Variant report

Variant	rs12167726
Chromosome Location	chr22:32808826-32808827
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:61)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HCFC1	chr22:32807542-32808919	Hela-S3	cervix:	n/a	n/a
2	MXI1	chr22:32807144-32808972	SK-N-SH	brain:	n/a	n/a
3	TCF7L2	chr22:32807027-32808862	HEK293	kidney:	n/a	chr22:32808175-32808189 chr22:32807213-32807220

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:32808786-32808836	HRCEpiC	kidney:	n/a
2	chr22:32808786-32808836	HAEpiC	amniotic membrane:	n/a
3	chr22:32808786-32808836	PrEC	prostate:	n/a
4	chr22:32808786-32808836	HRPEpiC	eye:	n/a
5	chr22:32808786-32808836	HUVEC	blood vessel:	n/a
6	chr22:32808786-32808836	HNPCEpiC	eye:	n/a
7	chr22:32808786-32808836	GM12878	blood:	n/a
8	chr22:32808786-32808836	HCF	heart:	n/a
9	chr22:32808786-32808836	ECC-1	luminal epithelium:	n/a
10	chr22:32808786-32808836	Caco-2	colon:	n/a
11	chr22:32808786-32808836	Jurkat	blood:	n/a
12	chr22:32808786-32808836	AG04450	lung:	fetal
13	chr22:32808786-32808836	HL-60	blood:	n/a
14	chr22:32808786-32808836	SAEC	small airway:	n/a
15	chr22:32808786-32808836	IMR90	lung:	fetal
16	chr22:32808786-32808836	HPAEpiC	pulmonary alveolar:	n/a
17	chr22:32808786-32808836	GM06990	blood:	n/a
18	chr22:32808786-32808836	PFSK-1	brain:	n/a
19	chr22:32808786-32808836	SK-N-MC	brain:	n/a
20	chr22:32808786-32808836	HEEpiC	esophagus:	n/a
21	chr22:32808786-32808836	GM19239	blood:	n/a
22	chr22:32808786-32808836	AG10803	skin:	n/a
23	chr22:32808786-32808836	NHBE	bronchial:	n/a
24	chr22:32808786-32808836	ProgFib	skin:	n/a
25	chr22:32808786-32808836	U87	brain:	n/a
26	chr22:32808786-32808836	H1-hESC	embryonic stem cell:	embryo
27	chr22:32808786-32808836	HCPEpiC	choroid plexus:	n/a
28	chr22:32808786-32808836	Hepatocyte	liver:	n/a
29	chr22:32808786-32808836	AoSMC	blood vessel:	n/a
30	chr22:32808786-32808836	PANC-1	pancreas:	n/a
31	chr22:32808786-32808836	CMK	blood:	n/a
32	chr22:32808786-32808836	HepG2	liver:	n/a
33	chr22:32808786-32808836	SK-N-SH	brain:	n/a
34	chr22:32808786-32808836	AG09319	gingival:	n/a
35	chr22:32808786-32808836	T-47D	breast:	n/a
36	chr22:32808786-32808836	MCF10A-Er-Src	breast:	n/a
37	chr22:32808786-32808836	A549	lung:	n/a
38	chr22:32808786-32808836	NH-A	brain:	n/a
39	chr22:32808786-32808836	MCF-7	breast:	n/a
40	chr22:32808786-32808836	HIPEpiC	eye:	n/a
41	chr22:32808786-32808836	ovcar-3	ovarian:	n/a
42	chr22:32808786-32808836	HRE	kidney:	n/a
43	chr22:32808786-32808836	HEK293	kidney:	embryo
44	chr22:32808786-32808836	AG09309	skin:	n/a
45	chr22:32808786-32808836	NT2-D1	testis:	n/a
46	chr22:32808786-32808836	BJ	skin:	n/a
47	chr22:32808786-32808836	NHDF-neo	bronchial:	n/a
48	chr22:32808786-32808836	SK-N-SH_RA	brain:	n/a
49	chr22:32808786-32808836	AG04449	skin:	fetal
50	chr22:32808786-32808836	RPTEC	kidney:	n/a

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:32806505..32810377-chr22:32871743..32874140,3	K562	blood:
2	chr22:32803479..32806391-chr22:32807402..32809274,3	MCF-7	breast:
3	chr22:32802183..32805062-chr22:32805761..32809013,3	MCF-7	breast:
4	chr22:32778843..32780459-chr22:32807463..32809458,2	K562	blood:
5	chr22:32807562..32810232-chr22:32869269..32871220,2	K562	blood:
6	chr22:32806622..32809672-chr22:32869373..32872144,4	MCF-7	breast:

