Variant report

Variant	rs73327347
Chromosome Location	chr12:66639827-66639828
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:66633892..66636332-chr12:66637597..66640156,2	K562	blood:
2	chr12:66639252..66641651-chr12:66643523..66645666,2	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11465963	0.94[AFR][1000 genomes]
rs12299022	1.00[AMR][1000 genomes]
rs12310745	1.00[AMR][1000 genomes]
rs57481021	1.00[AMR][1000 genomes]
rs59800391	0.94[AFR][1000 genomes]
rs74097880	1.00[AMR][1000 genomes]
rs74097897	0.88[AFR][1000 genomes]
rs74100103	0.88[AFR][1000 genomes]

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	nsv1052503	chr12:66293898-67269495	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv541515	chr12:66293898-67269495	Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv899216	chr12:66563835-66716844	Strong transcription Enhancers Genic enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:66615600-66643400	Weak transcription	Stomach Mucosa	stomach
2	chr12:66629400-66641800	Weak transcription	Esophagus	oesophagus
3	chr12:66629400-66645000	Weak transcription	Right Ventricle	heart
4	chr12:66629400-66645400	Weak transcription	Gastric	stomach
5	chr12:66629600-66643800	Weak transcription	Fetal Muscle Trunk	muscle
6	chr12:66629800-66644000	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr12:66631000-66650000	Weak transcription	Psoas Muscle	Psoas
8	chr12:66631800-66644800	Weak transcription	GM12878-XiMat	blood
9	chr12:66632000-66644400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr12:66632400-66641600	Weak transcription	Fetal Muscle Leg	muscle
11	chr12:66633200-66646400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr12:66634000-66640200	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr12:66634400-66645800	Weak transcription	Duodenum Mucosa	Duodenum
14	chr12:66634600-66640000	Weak transcription	Lung	lung
15	chr12:66634600-66641400	Weak transcription	Thymus	Thymus
16	chr12:66634600-66643400	Weak transcription	Fetal Stomach	stomach
17	chr12:66635000-66642400	Strong transcription	Primary hematopoietic stem cells	blood
18	chr12:66636200-66646600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
19	chr12:66636400-66646800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr12:66636600-66644000	Weak transcription	Primary B cells from cord blood	blood
21	chr12:66636600-66645600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr12:66636600-66649600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr12:66637000-66640000	Strong transcription	Monocytes-CD14+_RO01746	blood
24	chr12:66637200-66641000	Strong transcription	Primary monocytes fromperipheralblood	blood
25	chr12:66637400-66644000	Strong transcription	Left Ventricle	heart
26	chr12:66637800-66648000	Weak transcription	Aorta	Aorta
27	chr12:66638400-66643800	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr12:66638600-66640800	Strong transcription	Fetal Lung	lung
29	chr12:66638600-66641800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr12:66638600-66647400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr12:66638800-66640400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr12:66638800-66641200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr12:66638800-66644400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr12:66639600-66640400	Strong transcription	Liver	Liver
35	chr12:66639800-66640400	Strong transcription	Sigmoid Colon	Sigmoid Colon
36	chr12:66639800-66642600	Genic enhancers	Primary neutrophils fromperipheralblood	blood
37	chr12:66639800-66642600	Strong transcription	Spleen	Spleen
38	chr12:66639800-66643400	Weak transcription	Placenta	Placenta
39	chr12:66639800-66645200	Strong transcription	Adipose Nuclei	Adipose

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