Variant report

Variant	rs2798285
Chromosome Location	chr4:3046053-3046054
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs1263308	0.95[ASN][1000 genomes]
rs1263309	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1313766	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1313767	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1313769	0.94[ASN][1000 genomes]
rs1313770	0.96[ASN][1000 genomes]
rs1313772	0.82[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1313773	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1313774	0.96[ASN][1000 genomes]
rs2067003	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.92[AFR][1000 genomes];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2471334	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2798289	0.98[ASN][1000 genomes]
rs2798296	0.82[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];0.93[TSI][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2857843	0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2857846	0.98[ASN][1000 genomes]
rs2857847	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2857853	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2857936	0.91[CHB][hapmap];0.95[JPT][hapmap];0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3021126	1.00[ASW][hapmap];0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];0.88[LWK][hapmap];0.88[MKK][hapmap];0.93[TSI][hapmap];0.86[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3418626	chr4:2741174-3461492	Genic enhancers Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	esv3397632	chr4:2741239-3460583	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	nsv461163	chr4:2906285-3234980	Enhancers Strong transcription Flanking Active TSS Genic enhancers Weak transcription Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
4	nsv593437	chr4:2906285-3234980	Genic enhancers Active TSS Strong transcription Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
5	nsv1013440	chr4:2993130-3053503	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs2798285	HTT-AS1	cis	Whole Blood	GTEx
rs2798285	GRK4	cis	cerebellum	SCAN
rs2798285	RGS12	cis	parietal	SCAN

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:3043600-3047400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr4:3044000-3046800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr4:3044000-3048600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr4:3044000-3049400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr4:3044200-3046400	Weak transcription	Primary hematopoietic stem cells	blood
6	chr4:3044200-3046800	Weak transcription	Rectal Smooth Muscle	rectum
7	chr4:3044200-3047000	Weak transcription	Primary T cells from cord blood	blood
8	chr4:3044200-3047200	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr4:3044200-3049000	Enhancers	Primary T cells fromperipheralblood	blood
10	chr4:3044200-3049400	Weak transcription	Brain Hippocampus Middle	brain
11	chr4:3044200-3049400	Weak transcription	HUVEC	blood vessel
12	chr4:3044400-3046200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr4:3044400-3046400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr4:3044400-3046400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr4:3044400-3046400	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr4:3044400-3046400	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr4:3044400-3046600	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr4:3044400-3047000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr4:3044400-3047000	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr4:3044400-3047000	Weak transcription	NHDF-Ad	bronchial
21	chr4:3044400-3049200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr4:3044400-3049200	Weak transcription	Stomach Mucosa	stomach
23	chr4:3044400-3050800	Enhancers	Primary B cells from peripheral blood	blood
24	chr4:3044600-3046200	Weak transcription	Duodenum Mucosa	Duodenum
25	chr4:3044600-3046400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr4:3044600-3046400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
27	chr4:3044600-3046400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr4:3044600-3046400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr4:3044600-3046400	Weak transcription	Fetal Intestine Small	intestine
30	chr4:3044600-3046400	Weak transcription	Sigmoid Colon	Sigmoid Colon
31	chr4:3044600-3046600	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr4:3044600-3046600	Weak transcription	Spleen	Spleen
33	chr4:3044600-3046800	Weak transcription	Osteobl	bone
34	chr4:3044600-3047000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr4:3044600-3047000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr4:3044600-3047000	Weak transcription	Adipose Nuclei	Adipose
37	chr4:3044600-3048000	Weak transcription	Right Atrium	heart
38	chr4:3044600-3049200	Weak transcription	Brain Anterior Caudate	brain
39	chr4:3044600-3049200	Weak transcription	Lung	lung
40	chr4:3044600-3049400	Weak transcription	Gastric	stomach
41	chr4:3044800-3046200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr4:3044800-3046400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr4:3044800-3046400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr4:3044800-3046600	Weak transcription	Primary monocytes fromperipheralblood	blood
45	chr4:3044800-3047200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr4:3044800-3050600	Enhancers	Primary B cells from cord blood	blood
47	chr4:3045000-3049200	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr4:3045000-3049400	Weak transcription	Left Ventricle	heart
49	chr4:3045400-3046400	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr4:3045400-3046400	Weak transcription	Monocytes-CD14+_RO01746	blood

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