Variant report

Variant	rs6751196
Chromosome Location	chr2:99366486-99366487
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10199267	0.84[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs10460485	0.87[EUR][1000 genomes]
rs12622931	0.87[EUR][1000 genomes]
rs13016305	1.00[JPT][hapmap]
rs13391794	0.84[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs13410406	0.84[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs13428808	0.86[EUR][1000 genomes]
rs17021875	1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[TSI][hapmap]
rs60024860	0.84[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs6706340	0.83[ASW][hapmap];0.85[CEU][hapmap];0.81[EUR][1000 genomes]
rs6711099	1.00[JPT][hapmap]
rs6733957	0.84[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs6737760	0.85[CEU][hapmap];0.87[YRI][hapmap];0.87[EUR][1000 genomes]
rs7577636	0.91[ASW][hapmap];0.85[CEU][hapmap];0.88[TSI][hapmap];0.87[YRI][hapmap];0.87[EUR][1000 genomes]
rs7601040	0.85[CEU][hapmap];0.81[EUR][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	nsv1011278	chr2:99280928-99638376	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv535835	chr2:99280928-99638376	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	esv1002315	chr2:99361475-99368975	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs6751196	TSGA10	cis	cerebellum	SCAN
rs6751196	CREG2	cis	cerebellum	SCAN

Chromatin state (count:20 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:99348400-99367000	Weak transcription	Esophagus	oesophagus
2	chr2:99359600-99367200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr2:99359600-99374000	Weak transcription	Aorta	Aorta
4	chr2:99361400-99374000	Weak transcription	Pancreas	Pancrea
5	chr2:99362400-99372800	Weak transcription	Primary T cells from cord blood	blood
6	chr2:99364200-99366600	Enhancers	Primary T cells fromperipheralblood	blood
7	chr2:99364200-99367200	Enhancers	Primary monocytes fromperipheralblood	blood
8	chr2:99364800-99367000	Weak transcription	Fetal Muscle Leg	muscle
9	chr2:99364800-99371200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr2:99365000-99368200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr2:99365200-99372200	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr2:99365400-99367200	Weak transcription	Placenta	Placenta
13	chr2:99365400-99371600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr2:99365400-99372400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr2:99365600-99366600	Enhancers	Fetal Thymus	thymus
16	chr2:99365600-99367000	Enhancers	Monocytes-CD14+_RO01746	blood
17	chr2:99365600-99373600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr2:99365800-99374400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr2:99366000-99369800	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr2:99366200-99372200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood

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