Variant report

Variant	rs695952
Chromosome Location	chr12:121178644-121178645
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:121158850..121162908-chr12:121176341..121179016,3	K562	blood:
2	chr12:121166701..121168249-chr12:121176996..121179213,2	MCF-7	breast:
3	chr12:121173832..121176734-chr12:121177102..121180443,4	K562	blood:

Variant related genes	Relation type
ENSG00000265455	Chromatin interaction
ENSG00000256569	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10774566	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11065223	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11065231	0.80[EUR][1000 genomes]
rs1464515	0.83[ASN][1000 genomes]
rs1464516	0.82[ASN][1000 genomes]
rs17847	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1814851	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2138249	0.82[ASN][1000 genomes]
rs2140093	0.83[ASN][1000 genomes]
rs2239760	0.82[EUR][1000 genomes]
rs3794214	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3794215	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3829290	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3914	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3915	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs548093	0.89[EUR][1000 genomes]
rs555404	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs556001	0.89[EUR][1000 genomes]
rs575437	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6490300	0.81[AMR][1000 genomes]
rs658521	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs695948	0.89[EUR][1000 genomes]
rs695949	0.92[EUR][1000 genomes]
rs696337	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs696339	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs696340	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs697854	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs708783	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7308648	0.92[EUR][1000 genomes]
rs7312316	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7976497	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7978125	0.81[EUR][1000 genomes];0.82[ASN][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	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
5	nsv1041153	chr12:121171986-121208826	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121164400-121179600	Weak transcription	Primary B cells from peripheral blood	blood
2	chr12:121164800-121178800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr12:121165200-121179600	Weak transcription	Psoas Muscle	Psoas
4	chr12:121166000-121179800	Strong transcription	Fetal Intestine Small	intestine
5	chr12:121168400-121179200	Weak transcription	HepG2	liver
6	chr12:121168600-121196400	Weak transcription	Fetal Brain Female	brain
7	chr12:121168800-121178800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr12:121168800-121178800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr12:121169200-121179000	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr12:121169200-121179600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr12:121169200-121180200	Weak transcription	Fetal Thymus	thymus
12	chr12:121171800-121179200	Strong transcription	Fetal Stomach	stomach
13	chr12:121172600-121180000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr12:121174200-121178800	Strong transcription	Right Ventricle	heart
15	chr12:121174600-121179000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr12:121175200-121179400	Strong transcription	Placenta	Placenta
17	chr12:121176800-121179600	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr12:121177200-121178800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr12:121177200-121178800	Weak transcription	Brain Anterior Caudate	brain
20	chr12:121177200-121179600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr12:121177200-121179800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr12:121177200-121180000	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr12:121177200-121183200	Weak transcription	Primary T cells from cord blood	blood
24	chr12:121177400-121179200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr12:121177400-121180800	Weak transcription	Rectal Smooth Muscle	rectum
26	chr12:121177400-121181400	Weak transcription	Brain Hippocampus Middle	brain
27	chr12:121177600-121178800	Weak transcription	Skeletal Muscle Female	skeletal muscle
28	chr12:121177600-121179000	Weak transcription	Fetal Intestine Large	intestine
29	chr12:121177600-121179200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr12:121177600-121179200	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr12:121177600-121179400	Weak transcription	Ovary	ovary
32	chr12:121177600-121179400	Weak transcription	Stomach Smooth Muscle	stomach
33	chr12:121177600-121180200	Weak transcription	Small Intestine	intestine
34	chr12:121177600-121180400	Enhancers	Liver	Liver
35	chr12:121177600-121184600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr12:121177600-121186000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr12:121177600-121186200	Weak transcription	Left Ventricle	heart
38	chr12:121177800-121178800	Weak transcription	Thymus	Thymus
39	chr12:121177800-121179000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr12:121177800-121179400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr12:121177800-121179400	Weak transcription	Adipose Nuclei	Adipose
42	chr12:121177800-121179400	Weak transcription	Duodenum Mucosa	Duodenum
43	chr12:121177800-121179400	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr12:121177800-121179600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr12:121177800-121180000	Weak transcription	Primary neutrophils fromperipheralblood	blood
46	chr12:121177800-121181400	Weak transcription	Dnd41	blood
47	chr12:121177800-121182400	Weak transcription	Brain Cingulate Gyrus	brain
48	chr12:121177800-121183000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr12:121177800-121186000	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr12:121177800-121186000	Weak transcription	Rectal Mucosa Donor 29	rectum

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