Variant report

Variant	rs61336350
Chromosome Location	chr22:22192365-22192366
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 78 )
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	1.00[EUR][1000 genomes]
rs57416050	1.00[EUR][1000 genomes]
rs57468132	1.00[EUR][1000 genomes]
rs57891800	1.00[EUR][1000 genomes]
rs58541082	1.00[EUR][1000 genomes]
rs59312009	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs59378807	1.00[EUR][1000 genomes]
rs5999452	1.00[EUR][1000 genomes]
rs5999614	1.00[EUR][1000 genomes]
rs5999704	1.00[EUR][1000 genomes]
rs5999785	1.00[EUR][1000 genomes]
rs5999880	1.00[EUR][1000 genomes]
rs5999887	1.00[EUR][1000 genomes]
rs5999891	1.00[EUR][1000 genomes]
rs6000479	1.00[EUR][1000 genomes]
rs6000497	1.00[EUR][1000 genomes]
rs60142295	1.00[EUR][1000 genomes]
rs60882067	1.00[EUR][1000 genomes]
rs61127309	1.00[EUR][1000 genomes]
rs61162606	1.00[EUR][1000 genomes]
rs61757985	1.00[EUR][1000 genomes]
rs6518997	1.00[EUR][1000 genomes]
rs6519019	1.00[EUR][1000 genomes]
rs7284924	1.00[EUR][1000 genomes]
rs7286970	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73386262	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[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73877693	1.00[EUR][1000 genomes]
rs743533	1.00[EUR][1000 genomes]
rs8136902	1.00[EUR][1000 genomes]
rs8138018	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs8139215	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:24 , 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	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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
20	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
21	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
22	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
23	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
24	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

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:22182600-22210400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr22:22185400-22200400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr22:22187000-22195000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
4	chr22:22187200-22198200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr22:22187200-22198400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr22:22187200-22200200	Weak transcription	Spleen	Spleen
7	chr22:22187800-22211000	Weak transcription	Dnd41	blood
8	chr22:22189000-22193200	Enhancers	Colon Smooth Muscle	Colon
9	chr22:22189200-22192400	Enhancers	Adipose Nuclei	Adipose
10	chr22:22189200-22193200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr22:22189200-22193200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr22:22189200-22196000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr22:22189600-22197400	Weak transcription	Esophagus	oesophagus
14	chr22:22189600-22198600	Weak transcription	Thymus	Thymus
15	chr22:22189600-22200600	Weak transcription	Ovary	ovary
16	chr22:22190000-22197600	Weak transcription	Lung	lung
17	chr22:22190000-22201200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr22:22190200-22193000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr22:22190200-22193000	Weak transcription	GM12878-XiMat	blood
20	chr22:22190200-22197200	Weak transcription	Primary T cells from cord blood	blood
21	chr22:22190400-22193400	Weak transcription	Pancreas	Pancrea
22	chr22:22190400-22200600	Weak transcription	Brain Germinal Matrix	brain
23	chr22:22190800-22192400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr22:22190800-22192600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr22:22190800-22192600	Enhancers	Fetal Muscle Trunk	muscle
26	chr22:22190800-22192600	Enhancers	Right Atrium	heart
27	chr22:22190800-22193200	Enhancers	Rectal Smooth Muscle	rectum
28	chr22:22191000-22192400	Enhancers	NHEK	skin
29	chr22:22191000-22192600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr22:22191000-22192600	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr22:22191000-22193400	Weak transcription	Primary T cells fromperipheralblood	blood
32	chr22:22191000-22197400	Weak transcription	Primary B cells from cord blood	blood
33	chr22:22191200-22192400	Enhancers	HMEC	breast
34	chr22:22191200-22192600	Enhancers	Fetal Stomach	stomach
35	chr22:22191200-22193600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr22:22191400-22192400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr22:22191400-22192400	Enhancers	Brain Anterior Caudate	brain
38	chr22:22191400-22192400	Enhancers	Brain Hippocampus Middle	brain
39	chr22:22191400-22192400	Enhancers	Fetal Kidney	kidney
40	chr22:22191400-22192600	Enhancers	Brain Angular Gyrus	brain
41	chr22:22191400-22192600	Enhancers	Fetal Muscle Leg	muscle
42	chr22:22191400-22192600	Enhancers	Rectal Mucosa Donor 31	rectum
43	chr22:22191400-22193200	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr22:22191400-22193400	Enhancers	Brain Cingulate Gyrus	brain
45	chr22:22191600-22192400	Enhancers	HUES48 Cell Line	embryonic stem cell
46	chr22:22191600-22192400	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr22:22191600-22192400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr22:22191600-22192400	Enhancers	Fetal Brain Male	brain
49	chr22:22191600-22192400	Enhancers	Stomach Mucosa	stomach
50	chr22:22191600-22192400	Flanking Active TSS	HepG2	liver

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