Variant report

Variant	rs73181823
Chromosome Location	chr12:105647950-105647951
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:105646719..105649373-chr12:105657582..105659204,2	K562	blood:
2	chr12:105628268..105630407-chr12:105646094..105648967,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000235162	Chromatin interaction
ENSG00000136044	Chromatin interaction

Extended variants
information (count: 89 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:86)

rs_ID	r²[population]
rs1107755	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1107757	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112424	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112428	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs11112434	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1196742	0.83[EUR][1000 genomes]
rs1196745	0.83[EUR][1000 genomes]
rs1196748	0.83[EUR][1000 genomes]
rs1196749	0.83[EUR][1000 genomes]
rs1196753	0.88[EUR][1000 genomes]
rs1196754	0.88[EUR][1000 genomes]
rs1196756	0.83[EUR][1000 genomes]
rs1196764	0.85[EUR][1000 genomes]
rs1196765	0.86[EUR][1000 genomes]
rs1196770	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1196772	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1196777	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1196780	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1196782	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1196786	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1196787	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1196789	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1196790	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1196791	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1196793	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1196795	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1196797	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1196798	0.83[EUR][1000 genomes]
rs1196800	0.84[EUR][1000 genomes]
rs1196801	0.84[EUR][1000 genomes]
rs1196805	0.84[EUR][1000 genomes]
rs1196806	0.84[EUR][1000 genomes]
rs1196807	0.84[EUR][1000 genomes]
rs1196808	0.83[EUR][1000 genomes]
rs1196811	0.83[EUR][1000 genomes]
rs1196813	0.84[EUR][1000 genomes]
rs1196817	0.84[EUR][1000 genomes]
rs1196819	0.84[EUR][1000 genomes]
rs1196820	0.84[EUR][1000 genomes]
rs1196823	0.83[EUR][1000 genomes]
rs1196825	0.84[EUR][1000 genomes]
rs1196831	0.84[EUR][1000 genomes]
rs1196833	0.84[EUR][1000 genomes]
rs1196839	0.84[EUR][1000 genomes]
rs1196841	0.84[EUR][1000 genomes]
rs1196842	0.84[EUR][1000 genomes]
rs1196844	0.84[EUR][1000 genomes]
rs1196848	0.84[EUR][1000 genomes]
rs1196851	0.83[EUR][1000 genomes]
rs1196853	0.83[EUR][1000 genomes]
rs1196859	0.81[EUR][1000 genomes]
rs1196861	0.83[EUR][1000 genomes]
rs1196862	0.82[EUR][1000 genomes]
rs1196864	0.83[EUR][1000 genomes]
rs1196869	0.83[EUR][1000 genomes]
rs1196871	0.82[EUR][1000 genomes]
rs1196872	0.83[EUR][1000 genomes]
rs1196873	0.83[EUR][1000 genomes]
rs1196874	0.84[EUR][1000 genomes]
rs1206559	0.84[EUR][1000 genomes]
rs1209637	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1211276	0.84[EUR][1000 genomes]
rs1211277	0.84[EUR][1000 genomes]
rs1211626	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12369709	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12814458	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12816560	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1444610	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1663565	0.83[EUR][1000 genomes]
rs1732370	0.84[EUR][1000 genomes]
rs2257156	0.83[EUR][1000 genomes]
rs2440718	0.84[EUR][1000 genomes]
rs2464173	0.84[EUR][1000 genomes]
rs2464175	0.83[EUR][1000 genomes]
rs2464181	0.84[EUR][1000 genomes]
rs2464182	0.83[EUR][1000 genomes]
rs35679386	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67604711	0.91[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs71441895	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs873119	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs935240	0.84[EUR][1000 genomes]
rs935241	0.84[EUR][1000 genomes]
rs935242	0.84[EUR][1000 genomes]
rs935244	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs935248	0.83[EUR][1000 genomes]
rs935249	0.83[EUR][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	nsv455704	chr12:105583877-105651356	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
2	nsv560053	chr12:105583877-105651356	Genic enhancers Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
3	nsv899499	chr12:105616297-105722529	Bivalent Enhancer Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105645800-105648200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr12:105646400-105651000	Enhancers	Osteobl	bone
3	chr12:105647000-105648200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr12:105647000-105649600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr12:105647000-105650000	Enhancers	Breast Myoepithelial Primary Cells	Breast
6	chr12:105647000-105652600	Enhancers	HSMMtube	muscle
7	chr12:105647000-105653400	Enhancers	NHLF	lung
8	chr12:105647200-105651000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr12:105647200-105651800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr12:105647400-105648000	Enhancers	Stomach Mucosa	stomach
11	chr12:105647400-105648000	Bivalent Enhancer	K562	blood
12	chr12:105647400-105648200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
13	chr12:105647400-105648200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr12:105647400-105648200	Enhancers	Gastric	stomach
15	chr12:105647400-105649400	Enhancers	HUVEC	blood vessel
16	chr12:105647400-105653400	Enhancers	Placenta Amnion	Placenta Amnion
17	chr12:105647600-105648000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
18	chr12:105647600-105648000	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr12:105647600-105648000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr12:105647600-105648200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr12:105647600-105648200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr12:105647600-105648200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr12:105647600-105648200	Enhancers	Placenta	Placenta
24	chr12:105647600-105648200	Flanking Active TSS	Hela-S3	cervix
25	chr12:105647600-105648400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr12:105647600-105648400	Flanking Active TSS	A549	lung
27	chr12:105647600-105648600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr12:105647800-105648200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr12:105647800-105648200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr12:105647800-105648200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr12:105647800-105648200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr12:105647800-105648200	Enhancers	Esophagus	oesophagus
33	chr12:105647800-105648200	Flanking Active TSS	HMEC	breast
34	chr12:105647800-105648200	Flanking Active TSS	HSMM	muscle
35	chr12:105647800-105648200	Flanking Active TSS	NH-A	brain
36	chr12:105647800-105648200	Flanking Active TSS	NHDF-Ad	bronchial
37	chr12:105647800-105648200	Flanking Active TSS	NHEK	skin
38	chr12:105647800-105649000	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr12:105647800-105649800	Weak transcription	Aorta	Aorta

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