Variant report

Variant	rs2269578
Chromosome Location	chr22:29196843-29196844
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:344)
CpG islands
(count:0)
Chromatin interactive
region (count:32)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:344 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr22:29193985-29197159	GM18505	blood:	n/a	n/a
2	POLR2A	chr22:29194786-29197108	HL-60	blood:	n/a	n/a
3	TAF1	chr22:29195944-29197092	K562	blood:	n/a	n/a
4	POLR2A	chr22:29195946-29196993	A549	lung:	n/a	n/a
5	POLR2A	chr22:29195424-29197048	SK-N-MC	brain:	n/a	n/a
6	POLR2A	chr22:29194744-29197028	HepG2	liver:	n/a	n/a
7	MAZ	chr22:29195921-29196884	K562	blood:	n/a	n/a
8	IRF3	chr22:29196534-29196852	GM12878	blood:	n/a	n/a
9	STAT5A	chr22:29196316-29197003	GM12878	blood:	n/a	chr22:29196806-29196813
10	POLR2A	chr22:29193996-29197046	GM12878	blood:	n/a	n/a
11	TAF1	chr22:29195814-29197091	ECC-1	luminal epithelium:	n/a	n/a
12	E2F4	chr22:29196487-29196915	GM12878	blood:	n/a	n/a
13	POLR2A	chr22:29194779-29197106	HUVEC	blood vessel:	n/a	n/a
14	YY1	chr22:29196335-29196959	SK-N-SH_RA	brain:	n/a	n/a
15	SIN3AK20	chr22:29195830-29196999	SK-N-SH	brain:	n/a	n/a
16	GTF2B	chr22:29196368-29197040	K562	blood:	n/a	n/a
17	YY1	chr22:29195874-29197086	SK-N-SH	brain:	n/a	n/a
18	YY1	chr22:29196151-29196920	K562	blood:	n/a	n/a
19	ATF2	chr22:29196522-29196969	H1-hESC	embryonic stem cell:	n/a	n/a
20	TAF1	chr22:29195765-29197120	H1-hESC	embryonic stem cell:	n/a	n/a
21	TBP	chr22:29195119-29197127	K562	blood:	n/a	n/a
22	POLR2A	chr22:29195222-29196956	GM12878	blood:	n/a	n/a
23	YY1	chr22:29196404-29197000	SK-N-SH	brain:	n/a	n/a
24	HEY1	chr22:29194626-29197538	HepG2	liver:	n/a	n/a
25	CHD1	chr22:29194640-29197525	IMR90	lung:	n/a	chr22:29196133-29196143
26	POLR2A	chr22:29194628-29197219	HepG2	liver:	n/a	n/a
27	MYC	chr22:29196028-29196999	H1-hESC	embryonic stem cell:	n/a	n/a
28	MAX	chr22:29195494-29196997	HepG2	liver:	n/a	n/a
29	SP1	chr22:29196291-29196898	A549	lung:	n/a	chr22:29196633-29196654 chr22:29196592-29196613
30	POLR2A	chr22:29195266-29197071	GM12878	blood:	n/a	n/a
31	TAF1	chr22:29195991-29197131	HepG2	liver:	n/a	n/a
32	SIN3A	chr22:29196337-29197101	GM12878	blood:	n/a	n/a
33	TEAD4	chr22:29196644-29197365	HepG2	liver:	n/a	n/a
34	POLR2A	chr22:29194925-29197024	GM12891	blood:	n/a	n/a
35	TAF1	chr22:29196226-29197041	A549	lung:	n/a	n/a
36	YY1	chr22:29196208-29196966	ECC-1	luminal epithelium:	n/a	n/a
37	WRNIP1	chr22:29196658-29196915	GM12878	blood:	n/a	n/a
38	REST	chr22:29196448-29196967	A549	lung:	n/a	n/a
39	PAX5	chr22:29196470-29197075	GM12878	blood:	n/a	n/a
40	MYC	chr22:29195978-29196959	NB4	blood:	n/a	n/a
41	POLR2A	chr22:29188106-29198866	HepG2	liver:	n/a	n/a
42	POLR2A	chr22:29195704-29197035	H1-hESC	embryonic stem cell:	n/a	n/a
43	POU2F2	chr22:29196186-29196989	GM12878	blood:	n/a	n/a
44	CREB1	chr22:29196286-29197083	H1-hESC	embryonic stem cell:	n/a	n/a
45	CEBPB	chr22:29196523-29196963	ECC-1	luminal epithelium:	n/a	n/a
46	HA-E2F1	chr22:29195827-29196965	MCF-7	breast:	n/a	n/a
47	POLR2A	chr22:29195778-29197088	PANC-1	pancreas:	n/a	n/a
48	POLR2A	chr22:29195954-29196846	A549	lung:	n/a	n/a
49	POLR2A	chr22:29192300-29197471	MCF10A-Er-Src	breast:	n/a	n/a
50	RXRA	chr22:29196478-29196887	HepG2	liver:	n/a	n/a

