Variant report

Variant	rs73383498
Chromosome Location	chr12:105392599-105392600
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:105379990..105383317-chr12:105392457..105395172,3	MCF-7	breast:
2	chr12:105384826..105387201-chr12:105391835..105393587,2	K562	blood:
3	chr12:105392063..105394759-chr12:105462525..105464694,2	K562	blood:
4	chr12:105379691..105382014-chr12:105391921..105394682,4	MCF-7	breast:
5	chr12:105391022..105393004-chr12:105396428..105398011,2	MCF-7	breast:
6	chr12:105391750..105393633-chr12:105396940..105398737,2	K562	blood:

Variant related genes	Relation type
ENSG00000151131	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	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12579129	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12579441	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12579790	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12580237	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12580271	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12580282	1.00[EUR][1000 genomes]
rs12580384	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12581352	0.82[ASN][1000 genomes]
rs12582090	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12582132	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17036606	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs35938519	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61060789	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7135496	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73383478	1.00[EUR][1000 genomes]
rs73383483	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73383487	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73383495	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs73387230	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[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	chr12:105381800-105392800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:105381800-105392800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr12:105381800-105393600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr12:105381800-105398000	Strong transcription	A549	lung
5	chr12:105381800-105407400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr12:105381800-105411400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr12:105382000-105394600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr12:105382000-105397800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr12:105382000-105401400	Strong transcription	HUES6 Cell Line	embryonic stem cell
10	chr12:105382000-105401400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
11	chr12:105382200-105392800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
12	chr12:105382200-105395000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr12:105382200-105395200	Strong transcription	Primary B cells from cord blood	blood
14	chr12:105382200-105395600	Strong transcription	H1 Cell Line	embryonic stem cell
15	chr12:105382200-105401400	Strong transcription	HUES48 Cell Line	embryonic stem cell
16	chr12:105382200-105402000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
17	chr12:105382200-105402000	Strong transcription	Cortex derived primary cultured neurospheres	brain
18	chr12:105382200-105402000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr12:105382200-105402600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr12:105382400-105401200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr12:105382400-105401400	Strong transcription	Liver	Liver
22	chr12:105382600-105397800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
23	chr12:105382800-105394600	Strong transcription	Duodenum Smooth Muscle	Duodenum
24	chr12:105382800-105394800	Strong transcription	Primary T cells from cord blood	blood
25	chr12:105382800-105398000	Strong transcription	Adipose Nuclei	Adipose
26	chr12:105383000-105402000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr12:105383200-105392800	Strong transcription	Rectal Mucosa Donor 29	rectum
28	chr12:105383200-105396400	Strong transcription	Fetal Intestine Large	intestine
29	chr12:105383200-105398000	Strong transcription	Primary T helper cells PMA-I stimulated	--
30	chr12:105383400-105393200	Strong transcription	Dnd41	blood
31	chr12:105383400-105394200	Strong transcription	H9 Cell Line	embryonic stem cell
32	chr12:105383400-105399000	Strong transcription	Primary B cells from peripheral blood	blood
33	chr12:105383600-105392600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr12:105383600-105394800	Strong transcription	HUES64 Cell Line	embryonic stem cell
35	chr12:105383600-105401600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr12:105383800-105393800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr12:105383800-105397800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr12:105383800-105401200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr12:105384000-105394200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr12:105384000-105395000	Strong transcription	Fetal Muscle Trunk	muscle
41	chr12:105384000-105402000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr12:105384200-105394400	Strong transcription	Stomach Smooth Muscle	stomach
43	chr12:105384400-105392800	Strong transcription	Fetal Brain Female	brain
44	chr12:105384400-105394800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr12:105384800-105400000	Strong transcription	Brain Anterior Caudate	brain
46	chr12:105385000-105393800	Strong transcription	Placenta	Placenta
47	chr12:105385200-105394200	Strong transcription	Brain Hippocampus Middle	brain
48	chr12:105385200-105395000	Strong transcription	GM12878-XiMat	blood
49	chr12:105385600-105393800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr12:105385600-105394400	Strong transcription	Brain Inferior Temporal Lobe	brain

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