Variant report

Variant	rs8141993
Chromosome Location	chr22:28315971-28315972
allele	C/G
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	TAF1	chr22:28314987-28316393	H1-hESC	embryonic stem cell:	n/a	n/a
2	MXI1	chr22:28314297-28316314	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr22:28314286-28316127	GM12891	blood:	n/a	n/a
4	TBP	chr22:28315018-28316379	GM12878	blood:	n/a	n/a
5	POLR2A	chr22:28314871-28316467	GM12878	blood:	n/a	n/a
6	POLR2A	chr22:28314826-28316650	HUVEC	blood vessel:	n/a	n/a
7	POLR2A	chr22:28315929-28316243	H1-hESC	embryonic stem cell:	n/a	n/a
8	MAX	chr22:28314186-28316063	ECC-1	luminal epithelium:	n/a	chr22:28314497-28314510 chr22:28314497-28314507 chr22:28314501-28314508 chr22:28314497-28314510 chr22:28314495-28314510 chr22:28315026-28315036 chr22:28314497-28314512 chr22:28314905-28314914 chr22:28314498-28314509 chr22:28314498-28314509 chr22:28314498-28314508 chr22:28314497-28314510 chr22:28314499-28314508
9	ZNF263	chr22:28315291-28316402	HEK293-T-REx	kidney:	n/a	n/a
10	POLR2A	chr22:28314805-28316269	PFSK-1	brain:	n/a	n/a
11	KAP1	chr22:28315472-28316499	HEK293	kidney:	n/a	n/a
12	MXI1	chr22:28314293-28316147	HepG2	liver:	n/a	n/a
13	MAX	chr22:28315038-28316066	MCF-7	breast:	n/a	n/a
14	POLR2A	chr22:28314460-28316375	Hela-S3	cervix:	n/a	n/a
15	TAF1	chr22:28315900-28316381	PFSK-1	brain:	n/a	n/a
16	RCOR1	chr22:28315162-28316403	K562	blood:	n/a	n/a
17	POLR2A	chr22:28314924-28316380	Hela-S3	cervix:	n/a	n/a
18	CHD2	chr22:28314389-28316322	GM12878	blood:	n/a	n/a
19	WRNIP1	chr22:28315549-28316101	GM12878	blood:	n/a	n/a
20	SIN3A	chr22:28314004-28316383	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr22:28314272-28316270	GM19193	blood:	n/a	n/a
22	TBP	chr22:28315950-28316397	Hela-S3	cervix:	n/a	n/a
23	CREB1	chr22:28314909-28316088	HepG2	liver:	n/a	n/a
24	EBF1	chr22:28315250-28316126	GM12878	blood:	n/a	n/a
25	TAF1	chr22:28315409-28316001	H1-neurons	neurons:	n/a	n/a
26	POLR2A	chr22:28315353-28316058	GM12891	blood:	n/a	n/a
27	HCFC1	chr22:28314278-28316374	Hela-S3	cervix:	n/a	n/a
28	POLR2A	chr22:28314467-28316052	GM12878	blood:	n/a	n/a
29	TFAP2A	chr22:28315280-28316262	Hela-S3	cervix:	n/a	n/a
30	ZKSCAN1	chr22:28315212-28316208	Hela-S3	cervix:	n/a	n/a
31	POLR2A	chr22:28314498-28316356	H1-neurons	neurons:	n/a	n/a
32	BHLHE40	chr22:28315214-28316080	K562	blood:	n/a	n/a
33	TAF1	chr22:28314939-28316206	H1-neurons	neurons:	n/a	n/a
34	MAX	chr22:28314145-28316178	GM12878	blood:	n/a	chr22:28314497-28314510 chr22:28314497-28314507 chr22:28314501-28314508 chr22:28314497-28314510 chr22:28314495-28314510 chr22:28315026-28315036 chr22:28314497-28314512 chr22:28314905-28314914 chr22:28314498-28314509 chr22:28314498-28314509 chr22:28314498-28314508 chr22:28314497-28314510 chr22:28314499-28314508
35	POLR2A	chr22:28314737-28316509	PFSK-1	brain:	n/a	n/a
36	MAX	chr22:28314185-28316416	A549	lung:	n/a	chr22:28314497-28314510 chr22:28314497-28314507 chr22:28314501-28314508 chr22:28314497-28314510 chr22:28314495-28314510 chr22:28315026-28315036 chr22:28314497-28314512 chr22:28314905-28314914 chr22:28314498-28314509 chr22:28314498-28314509 chr22:28314498-28314508 chr22:28314497-28314510 chr22:28314499-28314508
37	MYC	chr22:28314309-28316364	MCF10A-Er-Src	breast:	n/a	chr22:28314497-28314510 chr22:28314497-28314507 chr22:28314501-28314508 chr22:28314497-28314510 chr22:28314495-28314510 chr22:28315026-28315036 chr22:28314497-28314512 chr22:28314905-28314914 chr22:28314498-28314509 chr22:28314498-28314509 chr22:28314498-28314508 chr22:28314497-28314510 chr22:28314499-28314508
38	RELA	chr22:28314398-28316534	GM10847	blood:	n/a	n/a
39	POLR2A	chr22:28314990-28316267	HCT-116	colon:	n/a	n/a
40	MAX	chr22:28314257-28315971	K562	blood:	n/a	chr22:28314497-28314510 chr22:28314497-28314507 chr22:28314501-28314508 chr22:28314497-28314510 chr22:28314495-28314510 chr22:28315026-28315036 chr22:28314497-28314512 chr22:28314905-28314914 chr22:28314498-28314509 chr22:28314498-28314509 chr22:28314498-28314508 chr22:28314497-28314510 chr22:28314499-28314508
