Variant report

Variant	rs1965077
Chromosome Location	chr12:105050287-105050288
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:105043561..105045701-chr12:105049277..105051799,2	MCF-7	breast:
2	chr12:105047156..105050168-chr12:105050213..105054131,4	K562	blood:

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12298099	0.82[JPT][hapmap]
rs12810277	0.82[JPT][hapmap]
rs1553840	1.00[ASW][hapmap]
rs1704904	1.00[ASW][hapmap]
rs1795874	1.00[ASW][hapmap]
rs2559640	0.82[JPT][hapmap]
rs2665749	1.00[ASW][hapmap]
rs55743047	0.97[ASN][1000 genomes]
rs56205738	0.94[ASN][1000 genomes]
rs7299035	0.82[JPT][hapmap]
rs7961656	0.82[JPT][hapmap]
rs879388	1.00[ASW][hapmap]

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	nsv899495	chr12:104990469-105527011	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1050695	chr12:105000981-105125161	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
3	nsv541589	chr12:105000981-105125161	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105035800-105054000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr12:105038000-105062000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr12:105038400-105050400	Weak transcription	Stomach Smooth Muscle	stomach
4	chr12:105038400-105051600	Weak transcription	Aorta	Aorta
5	chr12:105038400-105053000	Weak transcription	NHEK	skin
6	chr12:105038400-105055400	Weak transcription	Gastric	stomach
7	chr12:105038400-105061200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr12:105038400-105062600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr12:105038600-105050400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr12:105038600-105057600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr12:105038600-105061000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr12:105038600-105061400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr12:105038600-105062400	Weak transcription	HMEC	breast
14	chr12:105038600-105062800	Weak transcription	Esophagus	oesophagus
15	chr12:105038600-105063200	Weak transcription	Primary T cells from cord blood	blood
16	chr12:105038800-105051000	Weak transcription	GM12878-XiMat	blood
17	chr12:105039200-105062200	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr12:105041600-105054000	Strong transcription	Dnd41	blood
19	chr12:105043000-105054000	Weak transcription	Brain Angular Gyrus	brain
20	chr12:105044200-105050400	Weak transcription	Brain Hippocampus Middle	brain
21	chr12:105044600-105061600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr12:105046000-105050600	Weak transcription	Adipose Nuclei	Adipose
23	chr12:105046000-105054000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr12:105046000-105058200	Weak transcription	Fetal Brain Female	brain
25	chr12:105046200-105050400	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr12:105046200-105061200	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr12:105046400-105055800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr12:105046400-105061000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr12:105046800-105050600	Weak transcription	Brain Anterior Caudate	brain
30	chr12:105046800-105054000	Weak transcription	Brain Cingulate Gyrus	brain
31	chr12:105046800-105054400	Weak transcription	Primary B cells from cord blood	blood
32	chr12:105046800-105060600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
33	chr12:105047200-105050400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr12:105047400-105051000	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr12:105047600-105060600	Weak transcription	K562	blood
36	chr12:105047800-105051400	Enhancers	Cortex derived primary cultured neurospheres	brain
37	chr12:105047800-105051800	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr12:105047800-105052000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr12:105047800-105052000	Enhancers	Placenta	Placenta
40	chr12:105048000-105053800	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr12:105048000-105062400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr12:105048400-105052200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr12:105048400-105052200	Enhancers	HUES6 Cell Line	embryonic stem cell
44	chr12:105048600-105051400	Enhancers	iPS-18 Cell Line	embryonic stem cell
45	chr12:105048600-105051800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr12:105048600-105051800	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr12:105048600-105054000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr12:105048600-105058200	Weak transcription	Thymus	Thymus
49	chr12:105048800-105051600	Weak transcription	A549	lung
50	chr12:105049000-105050400	Weak transcription	Fetal Brain Male	brain

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