Variant report

Variant	rs11949697
Chromosome Location	chr5:80713096-80713097
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	chr5:80704035..80705625-chr5:80712249..80714878,2	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10036712	1.00[CHB][hapmap]
rs10041030	0.91[CHB][hapmap]
rs10042201	0.91[CHB][hapmap]
rs10042303	1.00[CHB][hapmap]
rs10075648	0.92[CHB][hapmap]
rs10474031	0.92[CHB][hapmap]
rs10942267	0.82[CHB][hapmap]
rs10942269	0.82[CHB][hapmap]
rs11739075	0.91[CHB][hapmap]
rs11740719	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12697705	0.91[CHB][hapmap]
rs1541830	0.92[CHB][hapmap]
rs2162973	0.92[CHB][hapmap]
rs3805726	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];0.83[JPT][hapmap];0.91[MEX][hapmap];0.82[TSI][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4274955	0.82[CHB][hapmap]
rs4392600	0.82[CHB][hapmap]
rs4426897	0.82[CHB][hapmap]
rs4513668	0.82[CHB][hapmap]
rs6452412	0.92[CHB][hapmap]
rs6452415	0.92[CHB][hapmap]
rs6452419	0.82[CHB][hapmap]
rs6868422	0.92[CHB][hapmap]
rs6868748	0.92[CHB][hapmap]
rs6871860	0.84[CHB][hapmap]
rs6872775	0.91[CHB][hapmap]
rs6874029	0.82[CHB][hapmap]
rs6877102	0.92[CHB][hapmap]
rs6880200	0.82[CHB][hapmap]
rs6883488	0.91[CHB][hapmap]
rs6887937	0.91[CHB][hapmap]
rs6897189	0.91[CHB][hapmap]
rs7711020	0.84[CHB][hapmap]
rs7717663	0.82[CHB][hapmap]
rs7719373	0.82[CHB][hapmap]
rs7725320	0.82[CHB][hapmap]
rs7733938	1.00[CHB][hapmap]
rs9596	0.92[CHB][hapmap]
rs9641	0.81[LWK][hapmap]
rs964102	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024844	chr5:79862428-80860430	Weak transcription Strong transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv1028498	chr5:80712364-80860430	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11949697	RASGRF2	cis	cerebellum	SCAN

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:80693400-80721600	Weak transcription	Fetal Brain Male	brain
2	chr5:80693800-80714600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr5:80694800-80722400	Weak transcription	Aorta	Aorta
4	chr5:80695400-80716000	Weak transcription	Brain Angular Gyrus	brain
5	chr5:80697200-80739600	Weak transcription	Left Ventricle	heart
6	chr5:80697400-80716000	Weak transcription	Fetal Muscle Trunk	muscle
7	chr5:80698200-80716000	Weak transcription	Thymus	Thymus
8	chr5:80700200-80715000	Weak transcription	Primary T cells fromperipheralblood	blood
9	chr5:80701600-80715800	Weak transcription	Brain Anterior Caudate	brain
10	chr5:80701600-80715800	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr5:80701800-80722000	Weak transcription	Ovary	ovary
12	chr5:80702000-80716000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr5:80702200-80733600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr5:80702400-80715800	Weak transcription	Stomach Smooth Muscle	stomach
15	chr5:80703200-80714000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr5:80703200-80714000	Weak transcription	Primary B cells from peripheral blood	blood
17	chr5:80703200-80779200	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr5:80703400-80716000	Weak transcription	Fetal Brain Female	brain
19	chr5:80704000-80716800	Weak transcription	Colon Smooth Muscle	Colon
20	chr5:80704400-80721600	Weak transcription	Fetal Stomach	stomach
21	chr5:80704400-80747600	Weak transcription	Placenta	Placenta
22	chr5:80704600-80721600	Weak transcription	Fetal Kidney	kidney
23	chr5:80705600-80722000	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr5:80706400-80715600	Weak transcription	NHLF	lung
25	chr5:80706400-80715800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr5:80706600-80715600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr5:80706600-80716000	Weak transcription	Fetal Muscle Leg	muscle
28	chr5:80707200-80714000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr5:80707200-80715600	Weak transcription	HSMM	muscle
30	chr5:80707400-80748400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr5:80708000-80722400	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr5:80708000-80729400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr5:80708200-80721600	Weak transcription	HUES64 Cell Line	embryonic stem cell
34	chr5:80708600-80714200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr5:80708800-80714200	Weak transcription	Fetal Lung	lung
36	chr5:80709000-80715000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr5:80709200-80715000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr5:80709200-80755200	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr5:80709400-80715200	Weak transcription	Primary T helper cells PMA-I stimulated	--
40	chr5:80710400-80718400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr5:80710400-80721600	Strong transcription	Fetal Thymus	thymus
42	chr5:80710600-80721600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
43	chr5:80711000-80716000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr5:80711200-80713800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr5:80711200-80714000	Weak transcription	Primary B cells from cord blood	blood
46	chr5:80711200-80716000	Weak transcription	K562	blood
47	chr5:80711400-80715000	Weak transcription	Primary T cells from cord blood	blood
48	chr5:80711600-80715000	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr5:80712000-80714000	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr5:80712000-80715400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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