Variant report

Variant	rs5749984
Chromosome Location	chr22:22157060-22157061
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:22153675..22157233-chr22:22176291..22179467,3	K562	blood:
2	chr22:22156510..22158230-chr22:22219938..22223187,3	K562	blood:
3	chr22:22127790..22129989-chr22:22156925..22159029,2	K562	blood:
4	chr22:22156400..22158214-chr22:22194352..22196591,2	K562	blood:

Variant related genes	Relation type
ENSG00000100030	Chromatin interaction

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs11089745	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11703350	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11703624	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11703767	0.83[EUR][1000 genomes]
rs11704265	0.83[EUR][1000 genomes]
rs11704433	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11704597	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12172215	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12172360	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13058633	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13515	0.81[ASN][1000 genomes]
rs17820162	0.87[AMR][1000 genomes]
rs2266968	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2276005	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2276006	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2283795	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2283796	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2298434	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3827303	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4820146	0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4821263	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4821336	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4821367	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4821369	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4821371	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4821401	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs5749769	0.82[EUR][1000 genomes]
rs5749779	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs5749792	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs5749811	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs5749939	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5754916	0.86[EUR][1000 genomes]
rs5754927	0.85[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs5754932	0.81[AMR][1000 genomes]
rs5754944	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs5754947	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs5754968	0.89[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs5754970	0.89[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs5755008	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs5755040	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs5755074	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs5755579	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs5755745	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs5755978	0.83[EUR][1000 genomes]
rs5755996	0.83[EUR][1000 genomes]
rs71314794	0.82[EUR][1000 genomes]
rs9607274	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9607286	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9607348	0.83[EUR][1000 genomes]
rs9607363	0.83[EUR][1000 genomes]
rs9607370	0.83[EUR][1000 genomes]
rs9610199	0.82[EUR][1000 genomes]
rs9610219	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9610228	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9610355	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9610518	0.83[EUR][1000 genomes]
rs9610536	0.83[EUR][1000 genomes]
rs9610574	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 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

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:22113400-22163800	Weak transcription	Right Atrium	heart
2	chr22:22114200-22172800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr22:22121600-22171400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr22:22123200-22162200	Strong transcription	Fetal Thymus	thymus
5	chr22:22127200-22167600	Weak transcription	Psoas Muscle	Psoas
6	chr22:22127200-22170600	Weak transcription	Hela-S3	cervix
7	chr22:22129000-22162200	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr22:22134200-22162200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr22:22135200-22162200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr22:22135800-22162400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr22:22135800-22162600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr22:22135800-22162600	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr22:22136000-22162400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr22:22136200-22161800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr22:22137600-22162600	Strong transcription	Dnd41	blood
16	chr22:22139200-22172800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr22:22140800-22161800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr22:22141000-22162000	Strong transcription	Fetal Intestine Large	intestine
19	chr22:22141000-22162200	Strong transcription	Primary T cells fromperipheralblood	blood
20	chr22:22142800-22170600	Weak transcription	Colonic Mucosa	Colon
21	chr22:22144400-22160200	Strong transcription	Fetal Intestine Small	intestine
22	chr22:22145200-22162200	Strong transcription	Primary neutrophils fromperipheralblood	blood
23	chr22:22145800-22170600	Weak transcription	Small Intestine	intestine
24	chr22:22146000-22162000	Strong transcription	Rectal Mucosa Donor 29	rectum
25	chr22:22146400-22162200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr22:22147600-22162800	Strong transcription	K562	blood
27	chr22:22147800-22162000	Strong transcription	Placenta	Placenta
28	chr22:22148000-22162000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr22:22148000-22162200	Strong transcription	Primary T helper cells fromperipheralblood	blood
30	chr22:22148800-22162000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr22:22148800-22162000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr22:22149400-22162200	Strong transcription	Primary T cells from cord blood	blood
33	chr22:22149600-22162000	Strong transcription	HUES64 Cell Line	embryonic stem cell
34	chr22:22149600-22162200	Strong transcription	Primary B cells from peripheral blood	blood
35	chr22:22149600-22162200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr22:22149600-22162600	Strong transcription	HUES48 Cell Line	embryonic stem cell
37	chr22:22149800-22161000	Strong transcription	Duodenum Smooth Muscle	Duodenum
38	chr22:22149800-22162400	Strong transcription	HUES6 Cell Line	embryonic stem cell
39	chr22:22150400-22158800	Strong transcription	Rectal Smooth Muscle	rectum
40	chr22:22150400-22161000	Strong transcription	Muscle Satellite Cultured Cells	--
41	chr22:22150400-22161600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr22:22150400-22162000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr22:22150400-22162000	Strong transcription	Liver	Liver
44	chr22:22150400-22162000	Strong transcription	Duodenum Mucosa	Duodenum
45	chr22:22150400-22162200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr22:22150400-22162200	Strong transcription	Rectal Mucosa Donor 31	rectum
47	chr22:22150600-22159000	Strong transcription	Fetal Kidney	kidney
48	chr22:22150600-22160800	Strong transcription	Stomach Smooth Muscle	stomach
49	chr22:22150600-22161600	Strong transcription	Fetal Lung	lung
50	chr22:22150600-22161800	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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