No data

Variant related genes	Relation type
RTCB	TF binding region
RTCB	CpG island
ENSG00000100225	Chromatin interaction
ENSG00000241954	Chromatin interaction
ENSG00000100220	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1009401	1.00[CHB][hapmap]
rs11545749	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11703546	1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[ASN][1000 genomes]
rs16990408	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16990443	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs16990445	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs28783498	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35856742	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55807703	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56028423	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56034165	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5998418	1.00[ASN][1000 genomes]
rs5998424	1.00[ASN][1000 genomes]
rs5998473	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];1.00[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.93[YRI][hapmap];0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61095402	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67688485	0.84[EUR][1000 genomes]
rs67737467	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67967684	0.89[EUR][1000 genomes]
rs68016118	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68023238	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68125825	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73166344	1.00[ASN][1000 genomes]
rs73166353	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73166400	0.98[EUR][1000 genomes]
rs73168708	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73168732	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73170304	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73170321	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9619261	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs9621435	1.00[ASW][hapmap];0.82[CEU][hapmap];0.91[LWK][hapmap];0.86[MEX][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs9621436	0.83[AFR][1000 genomes];0.88[AMR][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	nsv459874	chr22:32574274-32866934	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
2	nsv588895	chr22:32574274-32866934	Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
3	nsv1064737	chr22:32603912-32829725	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
4	nsv1066118	chr22:32779078-32815334	Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv1055701	chr22:32806595-32845403	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:32806600-32809000	Active TSS	HUES6 Cell Line	embryonic stem cell
2	chr22:32807400-32809000	Active TSS	Skeletal Muscle Male	skeletal muscle
3	chr22:32807400-32809200	Active TSS	Stomach Smooth Muscle	stomach
4	chr22:32807600-32809000	Active TSS	Brain Cingulate Gyrus	brain
5	chr22:32807600-32809000	Active TSS	Rectal Mucosa Donor 29	rectum
6	chr22:32807600-32809200	Active TSS	Brain Substantia Nigra	brain
7	chr22:32807600-32809200	Active TSS	Duodenum Smooth Muscle	Duodenum
8	chr22:32808200-32818000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr22:32808400-32809000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr22:32808400-32809000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
11	chr22:32808400-32809000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
12	chr22:32808400-32818000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr22:32808600-32809000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr22:32808600-32809000	Enhancers	Primary T cells fromperipheralblood	blood
15	chr22:32808600-32809000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
16	chr22:32808600-32809000	Enhancers	Primary T killer memory cells from peripheral blood	blood
17	chr22:32808600-32809000	Flanking Active TSS	Brain Anterior Caudate	brain
18	chr22:32808600-32809000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
19	chr22:32808600-32809000	Flanking Active TSS	Duodenum Mucosa	Duodenum
20	chr22:32808600-32809000	Enhancers	Fetal Intestine Large	intestine
21	chr22:32808600-32809000	Enhancers	Fetal Intestine Small	intestine
22	chr22:32808600-32809000	Flanking Active TSS	Fetal Lung	lung
23	chr22:32808600-32809000	Enhancers	Thymus	Thymus
24	chr22:32808600-32809000	Flanking Active TSS	HepG2	liver
25	chr22:32808600-32809000	Enhancers	HMEC	breast
26	chr22:32808600-32809000	Enhancers	NH-A	brain
27	chr22:32808600-32809000	Enhancers	NHEK	skin
28	chr22:32808600-32809200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
29	chr22:32808600-32810000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr22:32808800-32809000	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr22:32808800-32809000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
32	chr22:32808800-32809000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr22:32808800-32809000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr22:32808800-32809000	Enhancers	Colon Smooth Muscle	Colon
35	chr22:32808800-32809000	Enhancers	Psoas Muscle	Psoas
36	chr22:32808800-32809000	Enhancers	A549	lung
37	chr22:32808800-32809000	Enhancers	Dnd41	blood
38	chr22:32808800-32809000	Active TSS	GM12878-XiMat	blood
39	chr22:32808800-32809200	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr22:32808800-32809200	Enhancers	Primary T helper cells PMA-I stimulated	--
41	chr22:32808800-32809200	Enhancers	Liver	Liver
42	chr22:32808800-32809200	Enhancers	Rectal Smooth Muscle	rectum
43	chr22:32808800-32809200	Enhancers	K562	blood
44	chr22:32808800-32809400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
45	chr22:32808800-32809400	Enhancers	Primary T helper cells fromperipheralblood	blood
46	chr22:32808800-32810000	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr22:32808800-32810000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr22:32808800-32810000	Weak transcription	Primary B cells from peripheral blood	blood
49	chr22:32808800-32810000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr22:32808800-32810000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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