Variant report

Variant	rs4074773
Chromosome Location	chr12:46919181-46919182
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:46917446..46920289-chr12:46926732..46928567,2	K562	blood:
2	chr12:46859540..46862018-chr12:46919142..46921108,2	K562	blood:
3	chr12:46912402..46915807-chr12:46917000..46920176,3	MCF-7	breast:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10785630	0.88[ASW][hapmap];0.96[CEU][hapmap];0.82[CHB][hapmap];0.90[CHD][hapmap];0.93[GIH][hapmap];0.88[LWK][hapmap];0.95[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs11183468	0.88[CEU][hapmap]
rs11183527	0.90[JPT][hapmap]
rs12227156	0.82[ASN][1000 genomes]
rs4076248	0.88[CEU][hapmap];0.87[MEX][hapmap];0.82[YRI][hapmap]
rs4768735	0.89[GIH][hapmap];0.90[JPT][hapmap]
rs6582656	0.88[CEU][hapmap]
rs7487075	0.87[CEU][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	esv1842882	chr12:46691487-47009428	Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	149 gene(s)	inside rSNPs	diseases
2	nsv1049525	chr12:46721742-47264172	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
3	nsv541486	chr12:46721742-47264172	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
4	esv3429861	chr12:46762813-46988789	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	145 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:46910800-46920000	Enhancers	Fetal Lung	lung
2	chr12:46911600-46922800	Weak transcription	Primary B cells from cord blood	blood
3	chr12:46911800-46921800	Weak transcription	Primary B cells from peripheral blood	blood
4	chr12:46913600-46921400	Weak transcription	GM12878-XiMat	blood
5	chr12:46916000-46919800	Enhancers	Fetal Heart	heart
6	chr12:46916200-46920400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr12:46916400-46919400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr12:46916400-46921000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr12:46916800-46919400	Enhancers	Placenta	Placenta
10	chr12:46916800-46920000	Enhancers	Fetal Thymus	thymus
11	chr12:46917000-46919400	Enhancers	Fetal Muscle Trunk	muscle
12	chr12:46917000-46919600	Enhancers	Fetal Stomach	stomach
13	chr12:46917000-46920800	Enhancers	Fetal Muscle Leg	muscle
14	chr12:46917200-46919200	Enhancers	Fetal Intestine Large	intestine
15	chr12:46917200-46919200	Enhancers	Fetal Intestine Small	intestine
16	chr12:46917200-46919400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr12:46917200-46919400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr12:46917200-46919400	Enhancers	Right Atrium	heart
19	chr12:46917200-46920000	Enhancers	Left Ventricle	heart
20	chr12:46917400-46919400	Enhancers	Duodenum Smooth Muscle	Duodenum
21	chr12:46917400-46919400	Enhancers	Fetal Kidney	kidney
22	chr12:46917400-46919600	Enhancers	Skeletal Muscle Female	skeletal muscle
23	chr12:46917400-46919800	Enhancers	Rectal Smooth Muscle	rectum
24	chr12:46917800-46919400	Enhancers	Adipose Nuclei	Adipose
25	chr12:46917800-46919600	Enhancers	Placenta Amnion	Placenta Amnion
26	chr12:46917800-46920000	Enhancers	Skeletal Muscle Male	skeletal muscle
27	chr12:46917800-46920400	Enhancers	Ovary	ovary
28	chr12:46918000-46919400	Enhancers	K562	blood
29	chr12:46918000-46919400	Enhancers	NH-A	brain
30	chr12:46918000-46920400	Enhancers	Psoas Muscle	Psoas
31	chr12:46918000-46924800	Weak transcription	Primary hematopoietic stem cells	blood
32	chr12:46918200-46919200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr12:46918200-46919200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
34	chr12:46918200-46919400	Enhancers	Primary T cells fromperipheralblood	blood
35	chr12:46918200-46919400	Enhancers	HUVEC	blood vessel
36	chr12:46918200-46919600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr12:46918200-46919800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr12:46918400-46919400	Enhancers	Osteobl	bone
39	chr12:46918400-46919600	Enhancers	Primary T cells from cord blood	blood
40	chr12:46918400-46924200	Weak transcription	Right Ventricle	heart
41	chr12:46918600-46919200	Enhancers	A549	lung
42	chr12:46918600-46919400	Enhancers	HepG2	liver
43	chr12:46918600-46919600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr12:46918600-46919600	Enhancers	Stomach Smooth Muscle	stomach
45	chr12:46918600-46919800	Enhancers	NHDF-Ad	bronchial
46	chr12:46918600-46919800	Enhancers	NHLF	lung
47	chr12:46918600-46920000	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr12:46918600-46920000	Enhancers	HSMMtube	muscle
49	chr12:46918800-46919600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr12:46918800-46919800	Enhancers	Muscle Satellite Cultured Cells	--

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