Variant report

Variant	rs2442439
Chromosome Location	chr12:122360952-122360953
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:122356337..122361793-chr12:122458841..122462522,5	MCF-7	breast:
2	chr12:122277581..122279588-chr12:122359904..122362557,2	K562	blood:
3	chr12:122232615..122235866-chr12:122360663..122363500,3	K562	blood:

Variant related genes	Relation type
ENSG00000272849	Chromatin interaction
ENSG00000212694	Chromatin interaction
ENSG00000110987	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs1168658	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1168661	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1169081	0.81[EUR][1000 genomes]
rs1177588	0.80[ASN][1000 genomes]
rs12578258	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12579389	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12579730	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1375653	0.80[ASN][1000 genomes]
rs1375654	0.80[ASN][1000 genomes]
rs1375655	0.80[ASN][1000 genomes]
rs14259	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1630699	0.80[ASN][1000 genomes]
rs1667586	0.80[ASN][1000 genomes]
rs1678952	0.80[ASN][1000 genomes]
rs1678953	0.80[ASN][1000 genomes]
rs1720030	0.80[ASN][1000 genomes]
rs1720066	0.99[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1720068	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17852561	0.85[EUR][1000 genomes]
rs2272135	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2309275	0.82[EUR][1000 genomes]
rs2688409	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34506529	0.81[AMR][1000 genomes]
rs34930953	0.81[AMR][1000 genomes]
rs35252940	0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs3825172	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4069666	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4760108	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs482421	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs483416	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs508395	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55826938	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56177852	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs58379261	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs59517025	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs59972569	0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs686220	0.80[ASN][1000 genomes]
rs7309105	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7313748	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs830115	0.80[EUR][1000 genomes]
rs876934	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[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	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
2	nsv916686	chr12:122240149-122714056	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
3	nsv899568	chr12:122254713-122456524	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	esv34001	chr12:122298737-122521637	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122354200-122363000	Weak transcription	Small Intestine	intestine
2	chr12:122355600-122364800	Weak transcription	K562	blood
3	chr12:122356000-122362600	Weak transcription	Hela-S3	cervix
4	chr12:122356200-122361600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr12:122356400-122361800	Weak transcription	HepG2	liver
6	chr12:122356400-122362600	Weak transcription	Ovary	ovary
7	chr12:122356400-122362600	Weak transcription	HMEC	breast
8	chr12:122356400-122363000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr12:122356600-122362600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr12:122356600-122362800	Weak transcription	HSMMtube	muscle
11	chr12:122356800-122361200	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr12:122356800-122361600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr12:122356800-122361600	Weak transcription	A549	lung
14	chr12:122356800-122362600	Weak transcription	Fetal Heart	heart
15	chr12:122356800-122362800	Weak transcription	Left Ventricle	heart
16	chr12:122356800-122362800	Weak transcription	HSMM	muscle
17	chr12:122356800-122363000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr12:122357000-122361400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr12:122357000-122361400	Weak transcription	GM12878-XiMat	blood
20	chr12:122357000-122361600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr12:122357000-122361600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr12:122357000-122361600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr12:122357000-122361600	Weak transcription	Adipose Nuclei	Adipose
24	chr12:122357000-122361600	Weak transcription	Fetal Muscle Leg	muscle
25	chr12:122357000-122361600	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr12:122357000-122361800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr12:122357000-122361800	Weak transcription	Placenta	Placenta
28	chr12:122357000-122362000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr12:122357000-122362000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr12:122357000-122362000	Weak transcription	Fetal Muscle Trunk	muscle
31	chr12:122357000-122362600	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr12:122357000-122362600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr12:122357000-122362600	Weak transcription	Colon Smooth Muscle	Colon
34	chr12:122357000-122362600	Weak transcription	Duodenum Mucosa	Duodenum
35	chr12:122357000-122362600	Weak transcription	Fetal Brain Male	brain
36	chr12:122357000-122362600	Weak transcription	Fetal Brain Female	brain
37	chr12:122357000-122362600	Weak transcription	Fetal Intestine Large	intestine
38	chr12:122357000-122362600	Weak transcription	Fetal Intestine Small	intestine
39	chr12:122357000-122362600	Weak transcription	Fetal Stomach	stomach
40	chr12:122357000-122362600	Weak transcription	Rectal Smooth Muscle	rectum
41	chr12:122357000-122362600	Weak transcription	Right Ventricle	heart
42	chr12:122357000-122362600	Weak transcription	Stomach Smooth Muscle	stomach
43	chr12:122357000-122362600	Weak transcription	Spleen	Spleen
44	chr12:122357000-122362600	Weak transcription	NH-A	brain
45	chr12:122357000-122362800	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr12:122357000-122362800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr12:122357000-122362800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr12:122357000-122362800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr12:122357000-122362800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr12:122357000-122362800	Weak transcription	Cortex derived primary cultured neurospheres	brain

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