Variant report

Variant	rs12299022
Chromosome Location	chr12:66645820-66645821
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:66562168..66564949-chr12:66644024..66646233,2	K562	blood:
2	chr12:66640647..66642842-chr12:66645724..66647826,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HELB-2	chr12:66645119-66647711	NONHSAT029225

Variant related genes	Relation type
ENSG00000155957	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12310745	1.00[AMR][1000 genomes]
rs57481021	1.00[AMR][1000 genomes]
rs73327347	1.00[AMR][1000 genomes]
rs74097880	1.00[AMR][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:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:66631000-66650000	Weak transcription	Psoas Muscle	Psoas
2	chr12:66633200-66646400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr12:66636200-66646600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
4	chr12:66636400-66646800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr12:66636600-66649600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr12:66637800-66648000	Weak transcription	Aorta	Aorta
7	chr12:66638600-66647400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr12:66640400-66646400	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr12:66640400-66648400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr12:66641200-66647800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr12:66641600-66646600	Strong transcription	Fetal Lung	lung
12	chr12:66642000-66646800	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr12:66642000-66646800	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr12:66642400-66647000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr12:66642600-66646000	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr12:66642600-66647600	Strong transcription	Primary neutrophils fromperipheralblood	blood
17	chr12:66642600-66652800	Weak transcription	Spleen	Spleen
18	chr12:66643000-66646000	Weak transcription	Fetal Muscle Leg	muscle
19	chr12:66643800-66646000	Strong transcription	Primary hematopoietic stem cells	blood
20	chr12:66644000-66646200	Weak transcription	Left Ventricle	heart
21	chr12:66644400-66647800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr12:66644400-66648400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr12:66644600-66647600	Weak transcription	Lung	lung
24	chr12:66645200-66646800	Weak transcription	Adipose Nuclei	Adipose

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