No data

(count:32 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:29137710..29139572-chr22:29196791..29200014,3	K562	blood:
2	chr17:62223683..62226380-chr22:29195239..29196857,2	MCF-7	breast:
3	chr22:29137681..29138362-chr22:29196436..29197177,2	MCF-7	breast:
4	chr15:31283081..31284688-chr22:29195568..29197954,2	MCF-7	breast:
5	chr20:55204332..55207187-chr22:29196441..29199381,2	MCF-7	breast:
6	chr14:23339686..23342366-chr22:29196248..29197948,2	MCF-7	breast:
7	chr10:15209689..15212599-chr22:29196455..29198324,2	MCF-7	breast:
8	chr11:118016321..118019019-chr22:29196202..29198424,2	MCF-7	breast:
9	chr14:36294851..36296838-chr22:29194085..29196864,2	MCF-7	breast:
10	chr22:29168270..29171327-chr22:29194850..29198169,6	MCF-7	breast:
11	chr17:59485117..59489801-chr22:29195073..29197990,4	MCF-7	breast:
12	chr22:29196262..29197234-chr3:128902188..128902727,2	Hela-S3	cervix:
13	chr22:29127658..29141630-chr22:29187451..29201381,67	MCF-7	breast:
14	chr12:52641358..52643792-chr22:29196072..29198510,2	MCF-7	breast:
15	chr22:29196303..29197150-chr3:128444857..128445542,2	Hela-S3	cervix:
16	chr20:52209239..52211054-chr22:29195471..29197965,2	MCF-7	breast:
17	chr17:79875634..79877930-chr22:29195245..29197691,2	MCF-7	breast:
18	chr22:29195813..29198298-chr4:36284011..36285845,2	MCF-7	breast:
19	chr14:67707960..67708596-chr22:29196481..29197205,2	Hela-S3	cervix:
20	chr20:19736824..19739326-chr22:29195217..29198180,3	MCF-7	breast:
21	chr22:29194663..29197354-chr22:29426484..29429608,3	K562	blood:
22	chr20:47835784..47836422-chr22:29196004..29196862,2	Hela-S3	cervix:
23	chr22:29165808..29174203-chr22:29186827..29200037,34	MCF-7	breast:
24	chr22:29167233..29170944-chr22:29195431..29200472,7	K562	blood:
25	chr22:29196449..29197081-chr5:112312184..112312841,2	HCT-116	colon:
26	chr22:29134224..29141746-chr22:29191206..29200044,27	MCF-7	breast:
27	chr10:5707879..5710257-chr22:29195153..29198012,2	MCF-7	breast:
28	chr21:44299741..44300261-chr22:29196451..29197232,2	NB4	blood:
29	chr22:29196469..29197140-chr9:86595287..86595817,2	Hela-S3	cervix:
30	chr17:65820614..65823310-chr22:29194510..29197985,3	MCF-7	breast:
31	chr22:29196345..29198539-chr8:144681842..144684762,2	MCF-7	breast:
32	chr22:29196111..29197779-chr22:29662528..29664721,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CCDC117-1	chr22:29196697-29197212	ENSG00000226471.2
2	lnc-CCDC117-1	chr22:29196562-29200517	NONHSAT084656

No data

Variant related genes	Relation type
XBP1	TF binding region
ENSG00000226471	TF binding region
ENSG00000177993	Chromatin interaction
ENSG00000075785	Chromatin interaction
ENSG00000160194	Chromatin interaction
ENSG00000170442	Chromatin interaction
ENSG00000178966	Chromatin interaction
ENSG00000183765	Chromatin interaction
ENSG00000187013	Chromatin interaction
ENSG00000100263	Chromatin interaction
ENSG00000187531	Chromatin interaction
ENSG00000166912	Chromatin interaction
ENSG00000172795	Chromatin interaction
ENSG00000152465	Chromatin interaction
ENSG00000177098	Chromatin interaction
ENSG00000100209	Chromatin interaction
ENSG00000135480	Chromatin interaction
ENSG00000268628	Chromatin interaction
ENSG00000159873	Chromatin interaction
ENSG00000171940	Chromatin interaction
ENSG00000087510	Chromatin interaction
ENSG00000182944	Chromatin interaction
ENSG00000267280	Chromatin interaction
ENSG00000124228	Chromatin interaction
ENSG00000100916	Chromatin interaction
ENSG00000258938	Chromatin interaction
ENSG00000072415	Chromatin interaction
ENSG00000233895	Chromatin interaction
ENSG00000271912	Chromatin interaction
ENSG00000197057	Chromatin interaction
ENSG00000165119	Chromatin interaction
ENSG00000121068	Chromatin interaction
ENSG00000266402	Chromatin interaction
ENSG00000171634	Chromatin interaction
ENSG00000197324	Chromatin interaction
ENSG00000169714	Chromatin interaction
ENSG00000196372	Chromatin interaction

