Variant report

Variant	rs11068855
Chromosome Location	chr12:118603031-118603032
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	CTCF	chr12:118602877-118603118	T-47D	breast:	n/a	chr12:118603007-118603025 chr12:118603009-118603030
2	CTCF	chr12:118602822-118603228	GM12878	blood:	n/a	chr12:118603007-118603025 chr12:118603009-118603030
3	CTCF	chr12:118602907-118603147	LNCaP	prostate:	n/a	chr12:118603007-118603025 chr12:118603009-118603030
4	CTCF	chr12:118602961-118603125	GM19239	blood:	n/a	chr12:118603007-118603025 chr12:118603009-118603030
5	CTCF	chr12:118602960-118603110	HPF	lung:	n/a	chr12:118603007-118603025 chr12:118603009-118603030
6	CTCF	chr12:118602921-118603123	GM13977	blood:	n/a	chr12:118603007-118603025 chr12:118603009-118603030
7	CTCF	chr12:118602940-118603090	NB4	blood:	n/a	chr12:118603007-118603025 chr12:118603009-118603030
8	CTCF	chr12:118602980-118603130	HCM	heart:	n/a	chr12:118603007-118603025 chr12:118603009-118603030
9	CTCF	chr12:118602960-118603110	GM12870	blood:	n/a	chr12:118603007-118603025 chr12:118603009-118603030
10	CTCF	chr12:118602960-118603110	SAEC	small airway:	n/a	chr12:118603007-118603025 chr12:118603009-118603030
11	GATA2	chr12:118602854-118603102	SH-SY5Y	brain:	n/a	n/a
12	CTCF	chr12:118602960-118603110	WERI-Rb-1	eye:	n/a	chr12:118603007-118603025 chr12:118603009-118603030
13	CTCF	chr12:118602900-118603163	ECC-1	luminal epithelium:	n/a	chr12:118603007-118603025 chr12:118603009-118603030
14	CTCF	chr12:118603000-118603150	GM12871	blood:	n/a	chr12:118603007-118603025 chr12:118603009-118603030
15	ARID3A	chr12:118603025-118603194	HepG2	liver:	n/a	n/a
16	RAD21	chr12:118602851-118603221	HepG2	liver:	n/a	chr12:118603008-118603027
17	CTCF	chr12:118602917-118603117	Hela-S3	cervix:	n/a	chr12:118603007-118603025 chr12:118603009-118603030
18	CTCF	chr12:118602960-118603110	SK-N-SH_RA	brain:	n/a	chr12:118603007-118603025 chr12:118603009-118603030
19	CTCF	chr12:118602940-118603090	AG04450	lung:	n/a	chr12:118603007-118603025 chr12:118603009-118603030
20	RAD21	chr12:118602834-118603235	H1-hESC	embryonic stem cell:	n/a	chr12:118603008-118603027
21	CTCF	chr12:118602960-118603110	AoAF	blood vessel:	n/a	chr12:118603007-118603025 chr12:118603009-118603030
22	CTCF	chr12:118602913-118603171	Lung_OC	lung:	n/a	chr12:118603007-118603025 chr12:118603009-118603030
23	CTCF	chr12:118602920-118603070	GM12874	blood:	n/a	chr12:118603007-118603025 chr12:118603009-118603030
24	CTCF	chr12:118602935-118603099	GM13976	blood:	n/a	chr12:118603007-118603025 chr12:118603009-118603030
25	CTCF	chr12:118602960-118603110	HL-60	blood:	n/a	chr12:118603007-118603025 chr12:118603009-118603030
26	JUND	chr12:118602879-118603370	H1-hESC	embryonic stem cell:	n/a	n/a
27	RAD21	chr12:118602781-118603335	HCT-116	colon:	n/a	chr12:118603008-118603027
28	CTCF	chr12:118602962-118603083	GM20000	blood:	n/a	chr12:118603007-118603025 chr12:118603009-118603030
29	CTCF	chr12:118602847-118603198	K562	blood:	n/a	chr12:118603007-118603025 chr12:118603009-118603030
30	CTCF	chr12:118602941-118603139	GM19238	blood:	n/a	chr12:118603007-118603025 chr12:118603009-118603030
31	POLR2A	chr12:118601679-118605628	K562	blood:	n/a	n/a
32	CTCF	chr12:118602920-118603070	Hela-S3	cervix:	n/a	chr12:118603007-118603025 chr12:118603009-118603030
33	SMC3	chr12:118602951-118603133	K562	blood:	n/a	n/a
34	CTCF	chr12:118602980-118603130	GM12866	blood:	n/a	chr12:118603007-118603025 chr12:118603009-118603030
35	CTCF	chr12:118602940-118603090	Hela-S3	cervix:	n/a	chr12:118603007-118603025 chr12:118603009-118603030
36	CTCF	chr12:118602915-118603134	A549	lung:	n/a	chr12:118603007-118603025 chr12:118603009-118603030
37	CTCF	chr12:118602920-118603070	NHDF-neo	bronchial:	n/a	chr12:118603007-118603025 chr12:118603009-118603030
38	CTCF	chr12:118602902-118603151	GM12878	blood:	n/a	chr12:118603007-118603025 chr12:118603009-118603030
39	CTCF	chr12:118602980-118603130	GM12865	blood:	n/a	chr12:118603007-118603025 chr12:118603009-118603030
40	CTCF	chr12:118602960-118603110	HPAF	blood vessel:	n/a	chr12:118603007-118603025 chr12:118603009-118603030
41	CTCF	chr12:118602940-118603090	GM12872	blood:	n/a	chr12:118603007-118603025 chr12:118603009-118603030
42	CTCF	chr12:118602939-118603153	ProgFib	skin:	n/a	chr12:118603007-118603025 chr12:118603009-118603030
