Variant report

Variant	rs2194827
Chromosome Location	chr22:21921643-21921644
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GABPA	chr22:21921481-21923217	K562	blood:	n/a	n/a
2	YY1	chr22:21921620-21922921	SK-N-SH	brain:	n/a	chr22:21921939-21921948 chr22:21921939-21921950 chr22:21922023-21922043
3	ETS1	chr22:21921574-21923716	K562	blood:	n/a	chr22:21923017-21923030 chr22:21921947-21921958 chr22:21921960-21921971 chr22:21921961-21921972 chr22:21921960-21921974
4	HEY1	chr22:21921618-21924637	K562	blood:	n/a	chr22:21921981-21921996 chr22:21921938-21921953
5	POU2F2	chr22:21921623-21922246	GM12878	blood:	n/a	chr22:21921946-21921958
6	CBX3	chr22:21920593-21924521	K562	blood:	n/a	n/a
7	STAT5A	chr22:21920882-21924542	K562	blood:	n/a	n/a
8	ELF1	chr22:21921626-21922301	GM12878	blood:	n/a	n/a
9	RCOR1	chr22:21921098-21922253	K562	blood:	n/a	n/a
10	TEAD4	chr22:21921556-21923563	K562	blood:	n/a	n/a
11	POLR2A	chr22:21921624-21923338	K562	blood:	n/a	n/a
12	EGR1	chr22:21921559-21922417	K562	blood:	n/a	chr22:21921960-21921969 chr22:21921945-21921959 chr22:21921948-21921961
13	EGR1	chr22:21921637-21922338	HCT-116	colon:	n/a	chr22:21921960-21921969 chr22:21921945-21921959 chr22:21921948-21921961
14	MAX	chr22:21921549-21923561	K562	blood:	n/a	n/a
15	ELF1	chr22:21921477-21922787	GM12878	blood:	n/a	n/a
16	WRNIP1	chr22:21921163-21922138	GM12878	blood:	n/a	n/a
17	RUNX3	chr22:21921630-21922344	GM12878	blood:	n/a	n/a
18	REST	chr22:21921636-21923011	H1-neurons	neurons:	n/a	n/a
19	NR2F2	chr22:21921531-21922362	K562	blood:	n/a	n/a
20	ZNF384	chr22:21920636-21922313	K562	blood:	n/a	n/a
21	NFATC1	chr22:21921628-21922236	GM12878	blood:	n/a	n/a
22	PML	chr22:21921625-21923444	K562	blood:	n/a	n/a
23	CBX3	chr22:21921126-21922341	K562	blood:	n/a	n/a
24	CEBPB	chr22:21920987-21922233	K562	blood:	n/a	chr22:21921241-21921252
25	GTF3C2	chr22:21921457-21922245	K562	blood:	n/a	n/a
26	THAP1	chr22:21921572-21922790	K562	blood:	n/a	n/a
27	HDAC2	chr22:21921634-21923575	K562	blood:	n/a	chr22:21922703-21922722 chr22:21923300-21923309
28	RCOR1	chr22:21921111-21922265	K562	blood:	n/a	n/a
29	NR2F2	chr22:21920634-21925112	K562	blood:	n/a	n/a
30	POLR2A	chr22:21921563-21922464	PFSK-1	brain:	n/a	n/a
31	CTCF	chr22:21921637-21922863	K562	blood:	n/a	n/a
32	POLR2A	chr22:21921607-21924360	K562	blood:	n/a	n/a
33	TAF1	chr22:21921637-21923562	K562	blood:	n/a	n/a
34	TAF1	chr22:21921641-21922611	ECC-1	luminal epithelium:	n/a	n/a
35	GABPA	chr22:21921637-21922284	SK-N-SH	brain:	n/a	n/a
36	ZKSCAN1	chr22:21920993-21922991	Hela-S3	cervix:	n/a	n/a
37	GABPA	chr22:21921642-21922368	MCF-7	breast:	n/a	n/a
38	ELF1	chr22:21921638-21922288	MCF-7	breast:	n/a	n/a
39	STAT5A	chr22:21921626-21922028	GM12878	blood:	n/a	n/a
40	TEAD4	chr22:21920871-21926468	K562	blood:	n/a	chr22:21925206-21925215
41	FOXM1	chr22:21921591-21922384	GM12878	blood:	n/a	n/a
42	KAP1	chr22:21921463-21923306	K562	blood:	n/a	n/a
43	ELF1	chr22:21921633-21923113	K562	blood:	n/a	n/a
44	STAT5A	chr22:21921626-21922164	K562	blood:	n/a	n/a
45	MAZ	chr22:21921600-21923263	IMR90	lung:	n/a	n/a
46	TRIM28	chr22:21921145-21926546	K562	blood:	n/a	n/a
47	EP300	chr22:21921623-21922425	ECC-1	luminal epithelium:	n/a	n/a
48	ATF3	chr22:21921624-21922242	K562	blood:	n/a	chr22:21921934-21921943
49	PML	chr22:21921575-21923523	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr22:21920647..21924218-chr22:21994881..21998096,5	MCF-7	breast:
2	chr22:21920727..21924429-chr22:22006455..22008474,3	MCF-7	breast:
3	chr20:49546476..49548738-chr22:21921516..21923782,2	K562	blood:
4	chr22:21921535..21923886-chr22:21982326..21985629,8	MCF-7	breast:
5	chr22:21921034..21925776-chr22:21981790..21988067,8	MCF-7	breast:

