Variant report

Variant	rs61187102
Chromosome Location	chr12:123639869-123639870
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:123639375..123642354-chr12:123646005..123648367,2	K562	blood:
2	chr12:123634522..123637208-chr12:123639726..123642249,4	K562	blood:
3	chr12:123634064..123637299-chr12:123639365..123644376,5	K562	blood:
4	chr12:123637836..123642861-chr12:123644495..123649304,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000090975	Chromatin interaction
ENSG00000051825	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs1051434	0.82[ASN][1000 genomes]
rs11057189	0.83[ASN][1000 genomes]
rs11554169	0.88[AFR][1000 genomes]
rs1615350	0.87[ASN][1000 genomes]
rs1716184	0.82[ASN][1000 genomes]
rs1727293	0.82[ASN][1000 genomes]
rs1727302	0.86[ASN][1000 genomes]
rs1727305	0.80[ASN][1000 genomes]
rs1727312	0.83[ASN][1000 genomes]
rs2090764	0.83[AFR][1000 genomes]
rs2102949	0.84[ASN][1000 genomes]
rs2280424	0.88[AFR][1000 genomes]
rs28362667	0.84[AMR][1000 genomes]
rs28362669	0.89[AMR][1000 genomes]
rs2851443	0.80[ASN][1000 genomes]
rs2851447	0.90[ASN][1000 genomes]
rs36121382	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs3759111	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs3759113	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3759114	0.83[AFR][1000 genomes]
rs4460848	0.84[ASN][1000 genomes]
rs4474478	0.83[AFR][1000 genomes]
rs4474479	0.83[AFR][1000 genomes]
rs4594040	0.83[AFR][1000 genomes]
rs4759367	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4759406	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4759407	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4759408	0.84[AMR][1000 genomes]
rs4759411	0.88[AFR][1000 genomes]
rs4759413	0.88[AFR][1000 genomes]
rs4759414	0.88[AFR][1000 genomes]
rs4759418	0.83[AFR][1000 genomes]
rs57676984	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs58991895	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60077920	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs60296110	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61041384	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61231969	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3388790	chr12:123275902-123655103	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv517200	chr12:123312051-123654498	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv427924	chr12:123412172-123722059	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
4	nsv1042550	chr12:123532028-123659500	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	esv1825473	chr12:123582855-123822503	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
6	nsv870326	chr12:123585990-123719323	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
7	esv2761773	chr12:123616003-123723460	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123636400-123640000	Weak transcription	K562	blood
2	chr12:123636400-123640400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr12:123636400-123644600	Weak transcription	GM12878-XiMat	blood
4	chr12:123636400-123648000	Weak transcription	Fetal Kidney	kidney
5	chr12:123636400-123649000	Weak transcription	Small Intestine	intestine
6	chr12:123636400-123649200	Weak transcription	Brain Angular Gyrus	brain
7	chr12:123636400-123649800	Weak transcription	Ovary	ovary
8	chr12:123636400-123650200	Weak transcription	Aorta	Aorta
9	chr12:123636600-123640000	Weak transcription	HSMM	muscle
10	chr12:123636600-123640200	Weak transcription	Fetal Brain Female	brain
11	chr12:123636600-123640400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr12:123636600-123644600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr12:123636600-123644800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr12:123636600-123644800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr12:123636600-123645000	Weak transcription	NH-A	brain
16	chr12:123636600-123645200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr12:123636600-123645200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr12:123636600-123645200	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr12:123636600-123647000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr12:123636600-123647000	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr12:123636600-123647400	Weak transcription	HMEC	breast
22	chr12:123636600-123647600	Weak transcription	NHEK	skin
23	chr12:123636600-123648400	Weak transcription	Brain Hippocampus Middle	brain
24	chr12:123636600-123648400	Weak transcription	HSMMtube	muscle
25	chr12:123636600-123660800	Weak transcription	Colon Smooth Muscle	Colon
26	chr12:123636600-123676200	Weak transcription	Gastric	stomach
27	chr12:123636600-123716600	Weak transcription	Esophagus	oesophagus
28	chr12:123636800-123640000	Weak transcription	Primary T cells from cord blood	blood
29	chr12:123636800-123640000	Weak transcription	A549	lung
30	chr12:123636800-123640200	Weak transcription	Primary hematopoietic stem cells	blood
31	chr12:123636800-123640200	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr12:123636800-123643200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr12:123636800-123644200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr12:123636800-123645200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr12:123636800-123645200	Weak transcription	NHDF-Ad	bronchial
36	chr12:123636800-123646200	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr12:123636800-123646400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr12:123636800-123647200	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr12:123636800-123647400	Weak transcription	Placenta	Placenta
40	chr12:123636800-123647800	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr12:123636800-123648000	Weak transcription	Brain Anterior Caudate	brain
42	chr12:123636800-123649000	Weak transcription	Right Ventricle	heart
43	chr12:123636800-123649200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr12:123636800-123649200	Weak transcription	Fetal Intestine Large	intestine
45	chr12:123636800-123650200	Weak transcription	Brain Substantia Nigra	brain
46	chr12:123636800-123675200	Weak transcription	Fetal Heart	heart
47	chr12:123636800-123679600	Weak transcription	Colonic Mucosa	Colon
48	chr12:123636800-123687400	Weak transcription	Psoas Muscle	Psoas
49	chr12:123637000-123640000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr12:123637000-123640000	Weak transcription	Monocytes-CD14+_RO01746	blood

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