Variant report

Variant	rs6800949
Chromosome Location	chr3:51755441-51755442
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:51755419..51758012-chr3:51759278..51761153,2	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11919197	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];0.89[TSI][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs13090011	0.92[CEU][hapmap]
rs3821829	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4067	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[JPT][hapmap];0.89[TSI][hapmap]
rs4355273	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4687721	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[MKK][hapmap]
rs4687770	1.00[CEU][hapmap]
rs4687771	1.00[CEU][hapmap]
rs6771491	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs6775666	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.89[TSI][hapmap]
rs6778196	0.80[EUR][1000 genomes]
rs6787312	1.00[CHB][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	nsv1014464	chr3:51220151-51909780	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs6800949	GRM2	cis	Skin Sun Exposed Lower leg	GTEx
rs6800949	TEX264	cis	Artery Tibial	GTEx
rs6800949	TEX264	cis	Nerve Tibial	GTEx

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:51741800-51756000	Weak transcription	Gastric	stomach
2	chr3:51750800-51755600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr3:51752200-51756400	Enhancers	Primary T cells fromperipheralblood	blood
4	chr3:51752600-51755800	Weak transcription	Brain Germinal Matrix	brain
5	chr3:51752800-51755800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr3:51753000-51756200	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr3:51753000-51756400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
8	chr3:51753200-51756200	Enhancers	Primary T helper naive cells from peripheral blood	blood
9	chr3:51753200-51756200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr3:51753600-51755600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr3:51754600-51756400	Enhancers	Esophagus	oesophagus
12	chr3:51754600-51756600	Enhancers	Primary T killer memory cells from peripheral blood	blood
13	chr3:51754800-51756400	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr3:51755000-51756000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr3:51755000-51756400	Enhancers	Primary T cells from cord blood	blood
16	chr3:51755200-51755800	Enhancers	Primary B cells from peripheral blood	blood
17	chr3:51755200-51755800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
18	chr3:51755200-51756000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
19	chr3:51755200-51756000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
20	chr3:51755200-51756000	Enhancers	Dnd41	blood
21	chr3:51755200-51756400	Enhancers	Primary hematopoietic stem cells short term culture	blood
22	chr3:51755200-51756400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr3:51755400-51755600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr3:51755400-51755600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
25	chr3:51755400-51755600	Enhancers	Fetal Brain Male	brain
26	chr3:51755400-51755600	Enhancers	Fetal Brain Female	brain
27	chr3:51755400-51755600	Enhancers	Spleen	Spleen
28	chr3:51755400-51755800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
29	chr3:51755400-51755800	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr3:51755400-51755800	Enhancers	Fetal Thymus	thymus
31	chr3:51755400-51756200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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