Variant report

Variant	rs11705639
Chromosome Location	chr22:30831852-30831853
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:110)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:110 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr22:30831494-30832048	K562	blood:	n/a	n/a
2	CREB1	chr22:30831470-30832219	GM12878	blood:	n/a	n/a
3	GABPA	chr22:30831579-30832150	A549	lung:	n/a	n/a
4	POLR2A	chr22:30831461-30832289	SK-N-MC	brain:	n/a	n/a
5	MTA3	chr22:30831339-30832258	GM12878	blood:	n/a	n/a
6	TBL1XR1	chr22:30831586-30832005	GM12878	blood:	n/a	n/a
7	EP300	chr22:30831679-30832042	GM12878	blood:	n/a	n/a
8	CTCF	chr22:30831617-30832039	Lung_OC	lung:	n/a	n/a
9	CTCF	chr22:30831800-30831950	GM12865	blood:	n/a	n/a
10	GABPA	chr22:30831405-30832255	MCF-7	breast:	n/a	n/a
11	GABPA	chr22:30831521-30832049	GM12878	blood:	n/a	n/a
12	EGR1	chr22:30831740-30832014	K562	blood:	n/a	chr22:30831792-30831806
13	SPI1	chr22:30831767-30831942	GM12878	blood:	n/a	n/a
14	EBF1	chr22:30831576-30832077	GM12878	blood:	n/a	n/a
15	POLR2A	chr22:30831537-30832141	GM15510	blood:	n/a	n/a
16	ELF1	chr22:30831606-30831917	A549	lung:	n/a	chr22:30831810-30831823 chr22:30831747-30831760
17	CTCF	chr22:30831659-30832012	NHEK	skin:	n/a	n/a
18	POLR2A	chr22:30831496-30832229	PFSK-1	brain:	n/a	n/a
19	CTCF	chr22:30831780-30831930	GM12875	blood:	n/a	n/a
20	EBF1	chr22:30831634-30831981	GM12878	blood:	n/a	n/a
21	POLR2A	chr22:30831544-30831995	GM12878	blood:	n/a	n/a
22	CTCF	chr22:30831851-30831962	GM10248	blood:	n/a	n/a
23	GABPA	chr22:30831594-30832147	A549	lung:	n/a	n/a
24	GABPA	chr22:30831520-30832200	HL-60	blood:	n/a	n/a
25	EGR1	chr22:30831603-30832058	H1-hESC	embryonic stem cell:	n/a	chr22:30831792-30831806
26	POLR2A	chr22:30831443-30832204	GM12892	blood:	n/a	n/a
27	POLR2A	chr22:30831717-30831930	GM12878	blood:	n/a	n/a
28	POLR2A	chr22:30831687-30831971	HUVEC	blood vessel:	n/a	n/a
29	SPI1	chr22:30831641-30832043	K562	blood:	n/a	n/a
30	POLR2A	chr22:30831617-30832184	SK-N-MC	brain:	n/a	n/a
31	POLR2A	chr22:30830962-30832551	HCT-116	colon:	n/a	n/a
32	CTCF	chr22:30831651-30832035	GM12892	blood:	n/a	n/a
33	POLR2A	chr22:30831580-30832107	HUVEC	blood vessel:	n/a	n/a
34	POLR2A	chr22:30831551-30833654	HUVEC	blood vessel:	n/a	n/a
35	SETDB1	chr22:30831676-30832211	U2OS	brain:	n/a	n/a
36	MAZ	chr22:30831744-30831944	GM12878	blood:	n/a	n/a
37	GABPA	chr22:30831543-30832266	MCF-7	breast:	n/a	n/a
38	POLR2A	chr22:30831791-30831859	Gliobla	brain:	n/a	n/a
39	CTCF	chr22:30831617-30831857	K562	blood:	n/a	n/a
40	GABPA	chr22:30831600-30832047	Hela-S3	cervix:	n/a	n/a
41	POLR2A	chr22:30830926-30832470	HCT-116	colon:	n/a	n/a
42	CTCF	chr22:30831780-30831930	GM12873	blood:	n/a	n/a
43	CTCF	chr22:30831598-30832007	K562	blood:	n/a	n/a
44	CTCF	chr22:30831628-30832031	GM12878	blood:	n/a	n/a
45	ELF1	chr22:30831537-30832123	HepG2	liver:	n/a	chr22:30831810-30831823 chr22:30831747-30831760
46	CBX3	chr22:30831520-30832037	K562	blood:	n/a	n/a
47	CREB1	chr22:30831685-30832075	HepG2	liver:	n/a	n/a
48	CTCF	chr22:30831780-30831930	NHEK	skin:	n/a	n/a
49	YY1	chr22:30831573-30832048	HCT-116	colon:	n/a	n/a
50	FOXP2	chr22:30831645-30832106	SK-N-MC	brain:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:30816361..30822733-chr22:30829064..30833429,8	K562	blood:
2	chr22:30830841..30833196-chr22:30936778..30939588,2	K562	blood:
3	chr22:30831408..30832323-chr3:57678378..57678903,2	HCT-116	colon:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MTFP1-4	chr22:30831531-30832231	NONHSAT084784
2	lnc-MTFP1-4	chr22:30831531-30832234	ENSG00000273428.1

