Variant report

Variant	rs7297460
Chromosome Location	chr12:105107330-105107331
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	chr12:105106368..105108047-chr12:105116820..105118467,2	K562	blood:
2	chr12:105094562..105097147-chr12:105106681..105108235,2	MCF-7	breast:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10861272	0.90[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.88[LWK][hapmap];0.82[MKK][hapmap];0.83[YRI][hapmap];0.95[ASN][1000 genomes]
rs2029737	0.90[CHB][hapmap];0.96[CHD][hapmap];0.86[ASN][1000 genomes]
rs4964831	0.90[CHB][hapmap];1.00[CHD][hapmap];0.85[ASN][1000 genomes]
rs4964832	0.90[CHB][hapmap];0.86[ASN][1000 genomes]
rs7297232	0.94[ASN][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	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:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105080400-105131800	Weak transcription	NHEK	skin
2	chr12:105090200-105113400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr12:105090400-105113400	Weak transcription	Primary neutrophils fromperipheralblood	blood
4	chr12:105094200-105113600	Weak transcription	GM12878-XiMat	blood
5	chr12:105097800-105109600	Weak transcription	Primary T cells from cord blood	blood
6	chr12:105098000-105109400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr12:105098200-105107400	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr12:105098400-105115800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr12:105098400-105116200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr12:105100600-105107400	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr12:105101000-105109200	Weak transcription	Fetal Thymus	thymus
12	chr12:105102800-105109400	Weak transcription	Primary hematopoietic stem cells	blood
13	chr12:105103000-105114200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr12:105103200-105107400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr12:105103400-105107400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
16	chr12:105103600-105112200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr12:105103800-105109400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr12:105103800-105109400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr12:105104200-105113600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr12:105104600-105109400	Weak transcription	Brain Cingulate Gyrus	brain
21	chr12:105104800-105116200	Weak transcription	A549	lung
22	chr12:105105000-105107400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr12:105105000-105107800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr12:105105000-105109200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr12:105105200-105108400	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr12:105105200-105112000	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr12:105105200-105113800	Weak transcription	HSMM	muscle
28	chr12:105105400-105108400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr12:105105600-105107600	Genic enhancers	Dnd41	blood
30	chr12:105105800-105107400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr12:105105800-105107800	Strong transcription	Primary monocytes fromperipheralblood	blood
32	chr12:105105800-105108200	Strong transcription	Thymus	Thymus
33	chr12:105105800-105108600	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr12:105105800-105112400	Weak transcription	Adipose Nuclei	Adipose
35	chr12:105105800-105114000	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr12:105106000-105107600	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr12:105106000-105107600	Weak transcription	Lung	lung
38	chr12:105106000-105108000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr12:105106000-105109200	Weak transcription	Colon Smooth Muscle	Colon
40	chr12:105106000-105109200	Weak transcription	Right Ventricle	heart
41	chr12:105106000-105112200	Weak transcription	Brain Substantia Nigra	brain
42	chr12:105106200-105107400	Weak transcription	Gastric	stomach
43	chr12:105106200-105107600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
44	chr12:105106200-105107600	Enhancers	HUES6 Cell Line	embryonic stem cell
45	chr12:105106200-105108000	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr12:105106200-105108000	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr12:105106200-105109000	Weak transcription	Stomach Smooth Muscle	stomach
48	chr12:105106200-105112000	Weak transcription	HSMMtube	muscle
49	chr12:105106200-105112200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr12:105106200-105112200	Weak transcription	Rectal Smooth Muscle	rectum

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