Variant report

Variant	rs2277318
Chromosome Location	chr12:57869447-57869448
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr12:57868611-57870538	H1-hESC	embryonic stem cell:	n/a	n/a
2	ZEB1	chr12:57869391-57870479	GM12878	blood:	n/a	n/a
3	CTBP2	chr12:57869110-57870427	H1-hESC	embryonic stem cell:	n/a	n/a
4	SUZ12	chr12:57868614-57870501	NT2-D1	testis:	n/a	n/a
5	MAX	chr12:57868891-57869481	H1-hESC	embryonic stem cell:	n/a	n/a
6	E2F6	chr12:57868512-57870170	H1-hESC	embryonic stem cell:	n/a	chr12:57870074-57870084
7	MXI1	chr12:57869052-57870336	SK-N-SH	brain:	n/a	n/a
8	SUZ12	chr12:57868353-57870425	H1-hESC	embryonic stem cell:	n/a	n/a
9	MXI1	chr12:57869296-57870273	IMR90	lung:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr12:57869421-57869471	SK-N-SH_RA	brain:	n/a
2	chr12:57869421-57869471	HNPCEpiC	eye:	n/a
3	chr12:57869421-57869471	Jurkat	blood:	n/a
4	chr12:57869421-57869471	MCF-7	breast:	n/a
5	chr12:57869421-57869471	ProgFib	skin:	n/a
6	chr12:57869421-57869471	LNCaP	prostate:	n/a
7	chr12:57869421-57869471	H1-hESC	embryonic stem cell:	embryo
8	chr12:57869421-57869471	IMR90	lung:	fetal
9	chr12:57869421-57869471	RPTEC	kidney:	n/a
10	chr12:57869421-57869471	SAEC	small airway:	n/a
11	chr12:57869421-57869471	CMK	blood:	n/a
12	chr12:57869421-57869471	GM12891	blood:	n/a
13	chr12:57869421-57869471	BJ	skin:	n/a
14	chr12:57869421-57869471	MCF10A-Er-Src	breast:	n/a
15	chr12:57869421-57869471	HCF	heart:	n/a
16	chr12:57869421-57869471	AG04450	lung:	fetal
17	chr12:57869421-57869471	HIPEpiC	eye:	n/a
18	chr12:57869421-57869471	SKMC	muscle:	n/a
19	chr12:57869421-57869471	HCT-116	colon:	n/a
20	chr12:57869421-57869471	GM12878	blood:	n/a
21	chr12:57869421-57869471	NB4	blood:	n/a
22	chr12:57869421-57869471	Hepatocyte	liver:	n/a
23	chr12:57869421-57869471	PANC-1	pancreas:	n/a
24	chr12:57869421-57869471	ECC-1	luminal epithelium:	n/a
25	chr12:57869421-57869471	AG10803	skin:	n/a
26	chr12:57869421-57869471	GM06990	blood:	n/a
27	chr12:57869421-57869471	BE2_C	brain:	n/a
28	chr12:57869421-57869471	AoSMC	blood vessel:	n/a
29	chr12:57869421-57869471	HMEC	breast:	n/a
30	chr12:57869421-57869471	NT2-D1	testis:	n/a
31	chr12:57869421-57869471	PrEC	prostate:	n/a
32	chr12:57869421-57869471	NH-A	brain:	n/a
33	chr12:57869421-57869471	AG09319	gingival:	n/a
34	chr12:57869421-57869471	K562	blood:	n/a
35	chr12:57869421-57869471	HL-60	blood:	n/a
36	chr12:57869421-57869471	HRCEpiC	kidney:	n/a
37	chr12:57869421-57869471	HCM	heart:	n/a
38	chr12:57869421-57869471	ovcar-3	ovarian:	n/a
39	chr12:57869421-57869471	HepG2	liver:	n/a
40	chr12:57869421-57869471	HRE	kidney:	n/a
41	chr12:57869421-57869471	HPAEpiC	pulmonary alveolar:	n/a
42	chr12:57869421-57869471	A549	lung:	n/a
43	chr12:57869421-57869471	PFSK-1	brain:	n/a
44	chr12:57869421-57869471	NHBE	bronchial:	n/a
45	chr12:57869421-57869471	HUVEC	blood vessel:	n/a
46	chr12:57869421-57869471	HRPEpiC	eye:	n/a
47	chr12:57869421-57869471	HEEpiC	esophagus:	n/a
48	chr12:57869421-57869471	GM19239	blood:	n/a
49	chr12:57869421-57869471	U87	brain:	n/a
50	chr12:57869421-57869471	SK-N-SH	brain:	n/a

