Variant report

Variant	rs312149
Chromosome Location	chr12:105116929-105116930
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:105114827..105117713-chr12:105150243..105152886,2	K562	blood:
2	chr12:105106368..105108047-chr12:105116820..105118467,2	K562	blood:
3	chr12:105113967..105116060-chr12:105116294..105118567,3	K562	blood:
4	chr12:105110301..105112543-chr12:105115693..105118210,2	K562	blood:

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

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

rs_ID	r²[population]
rs182587	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs312150	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs312151	0.96[CEU][hapmap];1.00[CHB][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs312154	0.82[EUR][1000 genomes]
rs312155	0.82[EUR][1000 genomes]
rs312157	0.87[CEU][hapmap];1.00[CHB][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs312158	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs312160	0.96[CEU][hapmap];1.00[CHB][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs312161	0.91[CEU][hapmap];1.00[CHB][hapmap];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs312162	0.96[CEU][hapmap];1.00[CHB][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs312163	0.81[EUR][1000 genomes]
rs312165	0.81[CEU][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:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:105080400-105131800	Weak transcription	NHEK	skin
2	chr12:105106600-105120600	Weak transcription	Pancreas	Pancrea
3	chr12:105108800-105117600	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr12:105110600-105121000	Weak transcription	Gastric	stomach
5	chr12:105111200-105117600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr12:105113000-105119800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr12:105113200-105118600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr12:105113600-105117000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr12:105113600-105117000	Enhancers	HSMMtube	muscle
10	chr12:105113800-105117400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr12:105114000-105117000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr12:105114000-105118400	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr12:105114200-105119200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr12:105114400-105117000	Enhancers	HUES48 Cell Line	embryonic stem cell
15	chr12:105114400-105125800	Weak transcription	Fetal Brain Female	brain
16	chr12:105114600-105117600	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr12:105114800-105117200	Enhancers	Fetal Muscle Trunk	muscle
18	chr12:105114800-105117600	Enhancers	Fetal Muscle Leg	muscle
19	chr12:105115000-105117000	Enhancers	HSMM	muscle
20	chr12:105115000-105117600	Enhancers	Primary B cells from peripheral blood	blood
21	chr12:105115000-105118200	Enhancers	K562	blood
22	chr12:105115000-105118400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr12:105115000-105119800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr12:105115000-105129800	Weak transcription	Fetal Lung	lung
25	chr12:105115200-105117000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
26	chr12:105115200-105117000	Enhancers	Primary T killer memory cells from peripheral blood	blood
27	chr12:105115200-105117200	Enhancers	Primary B cells from cord blood	blood
28	chr12:105115200-105117200	Enhancers	Primary T helper cells fromperipheralblood	blood
29	chr12:105115200-105117400	Enhancers	Fetal Thymus	thymus
30	chr12:105115200-105117600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
31	chr12:105115200-105118400	Enhancers	Primary hematopoietic stem cells	blood
32	chr12:105115200-105119800	Enhancers	Primary T cells fromperipheralblood	blood
33	chr12:105115200-105121200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr12:105115200-105122400	Weak transcription	Right Ventricle	heart
35	chr12:105115200-105124400	Weak transcription	Spleen	Spleen
36	chr12:105115200-105124800	Weak transcription	Brain Cingulate Gyrus	brain
37	chr12:105115200-105129600	Weak transcription	Placenta	Placenta
38	chr12:105115400-105117000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
39	chr12:105115400-105117000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
40	chr12:105115400-105117000	Enhancers	Duodenum Mucosa	Duodenum
41	chr12:105115400-105117200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
42	chr12:105115400-105117600	Enhancers	Primary T helper cells PMA-I stimulated	--
43	chr12:105115400-105117600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr12:105115400-105117600	Enhancers	Thymus	Thymus
45	chr12:105115400-105117800	Enhancers	GM12878-XiMat	blood
46	chr12:105115400-105118400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr12:105115400-105119000	Weak transcription	NHLF	lung
48	chr12:105115400-105119400	Weak transcription	Monocytes-CD14+_RO01746	blood
49	chr12:105115400-105128800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr12:105115600-105117000	Genic enhancers	Dnd41	blood

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