Variant report

Variant	rs34083615
Chromosome Location	chr12:123931579-123931580
allele	-/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:123875273..123877683-chr12:123930789..123932749,2	MCF-7	breast:
2	chr12:123930599..123932648-chr12:123941951..123944505,3	MCF-7	breast:
3	chr12:123928730..123932409-chr12:123939432..123944416,8	MCF-7	breast:
4	chr12:123881385..123883627-chr12:123929394..123932361,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000183955	Chromatin interaction
ENSG00000184209	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs55882821	1.00[AMR][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	nsv1038841	chr12:123757305-124087671	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	nsv541622	chr12:123757305-124087671	Enhancers Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	nsv1035223	chr12:123795559-123991706	Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
4	esv1822004	chr12:123919287-124013451	Strong transcription Genic enhancers Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:123926200-123932800	Enhancers	Primary B cells from peripheral blood	blood
2	chr12:123926200-123933000	Enhancers	Primary monocytes fromperipheralblood	blood
3	chr12:123929200-123931800	Enhancers	Primary B cells from cord blood	blood
4	chr12:123929600-123931800	Weak transcription	Lung	lung
5	chr12:123929600-123934000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr12:123929800-123932600	Enhancers	Primary T cells fromperipheralblood	blood
7	chr12:123930000-123931800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr12:123930000-123932400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr12:123930400-123933800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr12:123930800-123931600	Weak transcription	HSMMtube	muscle
11	chr12:123930800-123932400	Enhancers	Primary neutrophils fromperipheralblood	blood
12	chr12:123930800-123932400	Weak transcription	Brain Substantia Nigra	brain
13	chr12:123930800-123932600	Weak transcription	Fetal Thymus	thymus
14	chr12:123930800-123933800	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr12:123930800-123935600	Weak transcription	Fetal Intestine Small	intestine
16	chr12:123931000-123932200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr12:123931000-123932200	Enhancers	Monocytes-CD14+_RO01746	blood
18	chr12:123931000-123932400	Weak transcription	Primary hematopoietic stem cells	blood
19	chr12:123931000-123932600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr12:123931000-123933000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr12:123931000-123933000	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr12:123931000-123933200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr12:123931000-123933800	Weak transcription	NHDF-Ad	bronchial
24	chr12:123931200-123932200	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr12:123931200-123932200	Weak transcription	Primary T helper cells fromperipheralblood	blood
26	chr12:123931200-123932200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr12:123931200-123932200	Weak transcription	A549	lung
28	chr12:123931200-123932200	Weak transcription	HepG2	liver
29	chr12:123931200-123932400	Weak transcription	Primary T cells from cord blood	blood
30	chr12:123931200-123932400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr12:123931200-123932400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr12:123931200-123932400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr12:123931200-123932400	Weak transcription	Brain Cingulate Gyrus	brain
34	chr12:123931200-123932400	Weak transcription	Brain Hippocampus Middle	brain
35	chr12:123931200-123933000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr12:123931200-123933000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr12:123931200-123933000	Weak transcription	GM12878-XiMat	blood
38	chr12:123931200-123933000	Weak transcription	Hela-S3	cervix
39	chr12:123931200-123933400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr12:123931200-123933800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr12:123931200-123933800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr12:123931200-123933800	Weak transcription	Stomach Mucosa	stomach
43	chr12:123931200-123933800	Weak transcription	Osteobl	bone
44	chr12:123931200-123934000	Weak transcription	Spleen	Spleen
45	chr12:123931400-123932400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr12:123931400-123932400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr12:123931400-123932400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr12:123931400-123932600	Weak transcription	Placenta	Placenta
49	chr12:123931400-123933600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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