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:57866650..57869717-chr12:57880833..57883787,3	MCF-7	breast:
2	chr12:57856465..57858334-chr12:57867233..57870220,2	MCF-7	breast:

No data

Variant related genes	Relation type
ARHGAP9	TF binding region
ARHGAP9	CpG island
ENSG00000111087	Chromatin interaction
ENSG00000166986	Chromatin interaction
ENSG00000123329	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10783826	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10783827	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs10783828	0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10876987	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2228224	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2228225	0.80[EUR][1000 genomes]
rs2228226	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2277315	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2277316	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2277317	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2292657	0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3817474	0.80[EUR][1000 genomes]
rs4760259	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7309467	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046013	chr12:57714676-57895167	Active TSS Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
2	nsv541502	chr12:57714676-57895167	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	56 gene(s)	inside rSNPs	diseases
3	nsv899117	chr12:57811414-57926472	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
4	nsv899118	chr12:57811414-57946477	Weak transcription Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	106 gene(s)	inside rSNPs	diseases
5	esv1812398	chr12:57829733-58001868	Flanking Active TSS Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
6	esv2758310	chr12:57829733-58001868	Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
7	esv2759901	chr12:57829733-58001868	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
8	nsv428283	chr12:57829733-58001868	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
9	nsv469411	chr12:57844049-57921188	Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
10	nsv559032	chr12:57844049-57921188	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
11	nsv559033	chr12:57848639-57946477	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent/Poised TSS Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
12	nsv899119	chr12:57851182-57923451	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
13	nsv559034	chr12:57859932-58012233	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
14	nsv559035	chr12:57860972-57870648	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
15	nsv819597	chr12:57868561-57870210	Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:57859600-57870800	Weak transcription	A549	lung
2	chr12:57861800-57869600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr12:57862800-57870400	Transcr. at gene 5' and 3'	Primary neutrophils fromperipheralblood	blood
4	chr12:57864800-57869600	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
5	chr12:57865600-57869600	Genic enhancers	Primary B cells from peripheral blood	blood
6	chr12:57866000-57869600	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr12:57866200-57869600	Genic enhancers	Primary T cells from cord blood	blood
8	chr12:57868200-57869600	Genic enhancers	Thymus	Thymus
9	chr12:57868400-57869600	Genic enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr12:57868600-57869600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr12:57868600-57870600	Bivalent Enhancer	Fetal Heart	heart
12	chr12:57868800-57869600	Bivalent Enhancer	Esophagus	oesophagus
13	chr12:57868800-57869800	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
14	chr12:57868800-57869800	Enhancers	Lung	lung
15	chr12:57868800-57870200	Bivalent Enhancer	Fetal Brain Male	brain
16	chr12:57868800-57870200	Bivalent/Poised TSS	Fetal Brain Female	brain
17	chr12:57868800-57870400	Bivalent Enhancer	Fetal Lung	lung
18	chr12:57868800-57870800	Weak transcription	K562	blood
19	chr12:57869000-57869600	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr12:57869000-57869600	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
21	chr12:57869000-57869600	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
22	chr12:57869000-57869600	Transcr. at gene 5' and 3'	Monocytes-CD14+_RO01746	blood
23	chr12:57869000-57869800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
24	chr12:57869000-57869800	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
25	chr12:57869000-57870000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
26	chr12:57869000-57870000	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr12:57869000-57870000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr12:57869000-57870000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
29	chr12:57869000-57870000	Bivalent Enhancer	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr12:57869000-57870000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
31	chr12:57869000-57870200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
32	chr12:57869000-57870200	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
33	chr12:57869000-57870200	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
34	chr12:57869000-57870200	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr12:57869000-57870200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr12:57869000-57870200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr12:57869000-57870200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr12:57869000-57870400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
39	chr12:57869000-57870400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
40	chr12:57869000-57870400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
41	chr12:57869000-57870400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr12:57869000-57870400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr12:57869000-57870400	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
44	chr12:57869000-57870400	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
45	chr12:57869000-57870400	Flanking Active TSS	Right Ventricle	heart
46	chr12:57869000-57870400	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
47	chr12:57869000-57870600	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
48	chr12:57869000-57870600	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
49	chr12:57869200-57869600	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr12:57869200-57869600	Enhancers	Liver	Liver

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