Variant report

Variant	rs9621185
Chromosome Location	chr22:31481654-31481655
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	TBP	chr22:31480264-31481833	H1-hESC	embryonic stem cell:	n/a	n/a
3	CTCF	chr22:31481625-31481699	GM19240	blood:	n/a	n/a
4	CTCF	chr22:31480880-31481752	HCT-116	colon:	n/a	chr22:31481340-31481350 chr22:31480917-31480930 chr22:31481338-31481354 chr22:31481339-31481352
5	POLR2A	chr22:31480074-31481810	GM18951	blood:	n/a	n/a
6	POLR2A	chr22:31479820-31481899	GM19099	blood:	n/a	n/a
7	POLR2A	chr22:31480215-31482031	HUVEC	blood vessel:	n/a	n/a
8	POLR2A	chr22:31479734-31481808	ECC-1	luminal epithelium:	n/a	n/a
9	RELA	chr22:31480489-31481820	GM15510	blood:	n/a	n/a
10	POU2F2	chr22:31480250-31481781	GM12878	blood:	n/a	n/a
11	EBF1	chr22:31480970-31481789	GM12878	blood:	n/a	chr22:31481519-31481530
12	POLR2A	chr22:31480621-31481941	GM12878	blood:	n/a	n/a
13	CTCF	chr22:31481651-31481660	Kidney_OC	kidney:	n/a	n/a
14	POLR2A	chr22:31479356-31482395	GM12878	blood:	n/a	n/a
15	POLR2A	chr22:31479794-31481861	GM12892	blood:	n/a	n/a
16	POLR2A	chr22:31479649-31481690	U87	brain:	n/a	n/a
17	ZNF143	chr22:31480712-31481798	H1-hESC	embryonic stem cell:	n/a	chr22:31480825-31480843 chr22:31480961-31480971 chr22:31481362-31481372 chr22:31480835-31480845
18	POLR2A	chr22:31476526-31481808	K562	blood:	n/a	n/a
19	POLR2A	chr22:31481605-31481883	H1-hESC	embryonic stem cell:	n/a	n/a
20	CTCF	chr22:31481617-31481735	GM19238	blood:	n/a	n/a
21	POLR2A	chr22:31478535-31482422	H1-hESC	embryonic stem cell:	n/a	n/a
22	CTCF	chr22:31481598-31481661	GM12892	blood:	n/a	n/a
23	MAZ	chr22:31479911-31481919	IMR90	lung:	n/a	n/a
24	SMC3	chr22:31480125-31481745	SK-N-SH	brain:	n/a	chr22:31481339-31481349 chr22:31481339-31481353
25	CTCF	chr22:31481640-31481790	GM12866	blood:	n/a	n/a
26	RAD21	chr22:31480116-31481824	SK-N-SH	brain:	n/a	chr22:31480363-31480375 chr22:31481337-31481349 chr22:31480977-31480991 chr22:31481339-31481349
27	CHD2	chr22:31480012-31481830	GM12878	blood:	n/a	n/a
28	CTCF	chr22:31481584-31481679	GM19239	blood:	n/a	n/a
29	ELF1	chr22:31480010-31481681	GM12878	blood:	n/a	chr22:31481012-31481025 chr22:31481013-31481022
30	YY1	chr22:31480483-31481679	GM12878	blood:	n/a	chr22:31481020-31481034 chr22:31481286-31481300 chr22:31480841-31480851 chr22:31481292-31481301
31	RAD21	chr22:31480765-31481716	HCT-116	colon:	n/a	chr22:31481337-31481349 chr22:31480977-31480991 chr22:31481339-31481349
32	POLR2A	chr22:31479792-31481684	U87	brain:	n/a	n/a
