Variant report

Variant	rs73156781
Chromosome Location	chr22:31480195-31480196
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	POLR2A	chr22:31479737-31481842	GM12891	blood:	n/a	n/a
2	YY1	chr22:31480186-31481259	SK-N-SH	brain:	n/a	chr22:31481020-31481034 chr22:31480841-31480851
3	POLR2A	chr22:31480074-31481810	GM18951	blood:	n/a	n/a
4	POLR2A	chr22:31479820-31481899	GM19099	blood:	n/a	n/a
5	POLR2A	chr22:31476756-31481293	K562	blood:	n/a	n/a
6	POLR2A	chr22:31479572-31481607	GM18505	blood:	n/a	n/a
7	POLR2A	chr22:31479734-31481808	ECC-1	luminal epithelium:	n/a	n/a
8	POLR2A	chr22:31478173-31481418	K562	blood:	n/a	n/a
9	POLR2A	chr22:31479356-31482395	GM12878	blood:	n/a	n/a
10	POLR2A	chr22:31479794-31481861	GM12892	blood:	n/a	n/a
11	POLR2A	chr22:31479649-31481690	U87	brain:	n/a	n/a
12	POLR2A	chr22:31476526-31481808	K562	blood:	n/a	n/a
13	POLR2A	chr22:31478535-31482422	H1-hESC	embryonic stem cell:	n/a	n/a
14	EBF1	chr22:31480175-31480552	GM12878	blood:	n/a	n/a
15	TAF1	chr22:31480187-31481470	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr22:31480033-31481546	K562	blood:	n/a	n/a
17	MAZ	chr22:31479911-31481919	IMR90	lung:	n/a	n/a
18	SMC3	chr22:31480125-31481745	SK-N-SH	brain:	n/a	chr22:31481339-31481349 chr22:31481339-31481353
19	RAD21	chr22:31480116-31481824	SK-N-SH	brain:	n/a	chr22:31480363-31480375 chr22:31481337-31481349 chr22:31480977-31480991 chr22:31481339-31481349
20	CHD2	chr22:31480012-31481830	GM12878	blood:	n/a	n/a
21	POLR2A	chr22:31479968-31480277	GM12878	blood:	n/a	n/a
22	POLR2A	chr22:31479075-31481576	GM12892	blood:	n/a	n/a
23	POLR2A	chr22:31479950-31481334	K562	blood:	n/a	n/a
24	POLR2A	chr22:31479968-31480210	GM12878	blood:	n/a	n/a
25	ELF1	chr22:31480010-31481681	GM12878	blood:	n/a	chr22:31481012-31481025 chr22:31481013-31481022
26	SPI1	chr22:31479498-31480205	GM12878	blood:	n/a	n/a
27	POLR2A	chr22:31479792-31481684	U87	brain:	n/a	n/a
28	MAX	chr22:31480061-31481938	HCT-116	colon:	n/a	n/a
29	POLR2A	chr22:31479221-31481588	Raji	blood:	n/a	n/a
30	POLR2A	chr22:31479922-31482025	K562	blood:	n/a	n/a
31	POLR2A	chr22:31480140-31481426	Hela-S3	cervix:	n/a	n/a
32	POLR2A	chr22:31476665-31481886	IMR90	lung:	n/a	n/a
33	POLR2A	chr22:31478954-31482015	GM12892	blood:	n/a	n/a
34	POLR2A	chr22:31479046-31482278	GM12878	blood:	n/a	n/a
35	POLR2A	chr22:31480011-31481891	H1-hESC	embryonic stem cell:	n/a	n/a
36	POLR2A	chr22:31479980-31481789	GM12878	blood:	n/a	n/a
37	POLR2A	chr22:31479971-31481806	GM12892	blood:	n/a	n/a
38	MAZ	chr22:31480140-31481537	K562	blood:	n/a	n/a
39	CTCF	chr22:31480072-31482631	SK-N-SH	brain:	n/a	chr22:31481340-31481350 chr22:31480917-31480930 chr22:31481338-31481354 chr22:31481339-31481352
40	MTA3	chr22:31479865-31481755	GM12878	blood:	n/a	n/a
41	SRF	chr22:31479898-31481592	HCT-116	colon:	n/a	chr22:31480936-31480949 chr22:31480933-31480947 chr22:31480937-31480951 chr22:31480934-31480948 chr22:31480934-31480951 chr22:31480937-31480948 chr22:31480936-31480947 chr22:31480936-31480949 chr22:31480937-31480954 chr22:31480933-31480948 chr22:31480935-31480950 chr22:31480938-31480947 chr22:31480938-31480952 chr22:31480938-31480949 chr22:31480934-31480952
42	POLR2A	chr22:31479683-31481817	Hela-S3	cervix:	n/a	n/a
43	HEY1	chr22:31479895-31480257	K562	blood:	n/a	n/a
44	MXI1	chr22:31479806-31481868	IMR90	lung:	n/a	n/a
45	MXI1	chr22:31479991-31482030	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr22:31478916..31481331-chr22:31687005..31689174,2	K562	blood:
2	chr22:31476077..31485695-chr22:31490616..31506508,29	K562	blood:
3	chr22:31480171..31480840-chr5:10249785..10250547,2	Hela-S3	cervix:
4	chr22:31479541..31481493-chr22:31501222..31503741,4	MCF-7	breast:
5	chr22:31360911..31371148-chr22:31475052..31483145,24	K562	blood:
6	chr22:31360045..31368675-chr22:31475412..31482694,29	K562	blood:
7	chr22:31479621..31482894-chr22:31624206..31627128,3	K562	blood:
8	chr22:31372163..31374495-chr22:31479554..31481845,2	K562	blood:
9	chr22:31455769..31462183-chr22:31475245..31482356,13	K562	blood:
10	chr22:31354949..31372607-chr22:31475365..31485377,53	MCF-7	breast:
11	chr22:31458274..31462644-chr22:31476246..31482425,10	K562	blood:
12	chr22:31455775..31461842-chr22:31476267..31480955,13	MCF-7	breast:
13	chr22:31358868..31372302-chr22:31474097..31485545,64	MCF-7	breast:
14	chr22:31479603..31481698-chr22:31522433..31524015,2	MCF-7	breast:
15	chr22:31479652..31482728-chr22:31500685..31503831,4	MCF-7	breast:
16	chr22:31478816..31484481-chr22:31493390..31497944,7	MCF-7	breast:
17	chr22:31478371..31481367-chr22:31500336..31503939,6	K562	blood:
18	chr22:31373276..31374979-chr22:31479214..31481551,2	MCF-7	breast:
19	chr22:31352727..31355658-chr22:31478045..31481685,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000273387	TF binding region
SMTN	TF binding region
ENSG00000150756	Chromatin interaction
ENSG00000269987	Chromatin interaction
ENSG00000240186	Chromatin interaction
ENSG00000228839	Chromatin interaction
ENSG00000150753	Chromatin interaction
