Variant report

Variant	rs11068864
Chromosome Location	chr12:118622248-118622249
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

No data

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

No.	Distal block	Cell Line	Cell type
1	chr12:118620648..118622407-chr12:118625591..118629279,3	K562	blood:
2	chr12:118617221..118623793-chr12:118809136..118815784,15	MCF-7	breast:
3	chr12:118498765..118502129-chr12:118621622..118623840,3	K562	blood:
4	chr12:118618995..118624149-chr12:118809534..118814465,7	K562	blood:
5	chr12:118621969..118623952-chr12:118810607..118813108,2	MCF-7	breast:
6	chr12:118616609..118618559-chr12:118621695..118624437,2	K562	blood:
7	chr12:118621252..118623142-chr12:118808957..118811612,2	K562	blood:
8	chr12:118621945..118622509-chr12:118813550..118814054,2	K562	blood:
9	chr12:118620907..118623414-chr12:118626921..118629279,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000270482	Chromatin interaction
ENSG00000176871	Chromatin interaction
ENSG00000111707	Chromatin interaction
ENSG00000135090	Chromatin interaction

Extended variants
information (count: 72 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs11068847	0.85[ASN][1000 genomes]
rs11068853	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[ASN][1000 genomes]
rs11068854	1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.87[ASN][1000 genomes]
rs11068855	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[ASN][1000 genomes]
rs11068856	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs11068860	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11068865	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11068870	0.90[ASN][1000 genomes]
rs11068871	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11068872	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11068878	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11068880	0.94[CHB][hapmap];0.92[JPT][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11068881	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11068883	0.81[AMR][1000 genomes]
rs11068887	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11068888	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11068889	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11068891	0.88[CHB][hapmap]
rs11068892	0.82[ASN][1000 genomes]
rs11068893	0.94[CHB][hapmap];0.92[JPT][hapmap];0.82[YRI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11068896	1.00[EUR][1000 genomes]
rs11068898	0.94[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11068899	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11068900	0.94[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap]
rs11068901	0.94[CHB][hapmap];0.91[JPT][hapmap];1.00[EUR][1000 genomes]
rs11068904	0.88[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11068908	0.88[CHB][hapmap]
rs11068909	0.94[CHB][hapmap];0.91[JPT][hapmap];1.00[EUR][1000 genomes]
rs11068914	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11068915	0.94[CHB][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11068916	0.94[CHB][hapmap];0.82[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11068917	0.88[CHB][hapmap]
rs11068919	0.83[CHB][hapmap]
rs11068920	1.00[EUR][1000 genomes]
rs11068923	0.88[CHB][hapmap];1.00[EUR][1000 genomes]
rs11068924	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11068930	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11068937	1.00[EUR][1000 genomes]
rs11068940	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11068941	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11068943	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11068945	1.00[EUR][1000 genomes]
rs12227411	0.88[CHB][hapmap];0.91[JPT][hapmap];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12227974	0.94[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12228425	0.94[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12230104	1.00[EUR][1000 genomes]
rs12231358	1.00[EUR][1000 genomes]
rs12231845	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16948250	0.83[CHB][hapmap]
rs17586342	0.94[CHB][hapmap];0.84[JPT][hapmap];0.83[ASN][1000 genomes]
rs17586582	0.94[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17619569	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[ASN][1000 genomes]
rs17619702	1.00[CHB][hapmap];0.91[JPT][hapmap];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17619805	0.94[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17619932	0.88[CHB][hapmap]
rs2062520	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2271007	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2280711	0.94[CHB][hapmap];0.83[JPT][hapmap];0.93[ASN][1000 genomes]
rs3741444	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61945175	0.87[ASN][1000 genomes]
rs61945176	0.90[ASN][1000 genomes]
rs7132582	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7136216	0.94[CHB][hapmap];0.84[JPT][hapmap];0.92[ASN][1000 genomes]
rs7296216	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73222056	0.93[ASN][1000 genomes]
rs7974718	0.88[CHB][hapmap]
rs9888447	0.93[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]

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:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118576000-118624000	Weak transcription	Stomach Mucosa	stomach
2	chr12:118584000-118627600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr12:118599800-118625600	Weak transcription	Pancreas	Pancrea
4	chr12:118603600-118625400	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr12:118610200-118624000	Weak transcription	Small Intestine	intestine
6	chr12:118610600-118625400	Weak transcription	Psoas Muscle	Psoas
7	chr12:118610600-118627600	Weak transcription	Esophagus	oesophagus
8	chr12:118612400-118626800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr12:118614400-118625600	Weak transcription	Right Ventricle	heart
10	chr12:118615200-118625400	Weak transcription	K562	blood
11	chr12:118617200-118625600	Weak transcription	Rectal Smooth Muscle	rectum
12	chr12:118617200-118625600	Weak transcription	NH-A	brain
13	chr12:118617200-118634400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr12:118617400-118625400	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr12:118619200-118623800	Weak transcription	Fetal Brain Male	brain
16	chr12:118619200-118625000	Weak transcription	Aorta	Aorta
17	chr12:118619200-118625600	Weak transcription	Placenta	Placenta
18	chr12:118619200-118626600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr12:118619200-118627600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr12:118619200-118638600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
21	chr12:118619400-118623400	Weak transcription	Primary B cells from cord blood	blood
22	chr12:118619400-118623600	Weak transcription	Fetal Brain Female	brain
23	chr12:118619400-118623800	Weak transcription	HMEC	breast
24	chr12:118619400-118624000	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr12:118619400-118624600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr12:118619400-118625400	Weak transcription	HSMMtube	muscle
27	chr12:118619400-118625600	Weak transcription	Ovary	ovary
28	chr12:118619400-118626200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr12:118619400-118626600	Weak transcription	Fetal Muscle Trunk	muscle
30	chr12:118619400-118626600	Weak transcription	Left Ventricle	heart
31	chr12:118619400-118626800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr12:118619400-118626800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr12:118619400-118627400	Weak transcription	Lung	lung
34	chr12:118619400-118627600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr12:118619400-118627600	Weak transcription	Colonic Mucosa	Colon
36	chr12:118619400-118635200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr12:118619400-118635800	Weak transcription	Gastric	stomach
38	chr12:118619400-118635800	Weak transcription	Spleen	Spleen
39	chr12:118619600-118622400	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr12:118619600-118622600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr12:118619600-118623200	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr12:118619600-118623600	Weak transcription	Primary T cells fromperipheralblood	blood
43	chr12:118619600-118624400	Weak transcription	Primary neutrophils fromperipheralblood	blood
44	chr12:118619600-118624800	Weak transcription	Primary T helper cells fromperipheralblood	blood
45	chr12:118619600-118625400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr12:118619600-118625400	Weak transcription	Primary T cells from cord blood	blood
47	chr12:118619600-118625400	Weak transcription	Fetal Muscle Leg	muscle
48	chr12:118619600-118625400	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr12:118619600-118625600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr12:118619600-118625600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood

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