Variant report

Variant	rs8138075
Chromosome Location	chr22:22109381-22109382
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:22107700..22110660-chr22:22291267..22295337,4	K562	blood:
2	chr22:22108696..22110374-chr22:22279549..22281970,2	K562	blood:
3	chr22:22108841..22110548-chr22:22265297..22267699,2	K562	blood:
4	chr22:22106788..22109532-chr22:22300482..22301999,2	K562	blood:
5	chr22:22105462..22113416-chr22:22219449..22224505,14	K562	blood:
6	chr22:22108974..22111937-chr22:22177165..22178956,2	K562	blood:
7	chr22:22020205..22021766-chr22:22107002..22110319,3	K562	blood:
8	chr22:22108696..22111013-chr22:22279549..22284979,5	K562	blood:
9	chr22:22107491..22109673-chr22:22180297..22182742,2	K562	blood:
10	chr22:22087745..22091288-chr22:22108991..22112172,3	MCF-7	breast:
11	chr22:22066089..22068465-chr22:22108326..22110815,2	K562	blood:
12	chr22:22001036..22002696-chr22:22109195..22111592,2	K562	blood:
13	chr22:22100635..22103684-chr22:22106701..22109706,3	MCF-7	breast:
14	chr22:22108499..22109538-chr22:22292552..22293177,3	K562	blood:
15	chr22:22104264..22113416-chr22:22217620..22224505,20	K562	blood:

No data

Variant related genes	Relation type
ENSG00000224086	Chromatin interaction
ENSG00000100034	Chromatin interaction
ENSG00000100027	Chromatin interaction
ENSG00000100030	Chromatin interaction
ENSG00000100023	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1063311	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11912377	0.87[EUR][1000 genomes]
rs11913721	0.87[EUR][1000 genomes]
rs2266965	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2266966	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2266969	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2283791	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2283793	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs28697123	0.88[EUR][1000 genomes]
rs28720995	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4640486	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56036797	0.87[EUR][1000 genomes]
rs56227348	0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs5999749	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs5999752	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs62235132	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6518968	0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7290469	0.88[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7292584	0.86[EUR][1000 genomes]
rs8139376	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9340	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap]
rs9607241	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9607285	1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9607298	0.87[EUR][1000 genomes]
rs9610271	0.86[EUR][1000 genomes]
rs9610294	0.90[ASN][1000 genomes]
rs9610314	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9610328	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9610338	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9610374	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes]
rs9610375	0.82[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1823866	chr22:21928916-22131125	Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Genic enhancers 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 miRNA target site	374 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	nsv510804	chr22:22024531-22132764	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
10	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
11	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
12	nsv1063134	chr22:22067645-22129322	Bivalent Enhancer Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Active TSS Flanking Active TSS 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	18 gene(s)	inside rSNPs	diseases
13	nsv544605	chr22:22067645-22129322	Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
14	esv3423141	chr22:22074283-22135439	Strong transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
15	nsv1060548	chr22:22079163-22126826	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
16	nsv531549	chr22:22082380-22116681	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription 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	16 gene(s)	inside rSNPs	diseases
17	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
18	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs8138075	LL22NC03-86G7.1	cis	Nerve Tibial	GTEx

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:22090800-22111000	Weak transcription	Primary T cells from cord blood	blood
2	chr22:22090800-22115800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
3	chr22:22091000-22110000	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr22:22091000-22110800	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr22:22091000-22111200	Weak transcription	Pancreas	Pancrea
6	chr22:22091000-22112600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
7	chr22:22091000-22116600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr22:22092800-22115400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr22:22098400-22117400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr22:22103000-22115400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr22:22103200-22109400	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr22:22103400-22112600	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr22:22104800-22110800	Weak transcription	Thymus	Thymus
14	chr22:22104800-22112400	Weak transcription	Dnd41	blood
15	chr22:22105000-22110800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr22:22105400-22112600	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr22:22105600-22110400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr22:22105800-22111400	Weak transcription	Primary monocytes fromperipheralblood	blood
19	chr22:22105800-22111400	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr22:22105800-22111600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr22:22105800-22118000	Strong transcription	Primary neutrophils fromperipheralblood	blood
22	chr22:22106000-22112600	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr22:22106200-22111600	Weak transcription	Rectal Smooth Muscle	rectum
24	chr22:22106400-22110600	Weak transcription	A549	lung
25	chr22:22107000-22110200	Enhancers	Placenta	Placenta
26	chr22:22107200-22111000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
27	chr22:22107400-22110600	Enhancers	Fetal Muscle Leg	muscle
28	chr22:22107600-22109600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr22:22107600-22110600	Enhancers	Stomach Mucosa	stomach
30	chr22:22107600-22111600	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr22:22107800-22110600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr22:22108000-22109600	Enhancers	Esophagus	oesophagus
33	chr22:22108000-22109800	Enhancers	Left Ventricle	heart
34	chr22:22108000-22110200	Flanking Active TSS	K562	blood
35	chr22:22108000-22110800	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr22:22108000-22111200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr22:22108200-22109800	Enhancers	Fetal Stomach	stomach
38	chr22:22108200-22110000	Enhancers	Primary B cells from cord blood	blood
39	chr22:22108200-22110200	Enhancers	Fetal Brain Male	brain
40	chr22:22108200-22110400	Enhancers	Gastric	stomach
41	chr22:22108400-22110800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr22:22108400-22111000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr22:22108400-22111200	Weak transcription	Aorta	Aorta
44	chr22:22108600-22109600	Enhancers	Primary hematopoietic stem cells	blood
45	chr22:22108600-22109600	Enhancers	Rectal Mucosa Donor 31	rectum
46	chr22:22108600-22109800	Enhancers	Fetal Thymus	thymus
47	chr22:22108600-22110200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr22:22108600-22110600	Enhancers	Primary B cells from peripheral blood	blood
49	chr22:22108600-22110600	Enhancers	Duodenum Mucosa	Duodenum
50	chr22:22108600-22110600	Enhancers	Fetal Heart	heart

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