Variant report

Variant	rs74098400
Chromosome Location	chr12:64960383-64960384
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:64959032..64961860-chr12:64963161..64965792,2	K562	blood:
2	chr12:64950433..64954312-chr12:64959664..64962959,3	MCF-7	breast:
3	chr12:64948238..64950384-chr12:64959601..64961940,2	MCF-7	breast:
4	chr12:64955263..64957800-chr12:64960025..64962261,2	MCF-7	breast:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11175461	1.00[AMR][1000 genomes]
rs12312169	1.00[AMR][1000 genomes]
rs56015728	1.00[AMR][1000 genomes]
rs58090127	1.00[AMR][1000 genomes]
rs58914823	1.00[AMR][1000 genomes]
rs60715684	1.00[AMR][1000 genomes]
rs61442177	1.00[AMR][1000 genomes]
rs74100222	1.00[AMR][1000 genomes]
rs74100224	1.00[AMR][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	nsv832443	chr12:64878856-65057265	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription 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	27 gene(s)	inside rSNPs	diseases
2	nsv1048199	chr12:64951666-65021700	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
3	nsv541512	chr12:64951666-65021700	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:64951400-64960400	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr12:64955000-64961000	Weak transcription	Lung	lung
3	chr12:64955400-64960400	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr12:64955400-64963000	Weak transcription	Brain Anterior Caudate	brain
5	chr12:64955600-64960800	Weak transcription	Hela-S3	cervix
6	chr12:64955600-64960800	Weak transcription	Monocytes-CD14+_RO01746	blood
7	chr12:64955600-64961600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr12:64955800-64960600	Weak transcription	Primary monocytes fromperipheralblood	blood
9	chr12:64958200-64961000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr12:64959000-64961800	Enhancers	Breast Myoepithelial Primary Cells	Breast
11	chr12:64959000-64962600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr12:64959200-64963400	Enhancers	Placenta	Placenta
13	chr12:64959200-64966000	Enhancers	Fetal Muscle Leg	muscle
14	chr12:64959400-64961600	Enhancers	HSMMtube	muscle
15	chr12:64959400-64961800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr12:64959600-64961400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr12:64959800-64960600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr12:64960000-64960400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr12:64960000-64960600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr12:64960000-64961000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr12:64960000-64961000	Enhancers	Ovary	ovary
22	chr12:64960000-64961600	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr12:64960000-64964800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr12:64960200-64960600	Weak transcription	Fetal Muscle Trunk	muscle
25	chr12:64960200-64960600	Enhancers	Placenta Amnion	Placenta Amnion
26	chr12:64960200-64960600	Enhancers	NHDF-Ad	bronchial
27	chr12:64960200-64960600	Bivalent Enhancer	Osteobl	bone
28	chr12:64960200-64960800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr12:64960200-64960800	Enhancers	HepG2	liver
30	chr12:64960200-64961000	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr12:64960200-64961200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr12:64960200-64961200	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr12:64960200-64961200	Enhancers	HSMM	muscle
34	chr12:64960200-64961400	Enhancers	HUES64 Cell Line	embryonic stem cell
35	chr12:64960200-64961400	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr12:64960200-64961600	Enhancers	H1 Cell Line	embryonic stem cell
37	chr12:64960200-64961600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr12:64960200-64961600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr12:64960200-64961600	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr12:64960200-64961600	Enhancers	iPS-18 Cell Line	embryonic stem cell
41	chr12:64960200-64961600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr12:64960200-64963400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
43	chr12:64960200-64963400	Enhancers	Spleen	Spleen

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