Variant report

Variant	rs903248
Chromosome Location	chr12:105105527-105105528
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	chr12:105101023..105102859-chr12:105102947..105105889,2	MCF-7	breast:

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

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs10161421	0.86[CHD][hapmap]
rs2029737	0.82[LWK][hapmap];0.96[YRI][hapmap]

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	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
4	nsv560051	chr12:105092213-105110554	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105080400-105131800	Weak transcription	NHEK	skin
2	chr12:105089000-105105600	Weak transcription	Esophagus	oesophagus
3	chr12:105090200-105113400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
4	chr12:105090400-105113400	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr12:105094200-105113600	Weak transcription	GM12878-XiMat	blood
6	chr12:105097600-105105600	Weak transcription	Gastric	stomach
7	chr12:105097600-105105600	Weak transcription	K562	blood
8	chr12:105097600-105105800	Weak transcription	Thymus	Thymus
9	chr12:105097800-105106400	Weak transcription	Primary B cells from peripheral blood	blood
10	chr12:105097800-105109600	Weak transcription	Primary T cells from cord blood	blood
11	chr12:105098000-105109400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr12:105098200-105107400	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr12:105098400-105115800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr12:105098400-105116200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr12:105098800-105106000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr12:105100600-105107000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr12:105100600-105107000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr12:105100600-105107400	Enhancers	Cortex derived primary cultured neurospheres	brain
19	chr12:105101000-105109200	Weak transcription	Fetal Thymus	thymus
20	chr12:105101200-105105600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr12:105101800-105107200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr12:105102400-105107000	Enhancers	Brain Germinal Matrix	brain
23	chr12:105102800-105109400	Weak transcription	Primary hematopoietic stem cells	blood
24	chr12:105103000-105114200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr12:105103200-105105800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr12:105103200-105106000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr12:105103200-105107000	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr12:105103200-105107400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr12:105103400-105106000	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr12:105103400-105106200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr12:105103400-105106200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr12:105103400-105107400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
33	chr12:105103600-105112200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr12:105103800-105106200	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr12:105103800-105106200	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr12:105103800-105106200	Enhancers	HSMMtube	muscle
37	chr12:105103800-105109400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr12:105103800-105109400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr12:105104000-105106600	Enhancers	Fetal Muscle Leg	muscle
40	chr12:105104000-105106800	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr12:105104000-105107000	Enhancers	Fetal Lung	lung
42	chr12:105104000-105107200	Enhancers	Fetal Stomach	stomach
43	chr12:105104200-105105800	Enhancers	Adipose Nuclei	Adipose
44	chr12:105104200-105106000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr12:105104200-105106000	Enhancers	Colon Smooth Muscle	Colon
46	chr12:105104200-105106200	Enhancers	Fetal Brain Male	brain
47	chr12:105104200-105106400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr12:105104200-105107000	Enhancers	Brain Hippocampus Middle	brain
49	chr12:105104200-105107200	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr12:105104200-105107200	Enhancers	Brain Anterior Caudate	brain

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