Variant report

Variant	rs6714060
Chromosome Location	chr2:74210442-74210443
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	PML	chr2:74210348-74212317	GM12878	blood:	n/a	n/a
2	MYBL2	chr2:74210438-74211583	HepG2	liver:	n/a	n/a
3	MYBL2	chr2:74210323-74210971	HepG2	liver:	n/a	n/a
4	MBD4	chr2:74209699-74210662	HepG2	liver:	n/a	n/a
5	POLR2A	chr2:74208051-74212199	MCF10A-Er-Src	breast:	n/a	n/a
6	RAD21	chr2:74210421-74211753	ECC-1	luminal epithelium:	n/a	chr2:74211604-74211618 chr2:74211730-74211743 chr2:74211603-74211622 chr2:74211558-74211572
7	MYC	chr2:74210151-74213343	A549	lung:	n/a	chr2:74211806-74211813 chr2:74212008-74212017 chr2:74211332-74211342 chr2:74211170-74211180 chr2:74213042-74213061 chr2:74212007-74212018 chr2:74212007-74212018
8	CTCF	chr2:74210440-74210590	NB4	blood:	n/a	n/a
9	MTA3	chr2:74210340-74212216	GM12878	blood:	n/a	n/a
10	SIN3AK20	chr2:74210342-74211805	MCF-7	breast:	n/a	n/a
11	SP1	chr2:74210291-74211482	HCT-116	colon:	n/a	chr2:74211157-74211171 chr2:74210647-74210661
12	POLR2A	chr2:74208993-74211773	HepG2	liver:	n/a	n/a
13	POLR2A	chr2:74207923-74212186	MCF10A-Er-Src	breast:	n/a	n/a
14	CTCF	chr2:74210440-74210710	Caco-2	colon:	n/a	n/a
15	BCLAF1	chr2:74210431-74210911	GM12878	blood:	n/a	n/a
16	SIN3AK20	chr2:74210423-74211551	MCF-7	breast:	n/a	n/a
17	GATA3	chr2:74210368-74211745	MCF-7	breast:	n/a	chr2:74211656-74211666
18	POLR2A	chr2:74207647-74211684	GM12891	blood:	n/a	n/a
19	MAX	chr2:74210376-74212312	HCT-116	colon:	n/a	chr2:74211806-74211813 chr2:74212008-74212017 chr2:74211332-74211342 chr2:74211170-74211180 chr2:74212007-74212018 chr2:74212007-74212018
20	POLR2A	chr2:74208074-74213500	HepG2	liver:	n/a	n/a
21	NFIC	chr2:74210428-74211695	ECC-1	luminal epithelium:	n/a	n/a
22	TCF12	chr2:74210375-74211694	MCF-7	breast:	n/a	chr2:74210980-74210990
23	TEAD4	chr2:74210356-74211298	HepG2	liver:	n/a	n/a
24	MXI1	chr2:74210317-74212381	SK-N-SH	brain:	n/a	n/a
25	POLR2A	chr2:74210369-74211733	SK-N-MC	brain:	n/a	n/a
26	POLR2A	chr2:74210422-74212397	H1-hESC	embryonic stem cell:	n/a	n/a
27	HEY1	chr2:74210440-74212435	HepG2	liver:	n/a	chr2:74211841-74211856 chr2:74211735-74211750 chr2:74212008-74212017 chr2:74211838-74211853 chr2:74211737-74211752
28	POLR2A	chr2:74210429-74212418	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:74209551..74211458-chr6:30582757..30584822,2	MCF-7	breast:
2	chr2:74194837..74202788-chr2:74203103..74212249,15	K562	blood:
3	chr2:74177818..74179521-chr2:74208626..74211088,2	MCF-7	breast:
4	chr2:74187365..74198553-chr2:74205167..74212961,17	MCF-7	breast:
5	chr2:74052797..74060455-chr2:74207744..74214705,21	MCF-7	breast:
6	chr2:74151695..74161558-chr2:74205273..74215127,19	K562	blood:
7	chr2:74209447..74211523-chr2:74377686..74379947,2	MCF-7	breast:
8	chr2:74210159..74214364-chr2:74424247..74427320,6	MCF-7	breast:
9	chr2:74209442..74213118-chr2:74372270..74377274,6	MCF-7	breast:
10	chr2:74006477..74008068-chr2:74209603..74212198,2	MCF-7	breast:
11	chr2:74151187..74158039-chr2:74203173..74216266,29	MCF-7	breast:
12	chr2:74209964..74211607-chr2:74281437..74283507,2	K562	blood:
13	chr2:74210080..74211906-chr2:74412687..74415534,2	MCF-7	breast:
14	chr2:74209535..74211828-chr2:97552282..97555129,2	MCF-7	breast:
15	chr2:74210101..74212862-chr2:74733390..74736109,2	K562	blood:
16	chr2:74171083..74173536-chr2:74209389..74211761,2	K562	blood:
17	chr13:25824565..25826154-chr2:74209246..74210998,2	MCF-7	breast:
18	chr2:74209118..74215634-chr2:74424964..74427991,9	MCF-7	breast:
19	chr2:74175475..74176994-chr2:74209729..74212006,2	MCF-7	breast:
20	chr2:74209066..74214459-chr2:74345671..74349502,5	K562	blood:
21	chr2:74147649..74157677-chr2:74203379..74217813,34	MCF-7	breast:
22	chr2:74209217..74211366-chr2:74294188..74296510,3	MCF-7	breast:
23	chr2:74055755..74057848-chr2:74210321..74213795,3	MCF-7	breast:
24	chr2:70312056..70313801-chr2:74209899..74211567,2	MCF-7	breast:
25	chr2:74209017..74213063-chr2:74345530..74349441,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000235499	TF binding region
DGUOK-AS1	TF binding region
ENSG00000255989	TF binding region
ENSG00000065911	Chromatin interaction
ENSG00000201876	Chromatin interaction
ENSG00000222894	Chromatin interaction
ENSG00000179818	Chromatin interaction
ENSG00000163170	Chromatin interaction
ENSG00000225439	Chromatin interaction
ENSG00000257800	Chromatin interaction
ENSG00000144048	Chromatin interaction
ENSG00000115289	Chromatin interaction
ENSG00000114956	Chromatin interaction
ENSG00000124356	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10197238	1.00[ASN][1000 genomes]
