Variant report

Variant	rs73166617
Chromosome Location	chr22:21924499-21924500
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:21922090..21924831-chr5:33485334..33486835,3	K562	blood:
2	chr22:21271132..21271932-chr22:21924238..21924787,2	K562	blood:
3	chr22:21757262..21759399-chr22:21922328..21924805,2	K562	blood:
4	chr22:21924198..21925733-chr22:21954997..21956640,2	MCF-7	breast:
5	chr22:21921034..21925776-chr22:21981790..21988067,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000161179	Chromatin interaction
ENSG00000099942	Chromatin interaction
ENSG00000161180	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs62235102	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1797853	chr22:21445008-21927194	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv1065383	chr22:21462233-21929649	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	esv1815888	chr22:21486890-21947822	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv1065490	chr22:21567219-21949226	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	nsv1056096	chr22:21567219-21951562	Enhancers Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
6	esv1825387	chr22:21609069-21932052	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
7	esv1829198	chr22:21618311-21928852	Genic enhancers Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer 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	37 gene(s)	inside rSNPs	diseases
8	esv1830853	chr22:21657204-21932252	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
9	esv1797475	chr22:21683210-21950089	Enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
10	esv1816994	chr22:21683210-21950089	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
11	esv1824349	chr22:21683210-21950089	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers 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	34 gene(s)	inside rSNPs	diseases
12	esv1826188	chr22:21683210-21950089	Flanking Active TSS Active TSS Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
13	esv1851345	chr22:21683210-21950089	Strong transcription Active TSS Genic enhancers Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
14	nsv428386	chr22:21683210-21950089	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
15	esv1844701	chr22:21699366-21928852	Enhancers Genic enhancers Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
16	esv1850694	chr22:21710291-21926222	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS 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	31 gene(s)	inside rSNPs	diseases
17	esv1807804	chr22:21726851-21928852	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
18	nsv914458	chr22:21747678-22070489	Enhancers Flanking Active TSS Active TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	387 gene(s)	inside rSNPs	diseases
19	nsv834145	chr22:21775069-21950089	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
20	nsv482690	chr22:21807513-22016791	Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	374 gene(s)	inside rSNPs	diseases
21	nsv1064360	chr22:21809185-21951562	Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
22	nsv1067125	chr22:21815854-21927890	Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
23	nsv1060781	chr22:21815854-21929649	Flanking Active TSS Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:21922400-21926000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr22:21922600-21925000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr22:21922600-21925000	Transcr. at gene 5' and 3'	Dnd41	blood
4	chr22:21922600-21925800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
5	chr22:21922800-21924600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
6	chr22:21922800-21925000	Enhancers	Spleen	Spleen
7	chr22:21923000-21924600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr22:21923000-21924600	Flanking Active TSS	Osteobl	bone
9	chr22:21923000-21925000	Flanking Active TSS	HUVEC	blood vessel
10	chr22:21923000-21925600	Transcr. at gene 5' and 3'	K562	blood
11	chr22:21923200-21924800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr22:21923200-21925800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr22:21923200-21926000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr22:21923200-21926200	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr22:21923200-21929000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
16	chr22:21923200-21929000	Enhancers	Fetal Heart	heart
17	chr22:21923200-21929800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr22:21923400-21924600	Enhancers	Right Ventricle	heart
19	chr22:21923400-21924600	Enhancers	Sigmoid Colon	Sigmoid Colon
20	chr22:21923400-21924800	Enhancers	HSMMtube	muscle
21	chr22:21923400-21925000	Enhancers	Pancreas	Pancrea
22	chr22:21923400-21925200	Enhancers	Colon Smooth Muscle	Colon
23	chr22:21923400-21925600	Enhancers	Brain Angular Gyrus	brain
24	chr22:21923400-21925600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
25	chr22:21923400-21925800	Enhancers	Primary B cells from cord blood	blood
26	chr22:21923400-21926000	Enhancers	Primary B cells from peripheral blood	blood
27	chr22:21923400-21926000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
28	chr22:21923400-21926000	Enhancers	Left Ventricle	heart
29	chr22:21923400-21926000	Enhancers	Stomach Mucosa	stomach
30	chr22:21923400-21926200	Enhancers	Brain Anterior Caudate	brain
31	chr22:21923400-21926600	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr22:21923400-21926800	Enhancers	Primary T cells fromperipheralblood	blood
33	chr22:21923400-21927200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
34	chr22:21923400-21928800	Enhancers	Brain Substantia Nigra	brain
35	chr22:21923400-21929000	Enhancers	Primary neutrophils fromperipheralblood	blood
36	chr22:21923400-21930600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
37	chr22:21923600-21924600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr22:21923600-21924600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr22:21923600-21924600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
40	chr22:21923600-21924600	Genic enhancers	Fetal Muscle Leg	muscle
41	chr22:21923600-21924600	Enhancers	Small Intestine	intestine
42	chr22:21923600-21925000	Enhancers	Esophagus	oesophagus
43	chr22:21923600-21925000	Genic enhancers	Fetal Stomach	stomach
44	chr22:21923600-21925000	Flanking Active TSS	Hela-S3	cervix
45	chr22:21923600-21926200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr22:21923800-21924600	Flanking Active TSS	Primary hematopoietic stem cells	blood
47	chr22:21923800-21924600	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr22:21923800-21924600	Enhancers	Colonic Mucosa	Colon
49	chr22:21923800-21924600	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
50	chr22:21923800-21924600	Enhancers	Ovary	ovary

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