Variant report

Variant	rs11068914
Chromosome Location	chr12:118781738-118781739
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:118779295..118781824-chr12:118782291..118786005,4	K562	blood:
2	chr12:118779976..118782774-chr12:118809831..118812312,2	K562	blood:
3	chr12:118773930..118776516-chr12:118779431..118781891,3	K562	blood:
4	chr12:118775460..118777770-chr12:118780003..118783654,3	K562	blood:
5	chr12:118626469..118629447-chr12:118780334..118782967,2	K562	blood:
6	chr12:118778728..118784992-chr12:118810812..118815576,8	K562	blood:

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

Extended variants
information (count: 71 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11068860	0.83[EUR][1000 genomes]
rs11068864	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11068865	0.83[EUR][1000 genomes]
rs11068871	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11068872	1.00[AMR][1000 genomes]
rs11068878	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11068880	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11068881	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11068883	0.82[ASN][1000 genomes]
rs11068887	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11068888	0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11068889	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11068891	0.87[ASN][1000 genomes]
rs11068892	0.91[ASN][1000 genomes]
rs11068893	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11068896	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11068898	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11068899	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11068901	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11068904	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11068906	0.89[ASN][1000 genomes]
rs11068908	0.89[ASN][1000 genomes]
rs11068909	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11068915	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11068916	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11068917	0.91[ASN][1000 genomes]
rs11068919	0.90[ASN][1000 genomes]
rs11068920	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11068922	0.92[ASN][1000 genomes]
rs11068923	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11068924	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11068926	0.88[ASN][1000 genomes]
rs11068930	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11068937	0.83[EUR][1000 genomes]
rs11068940	0.83[EUR][1000 genomes]
rs11068941	0.83[EUR][1000 genomes]
rs11068943	0.83[EUR][1000 genomes]
rs11068945	0.83[EUR][1000 genomes]
rs12227411	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12227974	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12228425	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12229607	0.92[ASN][1000 genomes]
rs12230104	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12231358	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12231845	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17586582	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17619702	0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs17619805	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17619932	0.95[ASN][1000 genomes]
rs2036314	0.88[ASN][1000 genomes]
rs2062520	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2271007	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3741444	0.93[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4442583	0.88[ASN][1000 genomes]
rs61943365	0.94[ASN][1000 genomes]
rs61943369	0.88[ASN][1000 genomes]
rs61943370	0.87[ASN][1000 genomes]
rs61943371	0.87[ASN][1000 genomes]
rs61945207	0.82[ASN][1000 genomes]
rs61945219	0.87[ASN][1000 genomes]
rs6490177	0.91[ASN][1000 genomes]
rs7132582	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7296216	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73222058	0.85[ASN][1000 genomes]
rs7963464	0.87[ASN][1000 genomes]
rs7974718	0.85[ASN][1000 genomes]
rs9888447	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv1038224	chr12:118648415-118791388	Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1040061	chr12:118648415-118800437	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv1053417	chr12:118688969-118808530	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118720800-118793600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr12:118746000-118783200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr12:118746200-118785000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr12:118752800-118783200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr12:118754600-118782200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr12:118768800-118790400	Weak transcription	Primary T cells from cord blood	blood
7	chr12:118769000-118783200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr12:118769000-118783200	Weak transcription	Brain Anterior Caudate	brain
9	chr12:118769000-118784000	Weak transcription	Duodenum Mucosa	Duodenum
10	chr12:118769200-118782000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr12:118769200-118783200	Weak transcription	Gastric	stomach
12	chr12:118769200-118785000	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr12:118769200-118785800	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr12:118769200-118791000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr12:118769800-118782600	Weak transcription	Fetal Intestine Small	intestine
16	chr12:118770000-118785200	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr12:118774000-118792400	Weak transcription	Dnd41	blood
18	chr12:118774200-118782000	Weak transcription	Monocytes-CD14+_RO01746	blood
19	chr12:118774800-118783200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr12:118775800-118783000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr12:118775800-118792000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr12:118775800-118792600	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr12:118776000-118782000	Weak transcription	Primary B cells from cord blood	blood
24	chr12:118776200-118784400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr12:118776200-118792000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr12:118776400-118783200	Weak transcription	NHLF	lung
27	chr12:118777000-118781800	Weak transcription	K562	blood
28	chr12:118777000-118782000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr12:118777000-118782000	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr12:118777000-118782000	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr12:118777000-118782200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr12:118777000-118782800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr12:118777000-118791000	Weak transcription	NHDF-Ad	bronchial
34	chr12:118777200-118784800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr12:118777400-118782000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr12:118778200-118782800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr12:118778400-118782800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
38	chr12:118778800-118782200	Weak transcription	GM12878-XiMat	blood
39	chr12:118778800-118783200	Weak transcription	Pancreas	Pancrea
40	chr12:118780000-118790400	Weak transcription	Liver	Liver
41	chr12:118780200-118784400	Weak transcription	Fetal Intestine Large	intestine
42	chr12:118780200-118784600	Weak transcription	Brain Angular Gyrus	brain
43	chr12:118780200-118784800	Weak transcription	Stomach Mucosa	stomach
44	chr12:118780400-118785600	Weak transcription	A549	lung
45	chr12:118780600-118783000	Weak transcription	Primary T helper cells PMA-I stimulated	--
46	chr12:118780600-118783400	Weak transcription	Primary T helper cells fromperipheralblood	blood
47	chr12:118780800-118781800	Weak transcription	Primary hematopoietic stem cells	blood
48	chr12:118780800-118782200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
49	chr12:118780800-118784800	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr12:118781000-118793600	Weak transcription	NHEK	skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links