Extended variants
information (count: 59 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs1222	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13053879	0.87[EUR][1000 genomes]
rs13056546	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13058031	0.81[EUR][1000 genomes]
rs16987024	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16987027	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2235431	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2236141	0.86[EUR][1000 genomes]
rs2267131	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2301428	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2347448	0.81[EUR][1000 genomes]
rs28458474	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2881634	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34206997	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34298044	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34573837	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34718288	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34751572	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35017742	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35050306	0.81[EUR][1000 genomes]
rs35814864	0.81[EUR][1000 genomes]
rs35829597	0.84[EUR][1000 genomes]
rs35905502	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36112964	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5752790	0.86[EUR][1000 genomes]
rs5752794	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5752796	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5752802	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5752803	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5752806	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5752811	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5752816	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5762767	0.86[EUR][1000 genomes]
rs5762774	0.86[EUR][1000 genomes]
rs5762780	0.86[EUR][1000 genomes]
rs5762794	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs5762809	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs5762812	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5762814	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5762816	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5762817	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5762818	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5762819	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5762820	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5762821	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5762822	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs5762823	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5762857	0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs59203761	0.82[EUR][1000 genomes]
rs59224170	0.82[EUR][1000 genomes]
rs60468718	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs66471734	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs71327317	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71327329	1.00[AFR][1000 genomes]
rs73170633	0.89[EUR][1000 genomes]
rs73170679	0.81[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	nsv916473	chr22:28837041-29215603	Weak transcription Bivalent Enhancer Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
2	nsv1064079	chr22:29065528-29456059	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
3	nsv834169	chr22:29095446-29303929	Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29193200-29198800	Active TSS	Thymus	Thymus
2	chr22:29193800-29198200	Active TSS	Pancreas	Pancrea
3	chr22:29194000-29197600	Active TSS	Right Ventricle	heart
4	chr22:29194000-29198200	Active TSS	Colonic Mucosa	Colon
5	chr22:29194000-29198400	Active TSS	Aorta	Aorta
6	chr22:29194200-29197000	Active TSS	Gastric	stomach
7	chr22:29194200-29197200	Active TSS	H9 Cell Line	embryonic stem cell
8	chr22:29194200-29197200	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
9	chr22:29194200-29197200	Active TSS	A549	lung
10	chr22:29194200-29197400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr22:29194200-29197600	Active TSS	Breast Myoepithelial Primary Cells	Breast
12	chr22:29194200-29197600	Active TSS	Duodenum Mucosa	Duodenum
13	chr22:29194200-29197600	Active TSS	Stomach Mucosa	stomach
14	chr22:29194200-29197800	Active TSS	HSMM	muscle
15	chr22:29194200-29197800	Active TSS	K562	blood
16	chr22:29194400-29197200	Active TSS	NHLF	lung
17	chr22:29194400-29197400	Active TSS	HMEC	breast
18	chr22:29194400-29197400	Active TSS	HSMMtube	muscle
19	chr22:29194400-29197800	Active TSS	Rectal Smooth Muscle	rectum
20	chr22:29194400-29197800	Active TSS	GM12878-XiMat	blood
21	chr22:29194400-29198600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr22:29194600-29197200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
23	chr22:29194600-29197200	Active TSS	Brain Cingulate Gyrus	brain
24	chr22:29194600-29197200	Active TSS	Lung	lung
25	chr22:29194600-29197800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr22:29194800-29197200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr22:29194800-29197200	Active TSS	Left Ventricle	heart
28	chr22:29194800-29197200	Active TSS	Sigmoid Colon	Sigmoid Colon
29	chr22:29194800-29197400	Active TSS	ES-I3 Cell Line	embryonic stem cell
30	chr22:29194800-29197400	Active TSS	HUES64 Cell Line	embryonic stem cell
31	chr22:29194800-29197400	Active TSS	iPS-15b Cell Line	embryonic stem cell
32	chr22:29194800-29197400	Active TSS	Fetal Thymus	thymus
33	chr22:29194800-29197600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr22:29194800-29197800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr22:29195000-29197200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr22:29195000-29197200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr22:29195000-29197200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr22:29195000-29197200	Active TSS	NH-A	brain
39	chr22:29195000-29197400	Active TSS	Psoas Muscle	Psoas
40	chr22:29195000-29197400	Active TSS	NHDF-Ad	bronchial
41	chr22:29195000-29197600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr22:29195000-29197600	Active TSS	Brain Anterior Caudate	brain
43	chr22:29195000-29197600	Active TSS	Fetal Intestine Small	intestine
44	chr22:29195000-29197600	Active TSS	Ovary	ovary
45	chr22:29195000-29198800	Active TSS	Pancreatic Islets	Pancreatic Islet
46	chr22:29195200-29197000	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
47	chr22:29195200-29197000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr22:29195200-29197000	Active TSS	Muscle Satellite Cultured Cells	--
49	chr22:29195200-29197000	Active TSS	HUVEC	blood vessel
50	chr22:29195200-29197200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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