Variant report

Variant	rs2041701
Chromosome Location	chr12:9948346-9948347
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:9916166..9917917-chr12:9948178..9949717,2	K562	blood:
2	chr12:9947454..9950415-chr12:9957578..9960317,3	K562	blood:
3	chr12:9899277..9916007-chr12:9939474..9959569,108	K562	blood:
4	chr12:9947454..9950264-chr12:9957453..9960317,3	K562	blood:
5	chr12:9922886..9925340-chr12:9946588..9948897,3	K562	blood:
6	chr12:9801031..9803712-chr12:9946954..9949811,3	K562	blood:
7	chr12:9936591..9939111-chr12:9947051..9948836,2	K562	blood:
8	chr12:9940606..9942941-chr12:9946721..9948944,2	MCF-7	breast:
9	chr12:9901100..9927208-chr12:9932356..9954328,123	K562	blood:

No data

Variant related genes	Relation type
ENSG00000110848	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1990534	1.00[AMR][1000 genomes]
rs2192442	0.87[AFR][1000 genomes]
rs2401404	0.87[AFR][1000 genomes]
rs6488223	0.87[AFR][1000 genomes]
rs7966708	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3377937	chr12:9938734-9962518	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:9941000-9950200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:9945200-9948600	Enhancers	Primary B cells from peripheral blood	blood
3	chr12:9945600-9951000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr12:9945800-9949000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr12:9946200-9948400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr12:9946200-9949000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
7	chr12:9946600-9949600	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr12:9946600-9950600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr12:9947000-9950000	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr12:9947200-9949000	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr12:9947400-9949200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr12:9947400-9949200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
13	chr12:9947400-9950000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
14	chr12:9947600-9948800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
15	chr12:9947600-9948800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
16	chr12:9947600-9951200	Enhancers	Primary B cells from cord blood	blood
17	chr12:9947600-9951400	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr12:9947800-9948600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr12:9947800-9949000	Enhancers	Primary T cells from cord blood	blood
20	chr12:9947800-9949200	Enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr12:9947800-9949200	Weak transcription	Hela-S3	cervix
22	chr12:9947800-9949400	Enhancers	Primary hematopoietic stem cells	blood
23	chr12:9947800-9949400	Weak transcription	Dnd41	blood
24	chr12:9947800-9949600	Weak transcription	Fetal Thymus	thymus
25	chr12:9947800-9949600	Weak transcription	Monocytes-CD14+_RO01746	blood
26	chr12:9947800-9950600	Weak transcription	Primary monocytes fromperipheralblood	blood
27	chr12:9947800-9951200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr12:9948000-9948400	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr12:9948000-9948400	Enhancers	Primary T killer memory cells from peripheral blood	blood
30	chr12:9948000-9949000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr12:9948000-9949400	Weak transcription	HUVEC	blood vessel
32	chr12:9948000-9950600	Weak transcription	Placenta	Placenta
33	chr12:9948200-9948400	Flanking Active TSS	K562	blood
34	chr12:9948200-9949800	Weak transcription	HUES48 Cell Line	embryonic stem cell

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