Variant report

Variant	rs1533085
Chromosome Location	chr12:104963476-104963477
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:104902488..104905052-chr12:104962127..104964192,2	K562	blood:
2	chr12:104962294..104965284-chr12:104969742..104971271,2	K562	blood:

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10861238	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs11112109	0.89[CEU][hapmap];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs313319	0.95[JPT][hapmap];0.86[ASN][1000 genomes]
rs4964821	0.94[CEU][hapmap];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832504	chr12:104853331-105028245	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
2	nsv1035364	chr12:104948307-105003705	Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104947800-104964400	Weak transcription	Aorta	Aorta
2	chr12:104949600-104968800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr12:104950000-104978800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr12:104958400-104969000	Weak transcription	A549	lung
5	chr12:104958400-104972400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr12:104959200-104963800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr12:104959400-104964000	Enhancers	Primary hematopoietic stem cells	blood
8	chr12:104959400-104965400	Enhancers	Primary T cells fromperipheralblood	blood
9	chr12:104959400-104965600	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr12:104960000-104964000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr12:104960000-104964600	Weak transcription	Left Ventricle	heart
12	chr12:104960400-104964000	Weak transcription	Brain Substantia Nigra	brain
13	chr12:104960600-104970600	Weak transcription	Right Atrium	heart
14	chr12:104961200-104965400	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr12:104961200-104965400	Enhancers	Primary T killer memory cells from peripheral blood	blood
16	chr12:104961200-104965600	Enhancers	Primary T helper cells fromperipheralblood	blood
17	chr12:104961200-104965600	Enhancers	Fetal Thymus	thymus
18	chr12:104961400-104965400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr12:104961600-104963800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr12:104961600-104964400	Enhancers	Thymus	Thymus
21	chr12:104961800-104972800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr12:104962000-104963800	Enhancers	Primary B cells from peripheral blood	blood
23	chr12:104962200-104963800	Weak transcription	Brain Anterior Caudate	brain
24	chr12:104962200-104964400	Enhancers	K562	blood
25	chr12:104962200-104969400	Weak transcription	Pancreas	Pancrea
26	chr12:104962200-104969800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr12:104962400-104965600	Flanking Active TSS	GM12878-XiMat	blood
28	chr12:104962400-104971200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr12:104962600-104963600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
30	chr12:104962600-104963800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
31	chr12:104962800-104963600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
32	chr12:104962800-104964200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
33	chr12:104962800-104964400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
34	chr12:104963000-104964400	Flanking Active TSS	Primary B cells from cord blood	blood
35	chr12:104963000-104964400	Enhancers	Spleen	Spleen
36	chr12:104963000-104965600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
37	chr12:104963200-104964400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
38	chr12:104963200-104964400	Enhancers	Adipose Nuclei	Adipose
39	chr12:104963200-104964800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr12:104963400-104963600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
41	chr12:104963400-104963600	Enhancers	Brain Hippocampus Middle	brain
42	chr12:104963400-104963600	Flanking Active TSS	Duodenum Mucosa	Duodenum
43	chr12:104963400-104963800	Flanking Active TSS	Primary T cells from cord blood	blood
44	chr12:104963400-104963800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr12:104963400-104963800	Active TSS	Rectal Mucosa Donor 29	rectum
46	chr12:104963400-104964000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr12:104963400-104964000	Enhancers	Duodenum Smooth Muscle	Duodenum
48	chr12:104963400-104964000	Enhancers	Fetal Muscle Leg	muscle
49	chr12:104963400-104964000	Flanking Active TSS	Dnd41	blood
50	chr12:104963400-104964200	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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