rs10207365	1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs10207954	1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs10208256	1.00[ASN][1000 genomes]
rs10496194	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12328448	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12713802	0.84[CEU][hapmap]
rs13391722	0.84[CEU][hapmap]
rs13404452	0.84[CEU][hapmap]
rs13416937	0.84[CEU][hapmap]
rs2272165	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs28421442	0.98[ASN][1000 genomes]
rs4241258	0.84[CEU][hapmap];0.92[TSI][hapmap];0.85[EUR][1000 genomes]
rs4852999	0.98[ASN][1000 genomes]
rs6546883	1.00[ASN][1000 genomes]
rs6705628	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs940296	0.80[TSI][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011177	chr2:74167343-74239905	Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	esv3584956	chr2:74197109-74317135	Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS Enhancers 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	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:74206800-74211400	Flanking Active TSS	NHEK	skin
2	chr2:74207200-74210600	Weak transcription	Dnd41	blood
3	chr2:74208600-74210600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:74208600-74210600	Enhancers	Primary T cells from cord blood	blood
5	chr2:74208600-74211000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr2:74208600-74211000	Enhancers	Primary T killer memory cells from peripheral blood	blood
7	chr2:74208600-74211000	Enhancers	Fetal Heart	heart
8	chr2:74208600-74211200	Enhancers	Placenta Amnion	Placenta Amnion
9	chr2:74208800-74210600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:74208800-74210600	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr2:74208800-74210800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr2:74208800-74210800	Enhancers	Primary neutrophils fromperipheralblood	blood
13	chr2:74208800-74210800	Enhancers	Primary hematopoietic stem cells	blood
14	chr2:74208800-74210800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr2:74208800-74210800	Enhancers	Primary T helper cells fromperipheralblood	blood
16	chr2:74208800-74210800	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr2:74208800-74210800	Bivalent Enhancer	Fetal Muscle Leg	muscle
18	chr2:74208800-74211000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
19	chr2:74208800-74211000	Weak transcription	Pancreatic Islets	Pancreatic Islet
20	chr2:74209000-74210600	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
21	chr2:74209000-74210600	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr2:74209000-74210600	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr2:74209000-74210600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr2:74209000-74210600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr2:74209000-74210600	Enhancers	Liver	Liver
26	chr2:74209000-74210600	Weak transcription	Brain Cingulate Gyrus	brain
27	chr2:74209000-74210600	Enhancers	Brain Hippocampus Middle	brain
28	chr2:74209000-74210600	Enhancers	Monocytes-CD14+_RO01746	blood
29	chr2:74209000-74210800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr2:74209000-74210800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr2:74209000-74210800	Weak transcription	Colon Smooth Muscle	Colon
32	chr2:74209000-74210800	Enhancers	Placenta	Placenta
33	chr2:74209000-74210800	Weak transcription	Spleen	Spleen
34	chr2:74209000-74211400	Weak transcription	Ovary	ovary
35	chr2:74209200-74210600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr2:74209200-74210600	Weak transcription	Brain Substantia Nigra	brain
37	chr2:74209200-74210600	Enhancers	Duodenum Mucosa	Duodenum
38	chr2:74209200-74210800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr2:74209200-74210800	Enhancers	A549	lung
40	chr2:74209200-74210800	Weak transcription	HUVEC	blood vessel
41	chr2:74209200-74210800	Enhancers	K562	blood
42	chr2:74209200-74211000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr2:74209200-74211000	Weak transcription	Brain Angular Gyrus	brain
44	chr2:74209200-74211200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr2:74209200-74211400	Weak transcription	Aorta	Aorta
46	chr2:74209400-74210800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr2:74209400-74210800	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr2:74209400-74211000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr2:74209600-74210600	Enhancers	Primary T helper naive cells from peripheral blood	blood
50	chr2:74209600-74210600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links