Variant report

Variant	rs11065234
Chromosome Location	chr12:121171060-121171061
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:121161764..121164291-chr12:121170206..121171996,2	K562	blood:
2	chr12:121169092..121171751-chr12:121174629..121176427,2	K562	blood:
3	chr12:121170705..121172790-chr12:121179544..121181594,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000122971	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs10431372	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10431383	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10849774	0.86[EUR][1000 genomes]
rs10849780	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10849781	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11065184	0.86[EUR][1000 genomes]
rs11065186	0.86[EUR][1000 genomes]
rs11065188	0.86[EUR][1000 genomes]
rs11065189	0.86[EUR][1000 genomes]
rs11065191	0.86[EUR][1000 genomes]
rs11065192	0.86[EUR][1000 genomes]
rs11065193	0.86[EUR][1000 genomes]
rs11065194	1.00[EUR][1000 genomes]
rs11065195	1.00[EUR][1000 genomes]
rs11065196	1.00[EUR][1000 genomes]
rs11065197	1.00[EUR][1000 genomes]
rs11065198	1.00[EUR][1000 genomes]
rs11065199	1.00[EUR][1000 genomes]
rs11065204	1.00[EUR][1000 genomes]
rs11065205	1.00[EUR][1000 genomes]
rs11065214	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11065215	1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11065217	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11065220	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11065221	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11065224	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11065229	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11065235	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11065238	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11065240	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11065241	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11065242	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11065243	0.88[ASN][1000 genomes]
rs11065244	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11065245	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11065246	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11065262	0.83[EUR][1000 genomes]
rs12228118	1.00[EUR][1000 genomes]
rs12228187	0.86[EUR][1000 genomes]
rs12229164	1.00[EUR][1000 genomes]
rs12229181	1.00[EUR][1000 genomes]
rs12231101	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12231499	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17848090	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2071266	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2229534	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2239687	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2239757	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2239759	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3751166	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3809310	0.86[EUR][1000 genomes]
rs3809311	0.86[EUR][1000 genomes]
rs7302002	1.00[EUR][1000 genomes]
rs7973568	1.00[EUR][1000 genomes];0.89[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	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv899557	chr12:121069201-121189116	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers 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	34 gene(s)	inside rSNPs	diseases
3	nsv1037070	chr12:121069938-121459047	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
4	nsv899558	chr12:121161589-121179939	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121164000-121177000	Weak transcription	Aorta	Aorta
2	chr12:121164200-121172600	Weak transcription	HSMMtube	muscle
3	chr12:121164200-121176400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr12:121164400-121174800	Weak transcription	Esophagus	oesophagus
5	chr12:121164400-121176000	Weak transcription	Primary neutrophils fromperipheralblood	blood
6	chr12:121164400-121176600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr12:121164400-121177600	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr12:121164400-121179600	Weak transcription	Primary B cells from peripheral blood	blood
9	chr12:121164600-121172600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr12:121164600-121177000	Weak transcription	Small Intestine	intestine
11	chr12:121164600-121177200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr12:121164600-121178000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr12:121164800-121171600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr12:121164800-121173600	Weak transcription	GM12878-XiMat	blood
15	chr12:121164800-121178800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr12:121165000-121175200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr12:121165000-121176000	Weak transcription	Fetal Heart	heart
18	chr12:121165000-121177800	Weak transcription	A549	lung
19	chr12:121165200-121179600	Weak transcription	Psoas Muscle	Psoas
20	chr12:121165600-121178000	Weak transcription	Stomach Mucosa	stomach
21	chr12:121166000-121174200	Weak transcription	Colonic Mucosa	Colon
22	chr12:121166000-121176200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr12:121166000-121179800	Strong transcription	Fetal Intestine Small	intestine
24	chr12:121167000-121178400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr12:121168000-121171200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr12:121168400-121179200	Weak transcription	HepG2	liver
27	chr12:121168600-121174800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr12:121168600-121175800	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr12:121168600-121176200	Weak transcription	Brain Hippocampus Middle	brain
30	chr12:121168600-121177000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr12:121168600-121196400	Weak transcription	Fetal Brain Female	brain
32	chr12:121168800-121171200	Weak transcription	Liver	Liver
33	chr12:121168800-121171400	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr12:121168800-121171600	Weak transcription	Primary T cells from cord blood	blood
35	chr12:121168800-121174200	Weak transcription	Brain Cingulate Gyrus	brain
36	chr12:121168800-121176400	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr12:121168800-121177800	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr12:121168800-121178800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr12:121168800-121178800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr12:121169000-121171200	Weak transcription	Duodenum Mucosa	Duodenum
41	chr12:121169000-121171200	Weak transcription	Fetal Muscle Trunk	muscle
42	chr12:121169000-121171200	Weak transcription	Pancreas	Pancrea
43	chr12:121169000-121171200	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr12:121169000-121171200	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr12:121169000-121171400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr12:121169000-121171600	Weak transcription	Spleen	Spleen
47	chr12:121169000-121171800	Weak transcription	Thymus	Thymus
48	chr12:121169000-121173600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr12:121169000-121174200	Weak transcription	Gastric	stomach
50	chr12:121169000-121174200	Weak transcription	Lung	lung

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