Variant related genes	Relation type
UBE2L3	TF binding region
ENSG00000273342	Chromatin interaction
ENSG00000212102	Chromatin interaction
ENSG00000207751	Chromatin interaction
ENSG00000259456	Chromatin interaction
ENSG00000101126	Chromatin interaction
ENSG00000161180	Chromatin interaction
ENSG00000128228	Chromatin interaction
ENSG00000100023	Chromatin interaction
ENSG00000161179	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs12160982	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16984988	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28436610	1.00[EUR][1000 genomes]
rs55771333	1.00[EUR][1000 genomes]
rs58384889	1.00[EUR][1000 genomes]
rs5994603	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5994629	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5998534	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5998537	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5998640	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5998657	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5998662	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5998690	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5998733	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7289600	1.00[EUR][1000 genomes]
rs73384145	1.00[EUR][1000 genomes]
rs8139523	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:26 , 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	esv1801244	chr22:21509361-21924072	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	esv1813971	chr22:21711706-21924058	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
19	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
20	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
21	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
22	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
23	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
24	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
25	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
26	esv3408427	chr22:21920977-21923825	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:63 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:21910600-21921800	Weak transcription	Right Atrium	heart
2	chr22:21919200-21922000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr22:21919600-21921800	Weak transcription	Thymus	Thymus
4	chr22:21921000-21921800	Enhancers	Pancreas	Pancrea
5	chr22:21921000-21922000	Enhancers	Spleen	Spleen
6	chr22:21921400-21921800	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr22:21921400-21921800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr22:21921400-21922800	Active TSS	K562	blood
9	chr22:21921600-21921800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr22:21921600-21921800	Enhancers	Fetal Muscle Leg	muscle
11	chr22:21921600-21921800	Enhancers	Fetal Stomach	stomach
12	chr22:21921600-21921800	Enhancers	Fetal Thymus	thymus
13	chr22:21921600-21922000	Flanking Active TSS	Primary B cells from peripheral blood	blood
14	chr22:21921600-21922000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
15	chr22:21921600-21922000	Flanking Active TSS	Placenta	Placenta
16	chr22:21921600-21922200	Active TSS	HepG2	liver
17	chr22:21921600-21922400	Active TSS	Primary neutrophils fromperipheralblood	blood
18	chr22:21921600-21922400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr22:21921600-21922600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr22:21921600-21922600	Active TSS	Primary T helper cells fromperipheralblood	blood
21	chr22:21921600-21922600	Active TSS	Cortex derived primary cultured neurospheres	brain
22	chr22:21921600-21922600	Active TSS	Adipose Nuclei	Adipose
23	chr22:21921600-21922600	Active TSS	Brain Anterior Caudate	brain
24	chr22:21921600-21922600	Active TSS	Brain Inferior Temporal Lobe	brain
25	chr22:21921600-21922600	Active TSS	Brain Substantia Nigra	brain
26	chr22:21921600-21922600	Active TSS	Rectal Smooth Muscle	rectum
27	chr22:21921600-21922600	Active TSS	Skeletal Muscle Female	skeletal muscle
28	chr22:21921600-21922600	Active TSS	Stomach Smooth Muscle	stomach
29	chr22:21921600-21922600	Active TSS	Dnd41	blood
30	chr22:21921600-21922600	Active TSS	Monocytes-CD14+_RO01746	blood
31	chr22:21921600-21922800	Active TSS	Brain Angular Gyrus	brain
32	chr22:21921600-21922800	Active TSS	Brain Cingulate Gyrus	brain
33	chr22:21921600-21922800	Active TSS	Colon Smooth Muscle	Colon
34	chr22:21921600-21922800	Active TSS	Fetal Brain Female	brain
35	chr22:21921600-21922800	Active TSS	Left Ventricle	heart
36	chr22:21921600-21922800	Active TSS	Rectal Mucosa Donor 29	rectum
37	chr22:21921600-21922800	Active TSS	Skeletal Muscle Male	skeletal muscle
38	chr22:21921600-21923000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr22:21921600-21923000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr22:21921600-21923000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr22:21921600-21923000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr22:21921600-21923000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr22:21921600-21923000	Active TSS	Brain Germinal Matrix	brain
44	chr22:21921600-21923000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
45	chr22:21921600-21923000	Active TSS	Duodenum Mucosa	Duodenum
46	chr22:21921600-21923000	Active TSS	Fetal Lung	lung
47	chr22:21921600-21923200	Active TSS	Breast Myoepithelial Primary Cells	Breast
48	chr22:21921600-21923200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr22:21921600-21923200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr22:21921600-21923200	Active TSS	Fetal Kidney	kidney

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