33	POLR2A	chr22:31480549-31481775	HUVEC	blood vessel:	n/a	n/a
34	ZBTB7A	chr22:31480550-31481760	ECC-1	luminal epithelium:	n/a	chr22:31481338-31481347
35	MAX	chr22:31480061-31481938	HCT-116	colon:	n/a	n/a
36	POLR2A	chr22:31479922-31482025	K562	blood:	n/a	n/a
37	RAD21	chr22:31480788-31481754	HCT-116	colon:	n/a	chr22:31481337-31481349 chr22:31480977-31480991 chr22:31481339-31481349
38	POLR2A	chr22:31476665-31481886	IMR90	lung:	n/a	n/a
39	POLR2A	chr22:31478954-31482015	GM12892	blood:	n/a	n/a
40	POLR2A	chr22:31479046-31482278	GM12878	blood:	n/a	n/a
41	POLR2A	chr22:31480011-31481891	H1-hESC	embryonic stem cell:	n/a	n/a
42	POLR2A	chr22:31479980-31481789	GM12878	blood:	n/a	n/a
43	POLR2A	chr22:31479971-31481806	GM12892	blood:	n/a	n/a
44	YY1	chr22:31480444-31481735	GM12892	blood:	n/a	chr22:31481020-31481034 chr22:31481286-31481300 chr22:31480841-31480851 chr22:31481292-31481301
45	POLR2A	chr22:31481574-31481783	H1-hESC	embryonic stem cell:	n/a	n/a
46	ZNF143	chr22:31480678-31481773	GM12878	blood:	n/a	chr22:31480825-31480843 chr22:31480696-31480706 chr22:31480961-31480971 chr22:31481362-31481372 chr22:31480835-31480845
47	CTCF	chr22:31480072-31482631	SK-N-SH	brain:	n/a	chr22:31481340-31481350 chr22:31480917-31480930 chr22:31481338-31481354 chr22:31481339-31481352
48	MTA3	chr22:31479865-31481755	GM12878	blood:	n/a	n/a
49	CTCF	chr22:31481626-31481781	GM12891	blood:	n/a	n/a
50	POLR2A	chr22:31480229-31481783	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr22:31476077..31485695-chr22:31490616..31506508,29	K562	blood:
2	chr22:31360911..31371148-chr22:31475052..31483145,24	K562	blood:
3	chr22:31360045..31368675-chr22:31475412..31482694,29	K562	blood:
4	chr22:31479621..31482894-chr22:31624206..31627128,3	K562	blood:
5	chr22:31372163..31374495-chr22:31479554..31481845,2	K562	blood:
6	chr22:31455769..31462183-chr22:31475245..31482356,13	K562	blood:
7	chr22:31342107..31344742-chr22:31481093..31483316,2	K562	blood:
8	chr22:31354949..31372607-chr22:31475365..31485377,53	MCF-7	breast:
9	chr22:31458274..31462644-chr22:31476246..31482425,10	K562	blood:
10	chr22:31358868..31372302-chr22:31474097..31485545,64	MCF-7	breast:
11	chr22:31479603..31481698-chr22:31522433..31524015,2	MCF-7	breast:
12	chr22:31479652..31482728-chr22:31500685..31503831,4	MCF-7	breast:
13	chr22:31478816..31484481-chr22:31493390..31497944,7	MCF-7	breast:
14	chr22:31336067..31338299-chr22:31480944..31483823,2	MCF-7	breast:
15	chr22:31352727..31355658-chr22:31478045..31481685,3	MCF-7	breast:

