Variant report

Variant	rs6518986
Chromosome Location	chr22:22185347-22185348
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	chr22:22081671..22084644-chr22:22182581..22185976,3	K562	blood:
2	chr22:22185084..22188761-chr22:22306127..22308519,4	K562	blood:

Variant related genes	Relation type
ENSG00000100034	Chromatin interaction

Extended variants
information (count: 68 )
Associated
traits (count: 8 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs11704205	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13943	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1892846	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1892848	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2006893	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2266967	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2283792	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2283794	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28566555	0.83[EUR][1000 genomes]
rs34550586	0.84[ASN][1000 genomes]
rs3788332	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3810609	0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3810610	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4478016	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4516540	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4821402	0.80[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs55762115	0.82[EUR][1000 genomes]
rs5749806	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs5749937	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs5749986	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs5749998	0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs5750113	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5755099	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs5755654	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5755694	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5999515	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5999521	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5999550	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs5999750	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6928	0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs743409	0.88[EUR][1000 genomes]
rs8136590	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8136867	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8141851	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9607287	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs9607340	0.86[EUR][1000 genomes]
rs9607347	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9610371	0.82[EUR][1000 genomes]
rs9610375	0.83[EUR][1000 genomes]
rs9610458	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9610500	0.90[ASN][1000 genomes]
rs9610505	0.82[EUR][1000 genomes]
rs9610533	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948603	chr22:21928916-22601814	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	422 gene(s)	inside rSNPs	diseases
2	nsv948902	chr22:21928916-22657900	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer 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	426 gene(s)	inside rSNPs	diseases
3	nsv1063962	chr22:21939722-22934593	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	477 gene(s)	inside rSNPs	diseases
4	nsv1058617	chr22:21939922-22934454	Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	477 gene(s)	inside rSNPs	diseases
5	nsv529694	chr22:21957411-22905068	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	474 gene(s)	inside rSNPs	diseases
6	nsv531797	chr22:21977700-22959729	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	476 gene(s)	inside rSNPs	diseases
7	nsv1066403	chr22:22010822-22352262	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats 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	51 gene(s)	inside rSNPs	diseases
8	nsv1066964	chr22:22055123-22228745	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
9	nsv544604	chr22:22055123-22228745	Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
10	nsv588322	chr22:22086373-22186479	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
11	nsv948580	chr22:22100718-22839559	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers 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	97 gene(s)	inside rSNPs	diseases
12	esv1795495	chr22:22131125-22204916	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
13	nsv914470	chr22:22131125-22272737	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
14	nsv1059265	chr22:22131125-22457154	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
15	esv3379268	chr22:22135347-22446281	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
16	esv3385441	chr22:22135777-22320294	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
17	esv2752404	chr22:22141825-22570417	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
18	esv2422277	chr22:22144108-22442159	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
19	esv2422295	chr22:22144108-22442159	Bivalent/Poised TSS Flanking Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
20	esv2422374	chr22:22152248-22595246	Weak transcription Enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
21	esv2422403	chr22:22152248-23112582	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
22	nsv1062641	chr22:22157661-22367697	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
23	esv2422390	chr22:22157964-23112582	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
24	nsv914471	chr22:22165557-22272737	Active TSS Genic enhancers Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
25	esv2763701	chr22:22173533-22573987	Weak transcription Bivalent Enhancer Genic enhancers Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases

mRNA abundance (count:8)

SNP	Gene	Cis/trans	Tissue	Source
rs6518986	LL22NC03-86G7.1	cis	Nerve Tibial	GTEx
rs6518986	LL22NC03-86G7.1	cis	Whole Blood	GTEx
rs6518986	MAPK1	Cis_1M	lymphoblastoid	RTeQTL
rs6518986	LL22NC03-86G7.1	cis	Heart Left Ventricle	GTEx
rs6518986	LL22NC03-86G7.1	cis	Muscle Skeletal	GTEx
rs6518986	LL22NC03-86G7.1	cis	Thyroid	GTEx
rs6518986	LL22NC03-86G7.1	cis	Adipose Subcutaneous	GTEx
rs6518986	LL22NC03-86G7.1	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:22171400-22186800	Weak transcription	A549	lung
2	chr22:22172400-22186600	Weak transcription	HSMM	muscle
3	chr22:22172600-22186600	Weak transcription	Fetal Intestine Small	intestine
4	chr22:22173200-22189600	Weak transcription	Brain Germinal Matrix	brain
5	chr22:22173800-22186000	Weak transcription	Dnd41	blood
6	chr22:22173800-22189000	Weak transcription	Fetal Thymus	thymus
7	chr22:22174000-22186800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr22:22174000-22186800	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr22:22174000-22187200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr22:22174000-22191800	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr22:22174200-22186800	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr22:22174200-22189200	Weak transcription	Fetal Stomach	stomach
13	chr22:22174600-22187000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr22:22174600-22189200	Weak transcription	Small Intestine	intestine
15	chr22:22174600-22189800	Weak transcription	Primary T cells from cord blood	blood
16	chr22:22174600-22191800	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr22:22174800-22185800	Weak transcription	Fetal Muscle Trunk	muscle
18	chr22:22174800-22186600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr22:22174800-22186600	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr22:22175000-22186600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr22:22177200-22187800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr22:22178400-22186600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr22:22178600-22185400	Weak transcription	Ovary	ovary
24	chr22:22178600-22185800	Weak transcription	Fetal Muscle Leg	muscle
25	chr22:22178800-22186000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr22:22178800-22186000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr22:22178800-22186600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr22:22179000-22185800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr22:22179000-22186400	Weak transcription	Fetal Heart	heart
30	chr22:22179200-22186400	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr22:22179200-22186600	Weak transcription	Primary hematopoietic stem cells	blood
32	chr22:22179200-22186600	Weak transcription	HepG2	liver
33	chr22:22179200-22187000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr22:22179200-22187000	Weak transcription	Stomach Mucosa	stomach
35	chr22:22179200-22189200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr22:22179200-22191000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr22:22179400-22186400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr22:22179400-22186600	Weak transcription	Adipose Nuclei	Adipose
39	chr22:22179400-22186600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr22:22179400-22186600	Weak transcription	Thymus	Thymus
41	chr22:22179600-22185800	Weak transcription	NHLF	lung
42	chr22:22179600-22189400	Weak transcription	HUES48 Cell Line	embryonic stem cell
43	chr22:22179600-22191600	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr22:22180600-22186600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr22:22180800-22185800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr22:22181800-22186000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
47	chr22:22181800-22186600	Weak transcription	Duodenum Mucosa	Duodenum
48	chr22:22182000-22185800	Weak transcription	Rectal Smooth Muscle	rectum
49	chr22:22182400-22185800	Weak transcription	Brain Substantia Nigra	brain
50	chr22:22182400-22186400	Weak transcription	Brain Inferior Temporal Lobe	brain

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