Variant report

Variant	rs41291963
Chromosome Location	chr12:48527977-48527978
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:48503303..48504914-chr12:48527767..48530328,2	MCF-7	breast:
2	chr12:48523386..48526206-chr12:48526341..48529296,3	K562	blood:
3	chr12:48527054..48529468-chr12:48538732..48540822,3	K562	blood:
4	chr12:48525679..48529309-chr12:48532044..48535896,3	K562	blood:
5	chr12:48527797..48530620-chr12:48531013..48533171,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000152556	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10128967	1.00[ASN][1000 genomes]
rs10128968	1.00[ASN][1000 genomes]
rs10506279	1.00[ASN][1000 genomes]
rs11829791	0.87[EUR][1000 genomes]
rs11831232	0.87[EUR][1000 genomes]
rs11832378	0.87[EUR][1000 genomes]
rs11835509	0.87[EUR][1000 genomes]
rs11835938	1.00[ASN][1000 genomes]
rs12301562	1.00[ASN][1000 genomes]
rs12316682	1.00[ASN][1000 genomes]
rs2450995	1.00[ASN][1000 genomes]
rs34093317	0.87[EUR][1000 genomes]
rs34659977	0.87[EUR][1000 genomes]
rs41291967	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55820056	1.00[ASN][1000 genomes]
rs57956448	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs58317398	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60209369	1.00[ASN][1000 genomes]
rs60679254	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73304917	1.00[ASN][1000 genomes]
rs74089110	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74089125	0.87[EUR][1000 genomes]
rs74089159	1.00[ASN][1000 genomes]
rs74089163	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758307	chr12:48429702-48825499	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	esv2759898	chr12:48429702-48825499	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv508673	chr12:48489786-48567138	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:48514000-48536600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr12:48514000-48537200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr12:48515600-48535600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
4	chr12:48515800-48535600	Strong transcription	HUES48 Cell Line	embryonic stem cell
5	chr12:48515800-48545600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr12:48516200-48529600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
7	chr12:48516200-48545400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr12:48516200-48547200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr12:48516400-48529400	Strong transcription	Ovary	ovary
10	chr12:48516400-48529600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr12:48516400-48535600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr12:48516400-48535800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
13	chr12:48516400-48542000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
14	chr12:48516400-48545000	Strong transcription	GM12878-XiMat	blood
15	chr12:48516400-48545400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr12:48516400-48545800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr12:48516400-48547200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr12:48516400-48547200	Strong transcription	Stomach Smooth Muscle	stomach
19	chr12:48516400-48547800	Strong transcription	Fetal Stomach	stomach
20	chr12:48516600-48536600	Strong transcription	HUES64 Cell Line	embryonic stem cell
21	chr12:48516600-48543200	Weak transcription	Stomach Mucosa	stomach
22	chr12:48516600-48545400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr12:48516600-48545600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr12:48516800-48529400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr12:48516800-48530400	Strong transcription	Osteobl	bone
26	chr12:48516800-48547400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr12:48517200-48529600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr12:48517600-48547400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr12:48518200-48529800	Strong transcription	H1 Cell Line	embryonic stem cell
30	chr12:48518600-48547600	Strong transcription	Cortex derived primary cultured neurospheres	brain
31	chr12:48519600-48547200	Strong transcription	Primary B cells from peripheral blood	blood
32	chr12:48519800-48529800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr12:48520000-48529400	Strong transcription	NHEK	skin
34	chr12:48520000-48545600	Strong transcription	Hela-S3	cervix
35	chr12:48520600-48529400	Strong transcription	Fetal Muscle Trunk	muscle
36	chr12:48520600-48529600	Strong transcription	HSMM	muscle
37	chr12:48520600-48529800	Strong transcription	Brain Germinal Matrix	brain
38	chr12:48520800-48547400	Strong transcription	Fetal Brain Female	brain
39	chr12:48521000-48529400	Strong transcription	Brain Anterior Caudate	brain
40	chr12:48521400-48529600	Strong transcription	Rectal Mucosa Donor 29	rectum
41	chr12:48522000-48529400	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr12:48522400-48534400	Weak transcription	NHDF-Ad	bronchial
43	chr12:48522600-48529400	Strong transcription	Aorta	Aorta
44	chr12:48522600-48529600	Strong transcription	Rectal Mucosa Donor 31	rectum
45	chr12:48522600-48532800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr12:48522800-48530200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr12:48523000-48529400	Strong transcription	Fetal Lung	lung
48	chr12:48523200-48529200	Strong transcription	Primary T cells from cord blood	blood
49	chr12:48523200-48529200	Strong transcription	Colon Smooth Muscle	Colon
50	chr12:48523200-48529200	Strong transcription	Rectal Smooth Muscle	rectum

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