Variant report

Variant	rs6843300
Chromosome Location	chr4:153032049-153032050
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:153031366..153033084-chr4:153033664..153036151,2	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10030518	0.89[EUR][1000 genomes]
rs11727245	0.95[ASN][1000 genomes]
rs11734900	0.95[ASN][1000 genomes]
rs13107968	0.95[ASN][1000 genomes]
rs13147317	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13151283	0.93[ASN][1000 genomes]
rs17276450	0.93[ASN][1000 genomes]
rs17276520	0.83[ASN][1000 genomes]
rs17361216	0.93[ASN][1000 genomes]
rs17361258	0.93[ASN][1000 genomes]
rs2406625	0.87[EUR][1000 genomes]
rs28531716	0.86[ASN][1000 genomes]
rs34067446	0.93[ASN][1000 genomes]
rs34509512	0.93[ASN][1000 genomes]
rs34771630	0.93[ASN][1000 genomes]
rs35336515	0.93[ASN][1000 genomes]
rs35897176	0.93[ASN][1000 genomes]
rs4557238	0.84[EUR][1000 genomes]
rs61226564	0.89[EUR][1000 genomes]
rs6535836	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6535837	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6535839	0.87[EUR][1000 genomes]
rs6535840	0.89[EUR][1000 genomes]
rs66476112	0.93[ASN][1000 genomes]
rs6823091	0.89[EUR][1000 genomes]
rs6837375	0.89[EUR][1000 genomes]
rs6843947	0.89[EUR][1000 genomes]
rs6848307	0.86[EUR][1000 genomes]
rs6858503	0.82[CEU][hapmap]
rs747110	0.93[CEU][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7668917	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7671283	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	esv3340846	chr4:153031727-153034275	Weak transcription Enhancers Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	esv3347718	chr4:153031952-153034050	Enhancers Weak transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6843300	RP11-18H21.1	cis	Whole Blood	GTEx

Chromatin state (count:47 , 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	chr4:153024200-153032600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
3	chr4:153024800-153032200	Enhancers	Primary T cells fromperipheralblood	blood
4	chr4:153024800-153032200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr4:153024800-153032200	Enhancers	Fetal Muscle Leg	muscle
6	chr4:153024800-153037000	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr4:153025400-153032600	Enhancers	Primary T helper naive cells from peripheral blood	blood
8	chr4:153025400-153032600	Enhancers	Primary T killer memory cells from peripheral blood	blood
9	chr4:153026200-153032600	Enhancers	Primary T helper cells PMA-I stimulated	--
10	chr4:153026400-153032200	Enhancers	Thymus	Thymus
11	chr4:153027200-153032400	Enhancers	Duodenum Smooth Muscle	Duodenum
12	chr4:153028000-153033200	Weak transcription	Monocytes-CD14+_RO01746	blood
13	chr4:153028000-153035800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr4:153028200-153033200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr4:153028400-153033200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr4:153028400-153033600	Weak transcription	Psoas Muscle	Psoas
17	chr4:153028600-153033200	Weak transcription	Right Atrium	heart
18	chr4:153029600-153037200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr4:153030000-153032400	Enhancers	Fetal Stomach	stomach
20	chr4:153030200-153032200	Enhancers	Left Ventricle	heart
21	chr4:153030600-153032600	Enhancers	Primary T cells from cord blood	blood
22	chr4:153030800-153032400	Enhancers	Fetal Heart	heart
23	chr4:153031000-153032200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr4:153031000-153033200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr4:153031000-153033200	Weak transcription	Lung	lung
26	chr4:153031200-153032200	Enhancers	Stomach Smooth Muscle	stomach
27	chr4:153031200-153032600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
28	chr4:153031200-153033200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr4:153031200-153036600	Weak transcription	Dnd41	blood
30	chr4:153031400-153032600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr4:153031400-153033200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr4:153031400-153033200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr4:153031400-153034400	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr4:153031600-153033200	Weak transcription	Spleen	Spleen
35	chr4:153031600-153034200	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr4:153031600-153035000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr4:153031600-153035400	Weak transcription	Cortex derived primary cultured neurospheres	brain
38	chr4:153031600-153036400	Weak transcription	Fetal Muscle Trunk	muscle
39	chr4:153031600-153036600	Weak transcription	HUVEC	blood vessel
40	chr4:153031600-153036800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr4:153031600-153040000	Weak transcription	Right Ventricle	heart
42	chr4:153031800-153033200	Weak transcription	Adipose Nuclei	Adipose
43	chr4:153031800-153035400	Weak transcription	Fetal Brain Male	brain
44	chr4:153031800-153036400	Weak transcription	Primary hematopoietic stem cells	blood
45	chr4:153032000-153032200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
46	chr4:153032000-153032200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr4:153032000-153032200	Enhancers	Fetal Thymus	thymus

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