Variant report

Variant	rs6518997
Chromosome Location	chr22:22211315-22211316
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 82 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs16985625	1.00[EUR][1000 genomes]
rs171254	1.00[EUR][1000 genomes]
rs171276	1.00[EUR][1000 genomes]
rs238779	1.00[EUR][1000 genomes]
rs238780	1.00[EUR][1000 genomes]
rs240050	1.00[EUR][1000 genomes]
rs240052	1.00[EUR][1000 genomes]
rs240059	1.00[EUR][1000 genomes]
rs240063	1.00[EUR][1000 genomes]
rs240617	1.00[EUR][1000 genomes]
rs240618	1.00[EUR][1000 genomes]
rs240620	1.00[EUR][1000 genomes]
rs3810607	1.00[EUR][1000 genomes]
rs389929	1.00[EUR][1000 genomes]
rs462496	1.00[EUR][1000 genomes]
rs55710707	1.00[EUR][1000 genomes]
rs56031527	1.00[EUR][1000 genomes]
rs56091280	1.00[EUR][1000 genomes]
rs57001004	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57416050	1.00[EUR][1000 genomes]
rs57468132	1.00[EUR][1000 genomes]
rs57891800	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58541082	1.00[EUR][1000 genomes]
rs59312009	1.00[EUR][1000 genomes]
rs59378807	1.00[EUR][1000 genomes]
rs5999452	0.93[YRI][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5999614	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5999704	0.96[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5999785	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5999880	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5999887	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5999891	0.88[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6000479	1.00[EUR][1000 genomes]
rs6000497	1.00[EUR][1000 genomes]
rs60142295	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60882067	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61127309	1.00[EUR][1000 genomes]
rs61162606	1.00[EUR][1000 genomes]
rs61336350	1.00[EUR][1000 genomes]
rs61757985	1.00[EUR][1000 genomes]
rs6519019	1.00[EUR][1000 genomes]
rs7284924	1.00[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7286970	1.00[EUR][1000 genomes]
rs73386262	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73386274	1.00[EUR][1000 genomes]
rs73388136	1.00[EUR][1000 genomes]
rs73388154	1.00[EUR][1000 genomes]
rs73388182	1.00[EUR][1000 genomes]
rs73877678	1.00[EUR][1000 genomes]
rs73877693	1.00[EUR][1000 genomes]
rs743533	1.00[EUR][1000 genomes]
rs8136902	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8138018	1.00[EUR][1000 genomes]
rs8139215	1.00[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:28 , 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	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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
23	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
24	esv2422372	chr22:22198324-22731587	Strong transcription Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
25	esv2422362	chr22:22198357-23125553	Enhancers Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS 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
26	esv2422446	chr22:22198357-23127963	Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	145 gene(s)	inside rSNPs	diseases
27	esv2422338	chr22:22210933-22417406	Genic enhancers Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription 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	46 gene(s)	inside rSNPs	diseases
28	esv2422223	chr22:22210933-22700941	Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Enhancers Active TSS Strong transcription 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	74 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:22192200-22214600	Weak transcription	Hela-S3	cervix
2	chr22:22192200-22220200	Weak transcription	Placenta	Placenta
3	chr22:22192400-22212000	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr22:22192400-22214800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr22:22192600-22211600	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr22:22192600-22212200	Weak transcription	Fetal Muscle Trunk	muscle
7	chr22:22193000-22212200	Weak transcription	HUVEC	blood vessel
8	chr22:22193000-22219200	Weak transcription	NH-A	brain
9	chr22:22193200-22215000	Weak transcription	HSMM	muscle
10	chr22:22193200-22217800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr22:22194000-22220400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr22:22197600-22212000	Weak transcription	Fetal Thymus	thymus
13	chr22:22199200-22212200	Weak transcription	Thymus	Thymus
14	chr22:22201400-22212200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr22:22201400-22214200	Weak transcription	Esophagus	oesophagus
16	chr22:22201600-22215200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr22:22202600-22212200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr22:22203000-22214200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr22:22203000-22219600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr22:22203800-22219400	Enhancers	Primary T helper cells fromperipheralblood	blood
21	chr22:22204200-22211400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr22:22204200-22211600	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr22:22204200-22214600	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr22:22204200-22215000	Weak transcription	A549	lung
25	chr22:22204400-22212400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr22:22204600-22211600	Weak transcription	Small Intestine	intestine
27	chr22:22204800-22211600	Weak transcription	Colonic Mucosa	Colon
28	chr22:22205000-22211400	Weak transcription	Primary B cells from peripheral blood	blood
29	chr22:22205600-22211800	Weak transcription	HMEC	breast
30	chr22:22205600-22212200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr22:22205600-22214800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr22:22205600-22215600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr22:22205800-22215600	Weak transcription	NHEK	skin
34	chr22:22206600-22211800	Weak transcription	Stomach Mucosa	stomach
35	chr22:22207200-22212200	Weak transcription	Fetal Stomach	stomach
36	chr22:22207400-22211400	Weak transcription	Fetal Intestine Large	intestine
37	chr22:22207400-22214000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr22:22207600-22214000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr22:22207800-22217000	Genic enhancers	K562	blood
40	chr22:22208000-22214200	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr22:22208200-22219400	Enhancers	Primary T helper naive cells from peripheral blood	blood
42	chr22:22208400-22217600	Enhancers	Fetal Heart	heart
43	chr22:22208800-22212800	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr22:22208800-22213000	Enhancers	Brain Hippocampus Middle	brain
45	chr22:22208800-22213400	Enhancers	Brain Substantia Nigra	brain
46	chr22:22208800-22218600	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr22:22208800-22219000	Enhancers	Primary T killer memory cells from peripheral blood	blood
48	chr22:22209000-22213000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
49	chr22:22209000-22213200	Enhancers	Rectal Smooth Muscle	rectum
50	chr22:22209000-22215600	Enhancers	Brain Anterior Caudate	brain

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