43	RAD21	chr12:118602765-118603248	HepG2	liver:	n/a	chr12:118603008-118603027
44	CTCF	chr12:118602954-118603113	HepG2	liver:	n/a	chr12:118603007-118603025 chr12:118603009-118603030
45	CTCF	chr12:118602940-118603090	AG09309	skin:	n/a	chr12:118603007-118603025 chr12:118603009-118603030
46	CTCF	chr12:118602807-118603252	H1-hESC	embryonic stem cell:	n/a	chr12:118603007-118603025 chr12:118603009-118603030
47	CTCF	chr12:118602960-118603110	AG09319	gingival:	n/a	chr12:118603007-118603025 chr12:118603009-118603030
48	CTCF	chr12:118602960-118603110	GM12872	blood:	n/a	chr12:118603007-118603025 chr12:118603009-118603030
49	CTCF	chr12:118602920-118603070	HA-sp	spinal cord:	n/a	chr12:118603007-118603025 chr12:118603009-118603030
50	CTCF	chr12:118602960-118603110	HepG2	liver:	n/a	chr12:118603007-118603025 chr12:118603009-118603030

No.	Distal block	Cell Line	Cell type
1	chr12:118596811..118599066-chr12:118602668..118604454,2	MCF-7	breast:
2	chr12:118602518..118604035-chr12:118606751..118609682,2	MCF-7	breast:
3	chr12:118602460..118604625-chr12:118813262..118815515,3	MCF-7	breast:
4	chr12:118602871..118603455-chr12:118813619..118814469,3	MCF-7	breast:
5	chr12:118601731..118605413-chr12:118811549..118815749,6	MCF-7	breast:
6	chr12:118491454..118494389-chr12:118600464..118603193,2	K562	blood:
7	chr12:118602929..118605254-chr12:118810718..118812251,2	K562	blood:
8	chr12:118602638..118603497-chr12:118815737..118816345,4	MCF-7	breast:
9	chr12:118558430..118559056-chr12:118602563..118603381,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000221280	TF binding region
TAOK3	TF binding region
ENSG00000176834	Chromatin interaction
ENSG00000111707	Chromatin interaction
ENSG00000270482	Chromatin interaction
ENSG00000135090	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs11068847	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11068853	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11068854	1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11068856	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11068860	1.00[CHB][hapmap];0.94[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs11068864	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[ASN][1000 genomes]
rs11068865	1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.86[ASN][1000 genomes]
rs11068871	0.83[ASN][1000 genomes]
rs11068880	0.94[CHB][hapmap];0.93[JPT][hapmap]
rs11068891	0.88[CHB][hapmap];0.88[CHD][hapmap];0.81[JPT][hapmap]
rs11068893	0.94[CHB][hapmap];0.93[JPT][hapmap];0.83[YRI][hapmap]
rs11068898	0.82[ASW][hapmap];0.94[CHB][hapmap];0.82[CHD][hapmap];0.96[GIH][hapmap];0.93[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs11068900	0.94[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap]
rs11068901	0.94[CHB][hapmap];0.82[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];1.00[TSI][hapmap]
rs11068904	0.88[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap]
rs11068908	0.88[CHB][hapmap];0.80[JPT][hapmap]
rs11068909	0.94[CHB][hapmap];0.81[CHD][hapmap];0.88[GIH][hapmap];0.92[JPT][hapmap];1.00[TSI][hapmap]
rs11068915	0.94[CHB][hapmap]
rs11068916	0.94[CHB][hapmap];0.85[JPT][hapmap]
rs11068917	0.88[CHB][hapmap]
rs11068919	0.83[CHB][hapmap]
rs11068923	0.88[CHB][hapmap];0.92[GIH][hapmap];1.00[TSI][hapmap]
rs12227411	0.88[CHB][hapmap];0.96[GIH][hapmap];0.92[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs12227974	0.82[ASW][hapmap];0.94[CHB][hapmap];0.82[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs12228425	0.82[ASW][hapmap];0.94[CHB][hapmap];0.82[CHD][hapmap];0.96[GIH][hapmap];0.93[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs16948250	0.83[CHB][hapmap]
rs17586342	0.94[CHB][hapmap];1.00[CHD][hapmap];0.86[JPT][hapmap];0.93[ASN][1000 genomes]
rs17586582	0.94[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap]
rs17619569	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17619702	1.00[CHB][hapmap];0.92[JPT][hapmap]
rs17619805	0.94[CHB][hapmap];0.93[JPT][hapmap];1.00[YRI][hapmap]
rs17619932	0.88[CHB][hapmap]
rs2280711	0.94[CHB][hapmap];1.00[CHD][hapmap];0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs7136216	0.94[CHB][hapmap];1.00[CHD][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs73222056	0.81[ASN][1000 genomes]
rs7974718	0.88[CHB][hapmap];0.80[JPT][hapmap]