ENSG00000198832	Chromatin interaction
ENSG00000185133	Chromatin interaction
ENSG00000202019	Chromatin interaction
ENSG00000269972	Chromatin interaction
ENSG00000253352	Chromatin interaction
ENSG00000183963	Chromatin interaction
ENSG00000100100	Chromatin interaction
ENSG00000133422	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12485186	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1990125	1.00[ASN][1000 genomes]
rs2413016	1.00[ASN][1000 genomes]
rs4820933	1.00[ASN][1000 genomes]
rs56017492	1.00[ASN][1000 genomes]
rs5753446	1.00[ASN][1000 genomes]
rs73156787	1.00[AFR][1000 genomes];0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73156792	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73156799	0.87[ASN][1000 genomes]
rs917208	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv9896	chr22:31369204-31513933	Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
2	nsv829173	chr22:31450043-31543956	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv914975	chr22:31466083-31514477	Active TSS Flanking Active TSS Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	nsv914976	chr22:31475307-31543260	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
5	nsv914977	chr22:31477563-31514477	Genic enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 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	chr22:31476600-31480400	Active TSS	Brain Angular Gyrus	brain
2	chr22:31477000-31481600	Active TSS	Psoas Muscle	Psoas
3	chr22:31477400-31480800	Flanking Active TSS	Adipose Nuclei	Adipose
4	chr22:31477600-31480600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
5	chr22:31477600-31480600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
6	chr22:31477600-31480600	Flanking Active TSS	Hela-S3	cervix
7	chr22:31477800-31480200	Enhancers	Primary T cells fromperipheralblood	blood
8	chr22:31477800-31480200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr22:31477800-31480200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr22:31477800-31480200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
11	chr22:31477800-31480400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr22:31477800-31480600	Flanking Active TSS	Duodenum Mucosa	Duodenum
13	chr22:31477800-31480800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
14	chr22:31477800-31482000	Flanking Active TSS	NH-A	brain
15	chr22:31478000-31480200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
16	chr22:31478000-31480200	Flanking Active TSS	HSMMtube	muscle
17	chr22:31478000-31480600	Transcr. at gene 5' and 3'	Fetal Muscle Leg	muscle
18	chr22:31478000-31481800	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
19	chr22:31478000-31482200	Transcr. at gene 5' and 3'	Fetal Stomach	stomach
20	chr22:31478200-31480200	Enhancers	Fetal Heart	heart
21	chr22:31478200-31480600	Flanking Active TSS	Colon Smooth Muscle	Colon
22	chr22:31478200-31480600	Transcr. at gene 5' and 3'	NHLF	lung
23	chr22:31478200-31483400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr22:31478400-31480200	Enhancers	Placenta Amnion	Placenta Amnion
25	chr22:31478400-31480200	Enhancers	Thymus	Thymus
26	chr22:31478400-31480600	Flanking Active TSS	Colonic Mucosa	Colon
27	chr22:31478400-31480600	Flanking Active TSS	HSMM	muscle
28	chr22:31478400-31480800	Transcr. at gene 5' and 3'	NHEK	skin
29	chr22:31478400-31481800	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr22:31478400-31484000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr22:31478400-31484000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr22:31478600-31480200	Enhancers	Fetal Thymus	thymus
33	chr22:31478600-31480400	Enhancers	Sigmoid Colon	Sigmoid Colon
34	chr22:31478600-31481800	Active TSS	iPS-15b Cell Line	embryonic stem cell
35	chr22:31478600-31483200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr22:31478800-31480200	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr22:31478800-31480400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr22:31478800-31480600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr22:31478800-31480600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
40	chr22:31478800-31480600	Transcr. at gene 5' and 3'	Fetal Adrenal Gland	Adrenal Gland
41	chr22:31478800-31480600	Transcr. at gene 5' and 3'	Stomach Smooth Muscle	stomach
42	chr22:31478800-31480800	Transcr. at gene 5' and 3'	Fetal Muscle Trunk	muscle
43	chr22:31478800-31482600	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr22:31479000-31480400	Transcr. at gene 5' and 3'	NHDF-Ad	bronchial
45	chr22:31479000-31480600	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
46	chr22:31479000-31480600	Flanking Active TSS	Rectal Smooth Muscle	rectum
47	chr22:31479000-31480600	Flanking Active TSS	Right Atrium	heart
48	chr22:31479000-31480600	Transcr. at gene 5' and 3'	HMEC	breast
49	chr22:31479200-31480200	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr22:31479200-31480200	Transcr. at gene 5' and 3'	Dnd41	blood

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