Variant report

Variant	rs34771630
Chromosome Location	chr4:153036729-153036730
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 37 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs11721407	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs11726930	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11727188	0.80[AMR][1000 genomes]
rs11727245	0.97[ASN][1000 genomes]
rs11727862	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs11733393	0.85[AMR][1000 genomes]
rs11734900	0.97[ASN][1000 genomes]
rs11736628	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11737156	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs13107968	0.97[ASN][1000 genomes]
rs13112841	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13131134	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13147317	0.93[ASN][1000 genomes]
rs13151283	1.00[ASN][1000 genomes]
rs17276450	1.00[ASN][1000 genomes]
rs17276520	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17361216	0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17361258	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2406622	0.85[AMR][1000 genomes]
rs28531716	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34067446	0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs34069606	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs34276148	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs34509512	1.00[ASN][1000 genomes]
rs34909306	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35296212	0.85[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs35336515	1.00[ASN][1000 genomes]
rs35897176	1.00[ASN][1000 genomes]
rs66476112	0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6843300	0.93[ASN][1000 genomes]
rs7662581	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7674458	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7675481	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7682931	0.88[AMR][1000 genomes];0.84[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	nsv880341	chr4:152861685-153110256	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv931416	chr4:152877808-153440553	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv880774	chr4:153035743-153121818	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs34771630	RP11-18H21.1	cis	Whole Blood	GTEx

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:153023800-153040000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr4:153024800-153037000	Enhancers	Primary T helper cells fromperipheralblood	blood
3	chr4:153029600-153037200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr4:153031600-153036800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr4:153031600-153040000	Weak transcription	Right Ventricle	heart
6	chr4:153032400-153037200	Weak transcription	Fetal Heart	heart
7	chr4:153033000-153036800	Enhancers	Primary T helper naive cells from peripheral blood	blood
8	chr4:153033000-153036800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr4:153033000-153037200	Enhancers	Primary T cells from cord blood	blood
10	chr4:153033200-153036800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
11	chr4:153033200-153037000	Enhancers	Primary T cells fromperipheralblood	blood
12	chr4:153033200-153037000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
13	chr4:153033200-153040800	Enhancers	Fetal Thymus	thymus
14	chr4:153033600-153036800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr4:153034200-153040000	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr4:153035000-153040200	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr4:153035200-153037000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
18	chr4:153035200-153038200	Enhancers	Spleen	Spleen
19	chr4:153035400-153037200	Weak transcription	Right Atrium	heart
20	chr4:153035400-153037400	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr4:153035400-153037600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
22	chr4:153035400-153038800	Weak transcription	Psoas Muscle	Psoas
23	chr4:153035400-153040600	Enhancers	Thymus	Thymus
24	chr4:153035800-153036800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
25	chr4:153035800-153037000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr4:153035800-153038800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
27	chr4:153035800-153038800	Weak transcription	Fetal Brain Male	brain
28	chr4:153035800-153039400	Enhancers	Left Ventricle	heart
29	chr4:153036000-153037000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
30	chr4:153036000-153037400	Enhancers	Fetal Stomach	stomach
31	chr4:153036200-153037200	Enhancers	Adipose Nuclei	Adipose
32	chr4:153036200-153037400	Enhancers	Stomach Smooth Muscle	stomach
33	chr4:153036200-153040600	Enhancers	Fetal Muscle Leg	muscle
34	chr4:153036400-153037000	Enhancers	Primary B cells from cord blood	blood
35	chr4:153036400-153037000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr4:153036400-153037400	Enhancers	Primary hematopoietic stem cells	blood
37	chr4:153036400-153037800	Enhancers	Primary B cells from peripheral blood	blood
38	chr4:153036600-153037000	Weak transcription	Fetal Muscle Trunk	muscle
39	chr4:153036600-153037000	Weak transcription	Lung	lung
40	chr4:153036600-153037400	Weak transcription	Gastric	stomach
41	chr4:153036600-153037400	Enhancers	GM12878-XiMat	blood
42	chr4:153036600-153037600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
43	chr4:153036600-153037800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
44	chr4:153036600-153037800	Enhancers	HUVEC	blood vessel
45	chr4:153036600-153040600	Enhancers	Dnd41	blood

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