Variant report

Variant	rs1684146
Chromosome Location	chr12:32268634-32268635
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:32258139..32262130-chr12:32264296..32270162,5	K562	blood:
2	chr12:32264689..32269066-chr12:32271365..32275666,5	K562	blood:
3	chr12:32266483..32268686-chr12:32270377..32273170,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000257530	Chromatin interaction
ENSG00000151746	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10771921	0.88[AMR][1000 genomes]
rs10844137	0.88[AMR][1000 genomes]
rs10844139	0.88[AMR][1000 genomes]
rs1151009	0.85[AMR][1000 genomes]
rs1151010	0.85[AMR][1000 genomes]
rs1151011	0.88[AMR][1000 genomes]
rs1151012	0.88[AMR][1000 genomes]
rs1151016	0.85[EUR][1000 genomes]
rs1151026	0.80[AMR][1000 genomes]
rs1151027	0.80[AMR][1000 genomes]
rs1260708	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1261166	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1261167	0.84[AMR][1000 genomes]
rs1618256	0.82[EUR][1000 genomes]
rs1631036	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1673857	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1673858	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1684149	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1716937	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1798260	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1798265	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2458120	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2594013	0.88[AMR][1000 genomes]
rs2630566	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2630578	0.83[AMR][1000 genomes]
rs2652014	0.88[AMR][1000 genomes]
rs2652018	0.88[AMR][1000 genomes]
rs2668293	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4931613	0.88[AMR][1000 genomes]
rs4931614	0.88[AMR][1000 genomes]
rs4931615	0.81[AMR][1000 genomes]
rs4931616	0.88[AMR][1000 genomes]
rs6488034	0.88[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3363806	chr12:31872264-32410283	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	esv3508621	chr12:31872654-32410593	Weak transcription ZNF genes & repeats Active TSS Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	esv3508622	chr12:31872654-32410593	Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv976030	chr12:32153446-32307541	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv983498	chr12:32153446-32388092	Genic enhancers Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv898969	chr12:32224948-32375677	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv1042317	chr12:32228872-32316774	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	nsv1041733	chr12:32247427-32312547	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv531960	chr12:32257285-32775277	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:32261200-32271200	Weak transcription	Fetal Muscle Trunk	muscle
2	chr12:32261200-32277600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr12:32261200-32277600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:32261400-32273800	Weak transcription	Fetal Thymus	thymus
5	chr12:32262200-32271600	Weak transcription	Fetal Intestine Small	intestine
6	chr12:32262200-32273200	Weak transcription	Small Intestine	intestine
7	chr12:32262200-32275600	Weak transcription	Thymus	Thymus
8	chr12:32262400-32287400	Weak transcription	Primary T cells from cord blood	blood
9	chr12:32262400-32290200	Weak transcription	Primary B cells from cord blood	blood
10	chr12:32263200-32274000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr12:32263200-32287000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr12:32263600-32273200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr12:32264200-32272600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr12:32264400-32268800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr12:32264400-32271600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr12:32266800-32269000	Enhancers	Fetal Brain Male	brain
17	chr12:32267000-32269000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr12:32267400-32269000	Enhancers	H1 Cell Line	embryonic stem cell
19	chr12:32267400-32269200	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr12:32267400-32270200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr12:32267400-32270400	Enhancers	Hela-S3	cervix
22	chr12:32267400-32270600	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr12:32267400-32270600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr12:32267600-32270600	Enhancers	NHDF-Ad	bronchial
25	chr12:32267600-32270600	Enhancers	NHLF	lung
26	chr12:32267800-32270400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr12:32267800-32270600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr12:32267800-32270600	Enhancers	HSMM	muscle
29	chr12:32267800-32270600	Enhancers	HUVEC	blood vessel
30	chr12:32268000-32270600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr12:32268200-32269000	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr12:32268200-32269200	Flanking Active TSS	A549	lung
33	chr12:32268200-32270400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr12:32268400-32268800	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr12:32268400-32268800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr12:32268400-32268800	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr12:32268400-32268800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr12:32268400-32268800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr12:32268400-32268800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr12:32268400-32268800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr12:32268400-32268800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
42	chr12:32268400-32268800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
43	chr12:32268400-32268800	Enhancers	Left Ventricle	heart
44	chr12:32268400-32268800	Enhancers	Lung	lung
45	chr12:32268400-32268800	Enhancers	Right Atrium	heart
46	chr12:32268400-32268800	Flanking Active TSS	HMEC	breast
47	chr12:32268400-32269000	Enhancers	H9 Cell Line	embryonic stem cell
48	chr12:32268400-32269000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr12:32268400-32269000	Enhancers	Primary B cells from peripheral blood	blood
50	chr12:32268400-32269000	Enhancers	Aorta	Aorta

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