Variant report

Variant	rs12580271
Chromosome Location	chr12:105380143-105380144
allele	A/C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:105349646..105353787-chr12:105376379..105382982,10	MCF-7	breast:
2	chr12:53718302..53719271-chr12:105379712..105380362,2	NB4	blood:
3	chr12:105379925..105380593-chr5:79950231..79951164,2	HCT-116	colon:
4	chr12:105379411..105381004-chr12:105501090..105502694,2	MCF-7	breast:
5	chr12:105379932..105381513-chr12:105500073..105501775,2	MCF-7	breast:
6	chr12:105351138..105353772-chr12:105378582..105380234,3	MCF-7	breast:
7	chr10:120938058..120938919-chr12:105379858..105380461,2	NB4	blood:
8	chr12:105379882..105380391-chr2:26256742..26257507,2	MCF-7	breast:
9	chr12:7052689..7053433-chr12:105379811..105380628,2	HCT-116	colon:
10	chr12:105380127..105381694-chr12:105412344..105413961,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000094914	Chromatin interaction
ENSG00000238923	Chromatin interaction
ENSG00000136051	Chromatin interaction
ENSG00000084733	Chromatin interaction
ENSG00000111678	Chromatin interaction
ENSG00000257999	Chromatin interaction
ENSG00000136052	Chromatin interaction
ENSG00000165672	Chromatin interaction
ENSG00000228716	Chromatin interaction
ENSG00000113318	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs12579120	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12579129	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12579441	1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12579790	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12580237	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12580282	1.00[EUR][1000 genomes]
rs12580384	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12581352	0.87[ASN][1000 genomes]
rs12582090	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12582132	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17036606	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35938519	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61060789	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7135496	1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73383478	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73383483	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73383487	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73383495	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73383498	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73387230	1.00[EUR][1000 genomes];0.91[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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105379200-105380600	Active TSS	Liver	Liver
2	chr12:105379200-105380600	Active TSS	Hela-S3	cervix
3	chr12:105379200-105380600	Bivalent/Poised TSS	HepG2	liver
4	chr12:105379200-105380800	Active TSS	Breast Myoepithelial Primary Cells	Breast
5	chr12:105379200-105380800	Active TSS	NHEK	skin
6	chr12:105379200-105381200	Active TSS	Rectal Mucosa Donor 29	rectum
7	chr12:105379200-105381400	Active TSS	Duodenum Mucosa	Duodenum
8	chr12:105379200-105381400	Active TSS	GM12878-XiMat	blood
9	chr12:105379400-105380200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr12:105379400-105380600	Active TSS	Brain Angular Gyrus	brain
11	chr12:105379400-105380600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
12	chr12:105379400-105380600	Active TSS	Duodenum Smooth Muscle	Duodenum
13	chr12:105379400-105380600	Active TSS	Rectal Mucosa Donor 31	rectum
14	chr12:105379400-105380600	Active TSS	Stomach Smooth Muscle	stomach
15	chr12:105379400-105380800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr12:105379400-105380800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr12:105379400-105380800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
18	chr12:105379400-105380800	Active TSS	Brain Cingulate Gyrus	brain
19	chr12:105379400-105381000	Active TSS	Brain Inferior Temporal Lobe	brain
20	chr12:105379400-105381000	Active TSS	Rectal Smooth Muscle	rectum
21	chr12:105379400-105381200	Flanking Active TSS	Primary B cells from cord blood	blood
22	chr12:105379400-105381200	Active TSS	Pancreatic Islets	Pancreatic Islet
23	chr12:105379400-105381600	Active TSS	Colonic Mucosa	Colon
24	chr12:105379600-105380600	Active TSS	Primary hematopoietic stem cells short term culture	blood
25	chr12:105379600-105380600	Active TSS	Primary T killer memory cells from peripheral blood	blood
26	chr12:105379600-105380600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr12:105379600-105380600	Active TSS	Muscle Satellite Cultured Cells	--
28	chr12:105379600-105380600	Active TSS	Brain Hippocampus Middle	brain
29	chr12:105379600-105380600	Active TSS	Esophagus	oesophagus
30	chr12:105379600-105380600	Active TSS	Fetal Adrenal Gland	Adrenal Gland
31	chr12:105379600-105380600	Active TSS	Fetal Brain Female	brain
32	chr12:105379600-105380600	Active TSS	Fetal Heart	heart
33	chr12:105379600-105380600	Active TSS	Fetal Lung	lung
34	chr12:105379600-105380600	Active TSS	Skeletal Muscle Male	skeletal muscle
35	chr12:105379600-105380800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr12:105379600-105380800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr12:105379600-105380800	Active TSS	Brain Germinal Matrix	brain
38	chr12:105379600-105380800	Active TSS	Colon Smooth Muscle	Colon
39	chr12:105379600-105380800	Active TSS	NHLF	lung
40	chr12:105379600-105381000	Active TSS	HUES6 Cell Line	embryonic stem cell
41	chr12:105379600-105381000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr12:105379600-105381000	Active TSS	Fetal Intestine Large	intestine
43	chr12:105379600-105381000	Active TSS	Right Ventricle	heart
44	chr12:105379600-105381000	Active TSS	HSMMtube	muscle
45	chr12:105379600-105381000	Active TSS	K562	blood
46	chr12:105379600-105381000	Active TSS	NHDF-Ad	bronchial
47	chr12:105379600-105381200	Active TSS	HUES64 Cell Line	embryonic stem cell
48	chr12:105379600-105381400	Active TSS	ES-I3 Cell Line	embryonic stem cell
49	chr12:105379600-105381400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr12:105379600-105381400	Active TSS	HUES48 Cell Line	embryonic stem cell

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