Variant report

Variant	rs3088113
Chromosome Location	chr12:106633569-106633570
allele	A/C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:106620940..106625050-chr12:106630217..106634289,4	MCF-7	breast:
2	chr12:106627619..106631130-chr12:106633186..106636182,4	MCF-7	breast:
3	chr12:106630802..106633610-chr12:106666760..106669656,2	MCF-7	breast:
4	chr12:106633129..106634918-chr12:106751021..106753631,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000013503	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11112908	0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11112915	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1148413	0.84[ASN][1000 genomes]
rs1148415	0.84[ASN][1000 genomes]
rs1148417	0.84[ASN][1000 genomes]
rs1148419	0.89[ASN][1000 genomes]
rs1148421	0.89[ASN][1000 genomes]
rs1148422	0.87[ASN][1000 genomes]
rs1215740	0.89[ASN][1000 genomes]
rs1215741	0.90[ASN][1000 genomes]
rs1215757	0.83[ASN][1000 genomes]
rs1215759	0.84[ASN][1000 genomes]
rs1215761	0.81[ASN][1000 genomes]
rs1215807	0.89[ASN][1000 genomes]
rs12227822	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12231439	0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1237262	0.89[ASN][1000 genomes]
rs1238021	0.81[ASN][1000 genomes]
rs2649718	0.89[ASN][1000 genomes]
rs3741882	0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3782699	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs61942136	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1830730	chr12:106621530-106642222	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	esv1839947	chr12:106622186-106642064	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	esv1797996	chr12:106622186-106642222	Genic enhancers Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:106621400-106638200	Weak transcription	Primary hematopoietic stem cells	blood
2	chr12:106622200-106639000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr12:106622200-106639600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr12:106625200-106636800	Weak transcription	Right Atrium	heart
5	chr12:106625200-106640800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr12:106627600-106634400	Strong transcription	Fetal Brain Female	brain
7	chr12:106628600-106638600	Weak transcription	Fetal Brain Male	brain
8	chr12:106628800-106637000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr12:106629000-106634400	Strong transcription	Muscle Satellite Cultured Cells	--
10	chr12:106629000-106638400	Strong transcription	Fetal Muscle Trunk	muscle
11	chr12:106629200-106636200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr12:106629200-106636600	Strong transcription	Osteobl	bone
13	chr12:106629200-106636800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr12:106629200-106637600	Strong transcription	Fetal Stomach	stomach
15	chr12:106629400-106637000	Strong transcription	NHDF-Ad	bronchial
16	chr12:106629400-106639000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr12:106629600-106634200	Strong transcription	Fetal Muscle Leg	muscle
18	chr12:106629600-106634600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr12:106629800-106635800	Weak transcription	Fetal Kidney	kidney
20	chr12:106630000-106633600	Weak transcription	Stomach Mucosa	stomach
21	chr12:106630000-106636800	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr12:106630200-106634200	Strong transcription	Stomach Smooth Muscle	stomach
23	chr12:106630200-106635200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr12:106630200-106638600	Weak transcription	Hela-S3	cervix
25	chr12:106630200-106638600	Strong transcription	NHLF	lung
26	chr12:106630400-106634000	Strong transcription	Fetal Lung	lung
27	chr12:106630400-106634200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr12:106630400-106634200	Strong transcription	Fetal Intestine Small	intestine
29	chr12:106630400-106634400	Strong transcription	Esophagus	oesophagus
30	chr12:106630400-106636400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr12:106630400-106637200	Strong transcription	Primary monocytes fromperipheralblood	blood
32	chr12:106630400-106637200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr12:106630400-106637400	Strong transcription	NHEK	skin
34	chr12:106630400-106638200	Strong transcription	HSMM	muscle
35	chr12:106630600-106634800	Strong transcription	HSMMtube	muscle
36	chr12:106630600-106638600	Weak transcription	Small Intestine	intestine
37	chr12:106630800-106634000	Strong transcription	Lung	lung
38	chr12:106630800-106634400	Strong transcription	Rectal Mucosa Donor 31	rectum
39	chr12:106630800-106636600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr12:106631200-106636800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr12:106631400-106634400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr12:106631400-106634400	Strong transcription	HUVEC	blood vessel
43	chr12:106631400-106634800	Strong transcription	Adipose Nuclei	Adipose
44	chr12:106631400-106634800	Weak transcription	Thymus	Thymus
45	chr12:106631400-106638400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
46	chr12:106631400-106638600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr12:106631600-106634200	Strong transcription	Brain Germinal Matrix	brain
48	chr12:106631600-106638400	Strong transcription	Cortex derived primary cultured neurospheres	brain
49	chr12:106631800-106634000	Strong transcription	Gastric	stomach
50	chr12:106631800-106634200	Strong transcription	H9 Cell Line	embryonic stem cell

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