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

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

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs1004243	0.91[CEU][hapmap];0.91[YRI][hapmap];0.92[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs11089487	0.84[CEU][hapmap];0.83[AMR][1000 genomes]
rs11089488	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11089489	0.84[AFR][1000 genomes]
rs11703403	0.84[AFR][1000 genomes]
rs11703478	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11705137	1.00[CHB][hapmap];0.81[YRI][hapmap];0.86[AFR][1000 genomes]
rs12167220	1.00[CHB][hapmap];0.81[YRI][hapmap];0.86[AFR][1000 genomes]
rs12330010	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12484046	0.95[CEU][hapmap];0.85[EUR][1000 genomes]
rs13053329	0.86[AFR][1000 genomes]
rs13054770	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1558023	0.96[CEU][hapmap];0.88[EUR][1000 genomes]
rs1807739	0.86[AFR][1000 genomes]
rs2017301	1.00[CHB][hapmap]
rs2079429	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35413173	0.89[ASN][1000 genomes]
rs35657209	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35685997	0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4281997	0.95[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs4820934	0.92[CEU][hapmap];0.83[YRI][hapmap];0.95[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4820938	1.00[CHB][hapmap];0.80[AFR][1000 genomes]
rs4820939	0.82[AFR][1000 genomes]
rs4820940	1.00[CHB][hapmap];0.83[YRI][hapmap];0.86[AFR][1000 genomes]
rs4820941	0.86[AFR][1000 genomes]
rs62236159	0.89[ASN][1000 genomes]
rs7284108	0.96[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7284757	0.95[CEU][hapmap];0.90[EUR][1000 genomes]
rs7285617	0.92[CEU][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs737930	0.96[CEU][hapmap];0.90[YRI][hapmap];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8135353	0.96[CEU][hapmap];1.00[CHB][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8137317	0.87[ASN][1000 genomes]
rs9619163	0.96[CEU][hapmap];0.87[EUR][1000 genomes]
rs9621173	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9621178	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9621184	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9621187	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs9621188	1.00[CHB][hapmap];0.81[YRI][hapmap];0.86[AFR][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:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31477800-31482000	Flanking Active TSS	NH-A	brain
2	chr22:31478000-31481800	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
3	chr22:31478000-31482200	Transcr. at gene 5' and 3'	Fetal Stomach	stomach
4	chr22:31478200-31483400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr22:31478400-31481800	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
6	chr22:31478400-31484000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr22:31478400-31484000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr22:31478600-31481800	Active TSS	iPS-15b Cell Line	embryonic stem cell
9	chr22:31478600-31483200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr22:31478800-31482600	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr22:31479400-31481800	Active TSS	Aorta	Aorta
12	chr22:31479800-31481800	Active TSS	HUES64 Cell Line	embryonic stem cell
13	chr22:31479800-31482000	Enhancers	Fetal Brain Male	brain
14	chr22:31480000-31481800	Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr22:31480000-31481800	Active TSS	H9 Cell Line	embryonic stem cell
16	chr22:31480200-31481800	Active TSS	iPS-20b Cell Line	embryonic stem cell
17	chr22:31480200-31481800	Active TSS	Fetal Kidney	kidney
18	chr22:31480200-31481800	Flanking Active TSS	Dnd41	blood
19	chr22:31480400-31481800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr22:31480600-31481800	Active TSS	HUES48 Cell Line	embryonic stem cell
21	chr22:31480600-31481800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr22:31480600-31481800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr22:31480600-31481800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr22:31480600-31481800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr22:31480600-31481800	Active TSS	Brain Anterior Caudate	brain
26	chr22:31480600-31481800	Active TSS	Rectal Mucosa Donor 29	rectum
27	chr22:31480600-31481800	Active TSS	Rectal Smooth Muscle	rectum
28	chr22:31480600-31481800	Active TSS	HSMM	muscle
29	chr22:31480600-31482000	Active TSS	Colon Smooth Muscle	Colon
30	chr22:31481000-31481800	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr22:31481000-31481800	Weak transcription	HepG2	liver
32	chr22:31481000-31481800	Flanking Active TSS	HMEC	breast
33	chr22:31481000-31482000	Flanking Active TSS	Colonic Mucosa	Colon
34	chr22:31481000-31482000	Flanking Active TSS	Stomach Smooth Muscle	stomach
35	chr22:31481000-31482400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
36	chr22:31481000-31484800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr22:31481200-31481800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr22:31481200-31482000	Flanking Active TSS	Adipose Nuclei	Adipose
39	chr22:31481200-31482000	Flanking Active TSS	Right Ventricle	heart
40	chr22:31481200-31482600	Enhancers	Fetal Heart	heart
41	chr22:31481400-31481800	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr22:31481400-31481800	Flanking Active TSS	Primary hematopoietic stem cells	blood
43	chr22:31481400-31481800	Enhancers	Primary T helper naive cells from peripheral blood	blood
44	chr22:31481400-31481800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
45	chr22:31481400-31481800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
46	chr22:31481400-31481800	Flanking Active TSS	Muscle Satellite Cultured Cells	--
47	chr22:31481400-31481800	Flanking Active TSS	Brain Germinal Matrix	brain
48	chr22:31481400-31481800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
49	chr22:31481400-31481800	Transcr. at gene 5' and 3'	Fetal Muscle Leg	muscle
50	chr22:31481400-31481800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum

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