Variant report

Variant	rs528599262
Chromosome Location	chr2:172016000-172016001
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	TAF1	chr2:172015986-172016620	H1-neurons	neurons:	n/a	n/a
2	CTCF	chr2:172015880-172016030	GM12869	blood:	n/a	chr2:172015949-172015967 chr2:172015944-172015965 chr2:172015950-172015966
3	MXI1	chr2:172015647-172016263	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTCF	chr2:172015869-172016095	LNCaP	prostate:	n/a	chr2:172015949-172015967 chr2:172015944-172015965 chr2:172015950-172015966
5	TCF12	chr2:172015626-172017580	A549	lung:	n/a	chr2:172017439-172017448
6	CTCF	chr2:172015900-172016050	HVMF	connective:	n/a	chr2:172015949-172015967 chr2:172015944-172015965 chr2:172015950-172015966
7	PML	chr2:172015589-172016620	K562	blood:	n/a	n/a
8	RUNX3	chr2:172015624-172016580	GM12878	blood:	n/a	chr2:172016053-172016070
9	CTCF	chr2:172015880-172016030	GM06990	blood:	n/a	chr2:172015949-172015967 chr2:172015944-172015965 chr2:172015950-172015966
10	CTCF	chr2:172015848-172016081	GM10266	blood:	n/a	chr2:172015949-172015967 chr2:172015944-172015965 chr2:172015950-172015966
11	POLR2A	chr2:172015653-172016690	GM12891	blood:	n/a	n/a
12	RAD21	chr2:172015756-172016132	A549	lung:	n/a	chr2:172015947-172015966
13	POLR2A	chr2:172015773-172018047	GM18526	blood:	n/a	n/a
14	CTCF	chr2:172015920-172016070	GM12872	blood:	n/a	chr2:172015949-172015967 chr2:172015944-172015965 chr2:172015950-172015966
15	CTCF	chr2:172015880-172016030	K562	blood:	n/a	chr2:172015949-172015967 chr2:172015944-172015965 chr2:172015950-172015966
16	CTCF	chr2:172015880-172016030	HepG2	liver:	n/a	chr2:172015949-172015967 chr2:172015944-172015965 chr2:172015950-172015966
17	RAD21	chr2:172015700-172016223	ECC-1	luminal epithelium:	n/a	chr2:172015947-172015966
18	HDAC2	chr2:172015696-172016469	HepG2	liver:	n/a	n/a
19	POLR2A	chr2:172015911-172017997	GM12878	blood:	n/a	n/a
20	YY1	chr2:172015882-172018018	GM12892	blood:	n/a	chr2:172017415-172017426 chr2:172017541-172017552 chr2:172017417-172017426 chr2:172016885-172016905 chr2:172017414-172017423
21	NFATC1	chr2:172015709-172016408	GM12878	blood:	n/a	n/a
22	POLR2A	chr2:172015367-172018060	GM12878	blood:	n/a	n/a
23	RELA	chr2:172015541-172016587	GM18951	blood:	n/a	n/a
24	MTA3	chr2:172015310-172017405	GM12878	blood:	n/a	n/a
25	STAT5A	chr2:172015572-172016564	GM12878	blood:	n/a	chr2:172016368-172016380
26	SMC3	chr2:172015651-172016113	K562	blood:	n/a	chr2:172015958-172015965 chr2:172015951-172015965
27	POLR2A	chr2:172015880-172016702	GM12892	blood:	n/a	n/a
28	CTCF	chr2:172015856-172016077	Kidney_OC	kidney:	n/a	chr2:172015949-172015967 chr2:172015944-172015965 chr2:172015950-172015966
29	MAX	chr2:172015708-172016733	SK-N-SH	brain:	n/a	n/a
30	CTCF	chr2:172015920-172016070	SK-N-SH_RA	brain:	n/a	chr2:172015949-172015967 chr2:172015944-172015965 chr2:172015950-172015966
31	CTCF	chr2:172015940-172016090	GM12868	blood:	n/a	chr2:172015949-172015967 chr2:172015944-172015965 chr2:172015950-172015966
32	POLR2A	chr2:172015995-172017988	GM12878	blood:	n/a	n/a
33	RCOR1	chr2:172015406-172016381	K562	blood:	n/a	n/a
34	CTCF	chr2:172015903-172016037	MCF-7	breast:	n/a	chr2:172015949-172015967 chr2:172015944-172015965 chr2:172015950-172015966
35	CTCF	chr2:172015722-172016124	HepG2	liver:	n/a	chr2:172015949-172015967 chr2:172015944-172015965 chr2:172015950-172015966
36	POLR2A	chr2:172015914-172016586	SK-N-MC	brain:	n/a	n/a
37	CTCF	chr2:172015880-172016030	HCFaa	heart:	n/a	chr2:172015949-172015967 chr2:172015944-172015965 chr2:172015950-172015966
38	CTCF	chr2:172015860-172016010	BJ	skin:	n/a	chr2:172015949-172015967 chr2:172015944-172015965 chr2:172015950-172015966
39	CEBPD	chr2:172015903-172016742	HepG2	liver:	n/a	n/a
40	BHLHE40	chr2:172015795-172016591	K562	blood:	n/a	n/a
41	FOXM1	chr2:172015744-172016509	GM12878	blood:	n/a	n/a
42	CTCF	chr2:172015940-172016090	HEK293	kidney:	n/a	chr2:172015949-172015967 chr2:172015944-172015965 chr2:172015950-172015966
43	CTCF	chr2:172015880-172016030	SK-N-SH_RA	brain:	n/a	chr2:172015949-172015967 chr2:172015944-172015965 chr2:172015950-172015966
44	MYC	chr2:172015677-172016105	MCF10A-Er-Src	breast:	n/a	n/a
45	POU2F2	chr2:172015756-172016597	GM12878	blood:	n/a	chr2:172016556-172016568
46	CTCF	chr2:172015900-172016050	GM12871	blood:	n/a	chr2:172015949-172015967 chr2:172015944-172015965 chr2:172015950-172015966
47	SMC3	chr2:172015703-172016473	HepG2	liver:	n/a	chr2:172015958-172015965 chr2:172015951-172015965
48	TBP	chr2:172015372-172018559	K562	blood:	n/a	n/a
49	POLR2A	chr2:172015923-172016676	GM12891	blood:	n/a	n/a
50	MAX	chr2:172015338-172017984	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:172013226..172020125-chr2:172287594..172292844,18	MCF-7	breast:
2	chr2:171921242..171923665-chr2:172015920..172017690,2	MCF-7	breast:
3	chr2:172015340..172019166-chr2:172288878..172291883,5	K562	blood:
4	chr2:171785349..171787069-chr2:172015224..172018585,4	MCF-7	breast:
5	chr1:149819814..149821730-chr2:172014247..172017009,2	K562	blood:
6	chr2:172014091..172018646-chr2:172288530..172293107,15	MCF-7	breast:
7	chr2:172013756..172019540-chr2:172285624..172293532,16	K562	blood:
8	chr2:171784510..171786977-chr2:172014779..172017241,3	K562	blood:
9	chr2:171810266..171813832-chr2:172014832..172018055,4	K562	blood:
10	chr2:172002500..172008778-chr2:172012564..172018500,9	MCF-7	breast:

