291969 chr2:173291963-173291972
34	MXI1	chr2:173291822-173293667	HepG2	liver:	n/a	n/a
35	TCF12	chr2:173291704-173292410	A549	lung:	n/a	n/a
36	BHLHE40	chr2:173291690-173293224	HepG2	liver:	n/a	chr2:173292390-173292406 chr2:173292470-173292486
37	CTCF	chr2:173291749-173293808	A549	lung:	n/a	chr2:173292343-173292356 chr2:173292474-173292487
38	SIN3AK20	chr2:173291665-173292693	HCT-116	colon:	n/a	n/a
39	RFX5	chr2:173291801-173292513	Hela-S3	cervix:	n/a	n/a
40	HDAC2	chr2:173291802-173292329	H1-hESC	embryonic stem cell:	n/a	n/a
41	MAX	chr2:173291687-173293603	H1-hESC	embryonic stem cell:	n/a	chr2:173291961-173291971 chr2:173291962-173291969 chr2:173291963-173291972
42	CTCF	chr2:173291840-173292110	AG10803	skin:	n/a	n/a
43	MAX	chr2:173291663-173293534	A549	lung:	n/a	chr2:173291961-173291971 chr2:173291962-173291969 chr2:173291963-173291972 chr2:173291677-173291688
44	USF2	chr2:173291831-173292031	HepG2	liver:	n/a	n/a
45	MAX	chr2:173291828-173293445	HepG2	liver:	n/a	chr2:173291961-173291971 chr2:173291962-173291969 chr2:173291963-173291972
46	MYBL2	chr2:173291668-173294278	HepG2	liver:	n/a	n/a
47	NFIC	chr2:173291841-173292246	HepG2	liver:	n/a	n/a
48	MAX	chr2:173291828-173293976	HepG2	liver:	n/a	chr2:173291961-173291971 chr2:173291962-173291969 chr2:173291963-173291972
49	MAX	chr2:173291811-173292553	SK-N-SH	brain:	n/a	chr2:173291961-173291971 chr2:173291962-173291969 chr2:173291963-173291972
50	ZNF143	chr2:173291817-173292486	H1-hESC	embryonic stem cell:	n/a	chr2:173292077-173292086 chr2:173292394-173292404

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:173290254..173291940-chr2:173293674..173296240,2	MCF-7	breast:

Variant related genes	Relation type
ITGA6	TF binding region

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533927	chr2:173161637-173796894	Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
2	nsv875414	chr2:173267081-173307756	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	esv1847874	chr2:173277361-173308318	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv583663	chr2:173287832-173307756	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv583664	chr2:173289239-173307756	Active TSS Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	esv3322868	chr2:173291131-173293679	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173290200-173292000	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
2	chr2:173291200-173292200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
3	chr2:173291400-173292000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
4	chr2:173291400-173292000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
5	chr2:173291400-173292000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
6	chr2:173291400-173292000	Bivalent Enhancer	Placenta	Placenta
7	chr2:173291400-173292000	Enhancers	Spleen	Spleen
8	chr2:173291400-173292200	Flanking Active TSS	Duodenum Mucosa	Duodenum
9	chr2:173291400-173292200	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
10	chr2:173291600-173292000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr2:173291600-173292000	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
12	chr2:173291600-173292000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
13	chr2:173291600-173292000	Flanking Bivalent TSS/Enh	HUES64 Cell Line	embryonic stem cell
14	chr2:173291600-173292000	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
15	chr2:173291600-173292000	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
16	chr2:173291600-173292000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr2:173291600-173292000	Flanking Bivalent TSS/Enh	Primary B cells from cord blood	blood
18	chr2:173291600-173292000	Flanking Active TSS	Primary T cells from cord blood	blood
19	chr2:173291600-173292000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
20	chr2:173291600-173292000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr2:173291600-173292000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
22	chr2:173291600-173292000	Flanking Bivalent TSS/Enh	Brain Angular Gyrus	brain
23	chr2:173291600-173292000	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
24	chr2:173291600-173292000	Flanking Active TSS	Thymus	Thymus
25	chr2:173291600-173292000	Flanking Active TSS	Hela-S3	cervix
26	chr2:173291600-173292200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
27	chr2:173291600-173292200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
28	chr2:173291600-173292200	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
29	chr2:173291600-173292200	Bivalent Enhancer	Fetal Brain Male	brain
30	chr2:173291600-173292200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
31	chr2:173291600-173292200	Flanking Active TSS	NHEK	skin
32	chr2:173291600-173292400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
33	chr2:173291600-173293200	Flanking Bivalent TSS/Enh	Dnd41	blood
34	chr2:173291600-173293600	Active TSS	A549	lung
35	chr2:173291600-173294000	Active TSS	HSMMtube	muscle
36	chr2:173291600-173294400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
37	chr2:173291600-173295200	Active TSS	Rectal Smooth Muscle	rectum
38	chr2:173291800-173292000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr2:173291800-173292000	Flanking Active TSS	H9 Cell Line	embryonic stem cell
40	chr2:173291800-173292000	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr2:173291800-173292000	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr2:173291800-173292000	Flanking Bivalent TSS/Enh	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr2:173291800-173292000	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr2:173291800-173292000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
45	chr2:173291800-173292000	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr2:173291800-173292000	Flanking Bivalent TSS/Enh	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr2:173291800-173292000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
48	chr2:173291800-173292000	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
49	chr2:173291800-173292000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
50	chr2:173291800-173292000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood

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