41	POLR2A	chr22:28314347-28316440	Hela-S3	cervix:	n/a	n/a
42	TBP	chr22:28315132-28316307	H1-hESC	embryonic stem cell:	n/a	n/a
43	RCOR1	chr22:28314985-28316442	Hela-S3	cervix:	n/a	n/a
44	POLR2A	chr22:28315853-28316365	SK-N-SH	brain:	n/a	n/a
45	POLR2A	chr22:28315874-28316432	U87	brain:	n/a	n/a
46	MAX	chr22:28314301-28316075	NB4	blood:	n/a	chr22:28314497-28314510 chr22:28314497-28314507 chr22:28314501-28314508 chr22:28314497-28314510 chr22:28314495-28314510 chr22:28315026-28315036 chr22:28314497-28314512 chr22:28314905-28314914 chr22:28314498-28314509 chr22:28314498-28314509 chr22:28314498-28314508 chr22:28314497-28314510 chr22:28314499-28314508
47	POLR2A	chr22:28314411-28316340	GM19099	blood:	n/a	n/a
48	POLR2A	chr22:28314385-28316390	HepG2	liver:	n/a	n/a
49	RCOR1	chr22:28315264-28316233	HepG2	liver:	n/a	n/a
50	POLR2A	chr22:28314180-28316964	IMR90	lung:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr22:28315943-28315993	Jurkat	blood:	n/a
2	chr22:28315943-28315993	HCT-116	colon:	n/a
3	chr22:28315943-28315993	K562	blood:	n/a
4	chr22:28315943-28315993	PANC-1	pancreas:	n/a
5	chr22:28315943-28315993	CMK	blood:	n/a
6	chr22:28315943-28315993	HRE	kidney:	n/a
7	chr22:28315943-28315993	ECC-1	luminal epithelium:	n/a
8	chr22:28315943-28315993	HAEpiC	amniotic membrane:	n/a
9	chr22:28315943-28315993	GM06990	blood:	n/a
10	chr22:28315943-28315993	Caco-2	colon:	n/a
11	chr22:28315943-28315993	PrEC	prostate:	n/a
12	chr22:28315943-28315993	SKMC	muscle:	n/a
13	chr22:28315943-28315993	HepG2	liver:	n/a
14	chr22:28315943-28315993	HEEpiC	esophagus:	n/a
15	chr22:28315943-28315993	AG04450	lung:	fetal
16	chr22:28315943-28315993	AG04449	skin:	fetal
17	chr22:28315943-28315993	H1-hESC	embryonic stem cell:	embryo
18	chr22:28315943-28315993	HEK293	kidney:	embryo
19	chr22:28315943-28315993	RPTEC	kidney:	n/a
20	chr22:28315943-28315993	HL-60	blood:	n/a
21	chr22:28315943-28315993	AG09319	gingival:	n/a
22	chr22:28315943-28315993	U87	brain:	n/a
23	chr22:28315943-28315993	NHDF-neo	bronchial:	n/a
24	chr22:28315943-28315993	HNPCEpiC	eye:	n/a
25	chr22:28315943-28315993	PFSK-1	brain:	n/a
26	chr22:28315943-28315993	Hela-S3	cervix:	n/a
27	chr22:28315943-28315993	NT2-D1	testis:	n/a
28	chr22:28315943-28315993	BJ	skin:	n/a
29	chr22:28315943-28315993	HCF	heart:	n/a
30	chr22:28315943-28315993	NB4	blood:	n/a
31	chr22:28315943-28315993	AG10803	skin:	n/a
32	chr22:28315943-28315993	T-47D	breast:	n/a
33	chr22:28315943-28315993	HMEC	breast:	n/a
34	chr22:28315943-28315993	HUVEC	blood vessel:	n/a
35	chr22:28315943-28315993	GM12878	blood:	n/a
36	chr22:28315943-28315993	AoSMC	blood vessel:	n/a
37	chr22:28315943-28315993	Hepatocyte	liver:	n/a
38	chr22:28315943-28315993	HCM	heart:	n/a
39	chr22:28315943-28315993	HRCEpiC	kidney:	n/a
40	chr22:28315943-28315993	ovcar-3	ovarian:	n/a
41	chr22:28315943-28315993	HCPEpiC	choroid plexus:	n/a
42	chr22:28315943-28315993	MCF10A-Er-Src	breast:	n/a
43	chr22:28315943-28315993	MCF-7	breast:	n/a
44	chr22:28315943-28315993	GM19239	blood:	n/a
45	chr22:28315943-28315993	HPAEpiC	pulmonary alveolar:	n/a
46	chr22:28315943-28315993	A549	lung:	n/a
47	chr22:28315943-28315993	NHBE	bronchial:	n/a
48	chr22:28315943-28315993	AG09309	skin:	n/a
49	chr22:28315943-28315993	SK-N-SH	brain:	n/a
50	chr22:28315943-28315993	HIPEpiC	eye:	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:28314414..28316359-chr22:28329725..28332798,3	MCF-7	breast:
2	chr22:28314687..28317374-chr22:28386537..28389209,3	MCF-7	breast:

Variant related genes	Relation type
PITPNB	TF binding region
PITPNB	CpG island
ENSG00000235954	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1000112	1.00[ASN][1000 genomes]
rs10483139	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16985690	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17389267	1.00[ASN][1000 genomes]