Variant related genes	Relation type
TLK1	TF binding region
ENSG00000115827	Chromatin interaction
ENSG00000261716	Chromatin interaction
ENSG00000238567	Chromatin interaction
ENSG00000123600	Chromatin interaction
ENSG00000198586	Chromatin interaction
ENSG00000115806	Chromatin interaction

Extended variants
information (count: 1 )
Associated
traits (count: 0)

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3420180	chr2:172015931-172018479	Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:138 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:171990000-172016000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:172013800-172018200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr2:172013800-172018200	Active TSS	GM12878-XiMat	blood
4	chr2:172014000-172018200	Active TSS	K562	blood
5	chr2:172014000-172018800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr2:172014200-172018600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr2:172014400-172016200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr2:172014400-172018200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
9	chr2:172014400-172018200	Active TSS	HSMMtube	muscle
10	chr2:172014600-172016000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
11	chr2:172014600-172016000	Flanking Active TSS	HUVEC	blood vessel
12	chr2:172014600-172016400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr2:172014600-172018400	Active TSS	Stomach Smooth Muscle	stomach
14	chr2:172014600-172018600	Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr2:172014600-172018600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr2:172014600-172018600	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr2:172014600-172018600	Active TSS	HMEC	breast
18	chr2:172014800-172016000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr2:172014800-172016000	Active TSS	Brain Germinal Matrix	brain
20	chr2:172014800-172016400	Flanking Active TSS	Primary B cells from cord blood	blood
21	chr2:172014800-172016400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr2:172014800-172018000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr2:172014800-172018200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr2:172014800-172018400	Active TSS	H1 Cell Line	embryonic stem cell
25	chr2:172014800-172018400	Active TSS	HUES6 Cell Line	embryonic stem cell
26	chr2:172014800-172018400	Active TSS	HSMM	muscle
27	chr2:172015000-172016000	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
28	chr2:172015000-172016000	Active TSS	Primary T regulatory cells fromperipheralblood	blood
29	chr2:172015000-172016200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr2:172015000-172016400	Flanking Active TSS	Primary hematopoietic stem cells	blood
31	chr2:172015000-172018000	Active TSS	Brain Anterior Caudate	brain
32	chr2:172015000-172018000	Active TSS	Osteobl	bone
33	chr2:172015000-172018200	Active TSS	HUES48 Cell Line	embryonic stem cell
34	chr2:172015000-172018200	Active TSS	iPS-20b Cell Line	embryonic stem cell
35	chr2:172015000-172018200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr2:172015000-172018200	Active TSS	Brain Inferior Temporal Lobe	brain
37	chr2:172015000-172018200	Active TSS	Fetal Kidney	kidney
38	chr2:172015000-172018200	Active TSS	Hela-S3	cervix
39	chr2:172015000-172018400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr2:172015000-172018400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr2:172015000-172018400	Active TSS	Brain Cingulate Gyrus	brain
42	chr2:172015000-172018400	Active TSS	Colon Smooth Muscle	Colon
43	chr2:172015000-172018400	Active TSS	Fetal Brain Male	brain
44	chr2:172015000-172018400	Active TSS	NHLF	lung
45	chr2:172015200-172016400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
46	chr2:172015200-172017800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr2:172015200-172018000	Active TSS	Primary T helper cells PMA-I stimulated	--
48	chr2:172015200-172018000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
49	chr2:172015200-172018200	Active TSS	iPS-15b Cell Line	embryonic stem cell
50	chr2:172015200-172018200	Active TSS	iPS-18 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links