No data

Variant related genes	Relation type
ENSG00000230137	TF binding region
ENSG00000225774	Chromatin interaction
ENSG00000242114	Chromatin interaction
ENSG00000272689	Chromatin interaction
ENSG00000273350	Chromatin interaction
ENSG00000099999	Chromatin interaction
ENSG00000174839	Chromatin interaction
ENSG00000222915	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1005835	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1010324	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs11089447	0.81[AMR][1000 genomes]
rs11089448	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11089449	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11703867	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12171261	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2072160	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2267154	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2267155	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2267156	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2283870	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2283871	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2299827	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2839998	0.80[EUR][1000 genomes]
rs57940170	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs5994305	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5994306	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5997637	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs5997646	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61583714	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7288366	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7289360	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7290317	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9619105	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9620984	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829171	chr22:30598030-31043578	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers 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	66 gene(s)	inside rSNPs	diseases
2	nsv914970	chr22:30619599-30850395	Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription 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	51 gene(s)	inside rSNPs	diseases
3	nsv915818	chr22:30708245-31346302	Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30822400-30834400	Weak transcription	Small Intestine	intestine
2	chr22:30822600-30832000	Weak transcription	Duodenum Smooth Muscle	Duodenum
3	chr22:30822800-30832000	Weak transcription	Left Ventricle	heart
4	chr22:30823200-30833600	Weak transcription	Stomach Mucosa	stomach
5	chr22:30824400-30839000	Weak transcription	Hela-S3	cervix
6	chr22:30824800-30834400	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr22:30829600-30832600	Enhancers	NHEK	skin
8	chr22:30830000-30832200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr22:30830200-30832600	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr22:30830600-30832000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr22:30830800-30832000	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr22:30830800-30832000	Enhancers	K562	blood
13	chr22:30830800-30832200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr22:30830800-30832400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
15	chr22:30830800-30832800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr22:30831000-30832000	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr22:30831000-30832000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr22:30831000-30832400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
19	chr22:30831000-30832400	Enhancers	HUVEC	blood vessel
20	chr22:30831000-30832600	ZNF genes & repeats	Primary B cells from peripheral blood	blood
21	chr22:30831000-30832600	ZNF genes & repeats	Primary Natural Killer cells fromperipheralblood	blood
22	chr22:30831000-30832800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr22:30831200-30832000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr22:30831200-30832000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr22:30831200-30832000	Enhancers	Pancreas	Pancrea
26	chr22:30831200-30832400	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
27	chr22:30831200-30832400	Active TSS	Duodenum Mucosa	Duodenum
28	chr22:30831200-30832400	ZNF genes & repeats	Fetal Thymus	thymus
29	chr22:30831200-30832600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr22:30831400-30832000	Enhancers	HUES6 Cell Line	embryonic stem cell
31	chr22:30831400-30832000	Enhancers	Placenta Amnion	Placenta Amnion
32	chr22:30831400-30832200	Active TSS	Primary T cells from cord blood	blood
33	chr22:30831400-30832200	ZNF genes & repeats	Placenta	Placenta
34	chr22:30831400-30832400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
35	chr22:30831400-30832600	Enhancers	HMEC	breast
36	chr22:30831600-30832000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr22:30831600-30832000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
38	chr22:30831600-30832000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
39	chr22:30831600-30832000	Enhancers	Primary T helper naive cells from peripheral blood	blood
40	chr22:30831600-30832000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr22:30831600-30832000	Enhancers	Primary T killer memory cells from peripheral blood	blood
42	chr22:30831600-30832000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr22:30831600-30832000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr22:30831600-30832000	Enhancers	Right Atrium	heart
45	chr22:30831600-30832000	ZNF genes & repeats	Thymus	Thymus
46	chr22:30831600-30832000	Enhancers	Monocytes-CD14+_RO01746	blood
47	chr22:30831600-30832200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr22:30831600-30832200	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr22:30831600-30832200	Enhancers	Fetal Muscle Leg	muscle
50	chr22:30831600-30832200	Active TSS	Rectal Mucosa Donor 29	rectum

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