Variant report

Variant	rs12316883
Chromosome Location	chr12:105049940-105049941
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:105046397..105050237-chr12:105053960..105056196,3	MCF-7	breast:
2	chr12:105043561..105045701-chr12:105049277..105051799,2	MCF-7	breast:
3	chr12:105047156..105050168-chr12:105050213..105054131,4	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10450734	1.00[ASW][hapmap]
rs11833657	1.00[ASW][hapmap]
rs11835991	1.00[ASW][hapmap]
rs12297080	1.00[ASW][hapmap]
rs12300833	1.00[ASN][1000 genomes]
rs7298251	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7977435	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:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105033000-105050200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr12:105033400-105050200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr12:105033600-105050200	Weak transcription	Right Atrium	heart
4	chr12:105035400-105050200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr12:105035800-105054000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr12:105037600-105050200	Weak transcription	Osteobl	bone
7	chr12:105038000-105062000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr12:105038400-105050400	Weak transcription	Stomach Smooth Muscle	stomach
9	chr12:105038400-105051600	Weak transcription	Aorta	Aorta
10	chr12:105038400-105053000	Weak transcription	NHEK	skin
11	chr12:105038400-105055400	Weak transcription	Gastric	stomach
12	chr12:105038400-105061200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr12:105038400-105062600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr12:105038600-105050400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr12:105038600-105057600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr12:105038600-105061000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr12:105038600-105061400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr12:105038600-105062400	Weak transcription	HMEC	breast
19	chr12:105038600-105062800	Weak transcription	Esophagus	oesophagus
20	chr12:105038600-105063200	Weak transcription	Primary T cells from cord blood	blood
21	chr12:105038800-105051000	Weak transcription	GM12878-XiMat	blood
22	chr12:105039200-105062200	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr12:105041600-105054000	Strong transcription	Dnd41	blood
24	chr12:105043000-105054000	Weak transcription	Brain Angular Gyrus	brain
25	chr12:105044200-105050200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr12:105044200-105050200	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr12:105044200-105050400	Weak transcription	Brain Hippocampus Middle	brain
28	chr12:105044600-105061600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr12:105046000-105050600	Weak transcription	Adipose Nuclei	Adipose
30	chr12:105046000-105054000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr12:105046000-105058200	Weak transcription	Fetal Brain Female	brain
32	chr12:105046200-105050400	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr12:105046200-105061200	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr12:105046400-105050200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr12:105046400-105055800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr12:105046400-105061000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr12:105046600-105050200	Weak transcription	Lung	lung
38	chr12:105046800-105050200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr12:105046800-105050600	Weak transcription	Brain Anterior Caudate	brain
40	chr12:105046800-105054000	Weak transcription	Brain Cingulate Gyrus	brain
41	chr12:105046800-105054400	Weak transcription	Primary B cells from cord blood	blood
42	chr12:105046800-105060600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
43	chr12:105047200-105050400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr12:105047400-105051000	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr12:105047600-105060600	Weak transcription	K562	blood
46	chr12:105047800-105051400	Enhancers	Cortex derived primary cultured neurospheres	brain
47	chr12:105047800-105051800	Enhancers	ES-I3 Cell Line	embryonic stem cell
48	chr12:105047800-105052000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
49	chr12:105047800-105052000	Enhancers	Placenta	Placenta
50	chr12:105048000-105050200	Weak transcription	Spleen	Spleen

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