Variant report

Variant	rs12216059
Chromosome Location	chr6:44791861-44791862
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	chr6:44775398..44777439-chr6:44790507..44792288,2	K562	blood:
2	chr6:44791441..44794035-chr6:44828458..44830596,2	K562	blood:

Extended variants
information (count: 4 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs4593363	0.87[EUR][1000 genomes]
rs9369523	1.00[YRI][hapmap]
rs9472418	1.00[YRI][hapmap]

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	esv1842105	chr6:44783457-44798701	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs12216059	TJAP1	cis	parietal	SCAN
rs12216059	SUPT3H	cis	cerebellum	SCAN
rs12216059	CD2AP	cis	parietal	SCAN

Chromatin state (count:24 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:44777400-44796600	Weak transcription	Primary T helper cells fromperipheralblood	blood
2	chr6:44779600-44796200	Weak transcription	Primary T cells from cord blood	blood
3	chr6:44779600-44796600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
4	chr6:44779600-44796800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr6:44779600-44796800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr6:44780000-44798400	Weak transcription	Dnd41	blood
7	chr6:44785200-44795200	Weak transcription	Aorta	Aorta
8	chr6:44785200-44796800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr6:44785800-44796400	Weak transcription	Primary hematopoietic stem cells	blood
10	chr6:44786200-44797200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr6:44789200-44794600	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr6:44789200-44796800	Weak transcription	Primary T cells fromperipheralblood	blood
13	chr6:44790400-44792600	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr6:44790400-44797200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr6:44791000-44793600	Weak transcription	Fetal Stomach	stomach
16	chr6:44791000-44805600	Weak transcription	Ovary	ovary
17	chr6:44791200-44796400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr6:44791200-44799000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr6:44791600-44792200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr6:44791800-44792000	ZNF genes & repeats	Pancreas	Pancrea
21	chr6:44791800-44792200	Enhancers	iPS-20b Cell Line	embryonic stem cell
22	chr6:44791800-44792800	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr6:44791800-44792800	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr6:44791800-44794200	Enhancers	ES-I3 Cell Line	embryonic stem cell

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