Variant report

Variant	rs55916348
Chromosome Location	chr12:105382941-105382942
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:105349646..105353787-chr12:105376379..105382982,10	MCF-7	breast:
2	chr12:105349138..105353350-chr12:105380237..105383582,4	MCF-7	breast:
3	chr12:105379993..105381811-chr12:105382055..105386132,5	K562	blood:
4	chr12:105378619..105382506-chr12:105382781..105387261,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000151131	Chromatin interaction
ENSG00000136052	Chromatin interaction

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10082824	1.00[ASN][1000 genomes]
rs10083185	1.00[ASN][1000 genomes]
rs11112291	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112292	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112293	0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112294	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112295	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112315	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112316	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112318	0.83[AFR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11112333	1.00[ASN][1000 genomes]
rs11112381	1.00[ASN][1000 genomes]
rs11112389	1.00[ASN][1000 genomes]
rs11495192	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11829598	1.00[ASN][1000 genomes]
rs12307372	1.00[ASN][1000 genomes]
rs12369202	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12369490	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12372369	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12372454	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12425803	1.00[ASN][1000 genomes]
rs17036595	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17036608	0.83[AFR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1801070	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35149056	1.00[ASN][1000 genomes]
rs3910856	1.00[ASN][1000 genomes]
rs55679730	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56284118	1.00[ASN][1000 genomes]
rs6539184	1.00[ASN][1000 genomes]
rs7138574	1.00[ASN][1000 genomes]
rs7300730	1.00[ASN][1000 genomes]
rs7310860	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7313309	1.00[ASN][1000 genomes]
rs7315964	1.00[ASN][1000 genomes]
rs73179946	1.00[ASN][1000 genomes]
rs73179970	1.00[ASN][1000 genomes]
rs73179974	1.00[ASN][1000 genomes]
rs73179990	1.00[ASN][1000 genomes]
rs73191788	1.00[ASN][1000 genomes]
rs73193611	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73193619	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73193626	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73193630	0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73193631	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7956643	0.83[AFR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7966109	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7975787	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899495	chr12:104990469-105527011	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv899498	chr12:105173598-105461620	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	22 gene(s)	inside rSNPs	diseases
3	nsv832505	chr12:105315352-105497765	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv869	chr12:105363425-105394904	Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Strong transcription Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105380800-105383200	Weak transcription	Left Ventricle	heart
2	chr12:105380800-105383800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr12:105380800-105386000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:105380800-105386200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr12:105380800-105386200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr12:105380800-105386400	Weak transcription	Esophagus	oesophagus
7	chr12:105381000-105384000	Weak transcription	Fetal Muscle Trunk	muscle
8	chr12:105381000-105386000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr12:105381000-105386800	Weak transcription	Psoas Muscle	Psoas
10	chr12:105381000-105388600	Weak transcription	Right Ventricle	heart
11	chr12:105381200-105383200	Weak transcription	Fetal Intestine Large	intestine
12	chr12:105381200-105384800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr12:105381400-105383000	Weak transcription	Fetal Kidney	kidney
14	chr12:105381400-105385000	Weak transcription	Fetal Heart	heart
15	chr12:105381400-105385600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr12:105381400-105385600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr12:105381400-105386000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr12:105381600-105383000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr12:105381600-105383000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr12:105381600-105383200	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr12:105381600-105383400	Weak transcription	Primary B cells from peripheral blood	blood
22	chr12:105381600-105383800	Enhancers	HepG2	liver
23	chr12:105381600-105384200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr12:105381600-105384200	Weak transcription	Stomach Smooth Muscle	stomach
25	chr12:105381600-105384600	Weak transcription	Fetal Stomach	stomach
26	chr12:105381600-105384800	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr12:105381600-105384800	Weak transcription	Brain Anterior Caudate	brain
28	chr12:105381600-105385000	Weak transcription	Placenta	Placenta
29	chr12:105381600-105385400	Weak transcription	NHDF-Ad	bronchial
30	chr12:105381600-105385800	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr12:105381600-105385800	Weak transcription	NHLF	lung
32	chr12:105381600-105386000	Weak transcription	Colonic Mucosa	Colon
33	chr12:105381600-105386200	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr12:105381600-105386400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr12:105381600-105387000	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr12:105381600-105388600	Weak transcription	Spleen	Spleen
37	chr12:105381600-105392400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr12:105381600-105392400	Weak transcription	Stomach Mucosa	stomach
39	chr12:105381800-105383000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr12:105381800-105383200	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr12:105381800-105383800	Weak transcription	Osteobl	bone
42	chr12:105381800-105384400	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr12:105381800-105384600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr12:105381800-105384600	Weak transcription	Pancreas	Pancrea
45	chr12:105381800-105384800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
46	chr12:105381800-105384800	Weak transcription	Brain Substantia Nigra	brain
47	chr12:105381800-105384800	Weak transcription	Fetal Intestine Small	intestine
48	chr12:105381800-105385200	Weak transcription	Brain Hippocampus Middle	brain
49	chr12:105381800-105385600	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr12:105381800-105385800	Weak transcription	Brain Cingulate Gyrus	brain

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