Variant report

Variant	rs71457140
Chromosome Location	chr12:12394993-12394994
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:12393044..12397840-chr12:12419223..12421821,5	MCF-7	breast:
2	chr12:12389441..12390958-chr12:12394768..12397080,2	K562	blood:
3	chr12:12390182..12397827-chr12:12417123..12421502,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000070018	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11054736	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11054738	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11054741	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11611108	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1181332	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1181334	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12372237	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12820350	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12823867	0.98[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34201398	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4763790	0.90[AMR][1000 genomes]
rs56084505	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61920856	0.92[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	nsv949003	chr12:11938229-12618690	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers 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 miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv529005	chr12:12254756-12412795	Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
3	esv3427115	chr12:12262415-12432411	Active TSS Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
4	nsv898806	chr12:12264471-12453808	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
5	nsv832332	chr12:12344027-12484966	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:12368400-12417200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr12:12377800-12407200	Weak transcription	NH-A	brain
3	chr12:12379200-12396800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr12:12384800-12417200	Weak transcription	K562	blood
5	chr12:12385000-12396600	Weak transcription	Left Ventricle	heart
6	chr12:12385000-12396800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr12:12385000-12404000	Weak transcription	Lung	lung
8	chr12:12385000-12417800	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr12:12385200-12409200	Weak transcription	Pancreas	Pancrea
10	chr12:12386600-12396800	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr12:12389600-12396400	Weak transcription	Fetal Stomach	stomach
12	chr12:12390000-12416600	Weak transcription	Psoas Muscle	Psoas
13	chr12:12390200-12396400	Weak transcription	Fetal Intestine Small	intestine
14	chr12:12390200-12397400	Weak transcription	Small Intestine	intestine
15	chr12:12390400-12398800	Weak transcription	Fetal Muscle Leg	muscle
16	chr12:12390400-12400400	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr12:12390600-12396800	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr12:12390800-12417800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr12:12391200-12395200	Weak transcription	Fetal Heart	heart
20	chr12:12391200-12399600	Weak transcription	HSMM	muscle
21	chr12:12391600-12395600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr12:12392200-12396600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr12:12392200-12403000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr12:12392400-12396600	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr12:12392400-12396800	Weak transcription	Primary T cells from cord blood	blood
26	chr12:12392400-12397400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr12:12392400-12407800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr12:12392600-12408200	Weak transcription	Stomach Smooth Muscle	stomach
29	chr12:12392800-12399800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr12:12393200-12405000	Weak transcription	HUVEC	blood vessel
31	chr12:12393400-12399400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr12:12393600-12395200	Enhancers	Brain Angular Gyrus	brain
33	chr12:12393600-12396200	Enhancers	Brain Inferior Temporal Lobe	brain
34	chr12:12393600-12396200	Enhancers	A549	lung
35	chr12:12393600-12396800	Weak transcription	Fetal Muscle Trunk	muscle
36	chr12:12393600-12397400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr12:12393800-12395400	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr12:12393800-12395600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr12:12393800-12395800	Enhancers	Brain Germinal Matrix	brain
40	chr12:12393800-12399000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr12:12394000-12395400	Weak transcription	Ovary	ovary
42	chr12:12394000-12396800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr12:12394000-12396800	Weak transcription	Fetal Lung	lung
44	chr12:12394200-12395000	Weak transcription	Liver	Liver
45	chr12:12394200-12395000	Enhancers	Brain Anterior Caudate	brain
46	chr12:12394200-12395000	Flanking Active TSS	HepG2	liver
47	chr12:12394200-12395400	Enhancers	Fetal Brain Male	brain
48	chr12:12394200-12395600	Weak transcription	Stomach Mucosa	stomach
49	chr12:12394200-12395800	Weak transcription	NHLF	lung
50	chr12:12394200-12396600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung

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