rs9888447	0.82[ASW][hapmap];0.94[CHB][hapmap];0.96[GIH][hapmap];0.93[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053785	chr12:118490955-118874194	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv1054703	chr12:118575000-118638613	Active TSS Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv541611	chr12:118575000-118638613	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers 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 lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv1035497	chr12:118599539-118732144	Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv541612	chr12:118599539-118732144	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118576000-118619600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
2	chr12:118576000-118624000	Weak transcription	Stomach Mucosa	stomach
3	chr12:118578200-118611600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:118578600-118603200	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr12:118584000-118627600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr12:118585800-118619000	Weak transcription	HepG2	liver
7	chr12:118586200-118619400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr12:118586600-118613600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr12:118586800-118603600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr12:118587600-118611200	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr12:118587600-118619200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr12:118587800-118620000	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr12:118589600-118619000	Weak transcription	A549	lung
14	chr12:118590400-118617000	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr12:118592600-118619400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr12:118593200-118619200	Strong transcription	Fetal Brain Female	brain
17	chr12:118593200-118619400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr12:118593200-118619600	Strong transcription	Primary T cells fromperipheralblood	blood
19	chr12:118598200-118620000	Weak transcription	Hela-S3	cervix
20	chr12:118599000-118607800	Weak transcription	Fetal Brain Male	brain
21	chr12:118599200-118608000	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr12:118599400-118607200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr12:118599600-118604800	Weak transcription	NH-A	brain
24	chr12:118599600-118605600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr12:118599800-118607400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr12:118599800-118607600	Weak transcription	Small Intestine	intestine
27	chr12:118599800-118608000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr12:118599800-118608200	Weak transcription	Colonic Mucosa	Colon
29	chr12:118599800-118608200	Weak transcription	HMEC	breast
30	chr12:118599800-118608400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr12:118599800-118608400	Weak transcription	Colon Smooth Muscle	Colon
32	chr12:118599800-118609800	Weak transcription	Psoas Muscle	Psoas
33	chr12:118599800-118609800	Weak transcription	HUVEC	blood vessel
34	chr12:118599800-118613000	Weak transcription	HSMMtube	muscle
35	chr12:118599800-118625600	Weak transcription	Pancreas	Pancrea
36	chr12:118600000-118603200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr12:118600000-118604800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr12:118600000-118605400	Weak transcription	Fetal Muscle Leg	muscle
39	chr12:118600000-118605800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr12:118600000-118605800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr12:118600000-118607200	Weak transcription	Esophagus	oesophagus
42	chr12:118600000-118607200	Weak transcription	Fetal Intestine Small	intestine
43	chr12:118600000-118607400	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr12:118600000-118607800	Weak transcription	Spleen	Spleen
45	chr12:118600000-118608000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr12:118600000-118608000	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr12:118600000-118608800	Weak transcription	Gastric	stomach
48	chr12:118600000-118609400	Weak transcription	Right Ventricle	heart
49	chr12:118600000-118609600	Weak transcription	Fetal Heart	heart
50	chr12:118600000-118610000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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