rs17480137	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17480313	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17480369	1.00[ASN][1000 genomes]
rs17480565	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17480971	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17481471	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34844050	1.00[ASN][1000 genomes]
rs35386208	1.00[ASN][1000 genomes]
rs35633908	1.00[ASN][1000 genomes]
rs7286237	1.00[ASN][1000 genomes]
rs7290640	1.00[ASN][1000 genomes]
rs8135697	0.84[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062877	chr22:28163507-28866350	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 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	chr22:28311200-28316200	Active TSS	GM12878-XiMat	blood
2	chr22:28313000-28317200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr22:28313200-28316200	Active TSS	Aorta	Aorta
4	chr22:28313600-28316200	Active TSS	Ovary	ovary
5	chr22:28313800-28316200	Active TSS	Lung	lung
6	chr22:28313800-28316400	Active TSS	Left Ventricle	heart
7	chr22:28313800-28316600	Active TSS	H1 Cell Line	embryonic stem cell
8	chr22:28314000-28316200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
9	chr22:28314000-28316400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr22:28314000-28316400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr22:28314000-28316400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr22:28314200-28316000	Active TSS	Breast Myoepithelial Primary Cells	Breast
13	chr22:28314200-28316000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
14	chr22:28314200-28316000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr22:28314200-28316000	Active TSS	Brain Hippocampus Middle	brain
16	chr22:28314200-28316000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
17	chr22:28314200-28316000	Active TSS	Fetal Heart	heart
18	chr22:28314200-28316000	Active TSS	Fetal Kidney	kidney
19	chr22:28314200-28316000	Active TSS	Placenta Amnion	Placenta Amnion
20	chr22:28314200-28316200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr22:28314200-28316200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr22:28314200-28316200	Active TSS	Brain Germinal Matrix	brain
23	chr22:28314200-28316200	Active TSS	Pancreatic Islets	Pancreatic Islet
24	chr22:28314200-28316200	Active TSS	HSMM	muscle
25	chr22:28314200-28316400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr22:28314200-28316400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr22:28314200-28316400	Active TSS	H9 Cell Line	embryonic stem cell
28	chr22:28314200-28316400	Active TSS	Right Ventricle	heart
29	chr22:28314200-28316600	Active TSS	ES-I3 Cell Line	embryonic stem cell
30	chr22:28314200-28316600	Active TSS	HUES48 Cell Line	embryonic stem cell
31	chr22:28314200-28316600	Active TSS	HUES6 Cell Line	embryonic stem cell
32	chr22:28314200-28316600	Active TSS	Right Atrium	heart
33	chr22:28314200-28316600	Active TSS	Hela-S3	cervix
34	chr22:28314200-28316800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr22:28314200-28316800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr22:28314200-28316800	Active TSS	Psoas Muscle	Psoas
37	chr22:28314200-28316800	Active TSS	Rectal Smooth Muscle	rectum
38	chr22:28314200-28316800	Active TSS	A549	lung
39	chr22:28314200-28317200	Active TSS	K562	blood
40	chr22:28314400-28316000	Active TSS	Primary T helper naive cells from peripheral blood	blood
41	chr22:28314400-28316000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr22:28314400-28316000	Active TSS	Brain Angular Gyrus	brain
43	chr22:28314400-28316000	Active TSS	Esophagus	oesophagus
44	chr22:28314400-28316000	Active TSS	Fetal Intestine Large	intestine
45	chr22:28314400-28316000	Active TSS	Fetal Intestine Small	intestine
46	chr22:28314400-28316000	Active TSS	Gastric	stomach
47	chr22:28314400-28316000	Active TSS	Rectal Mucosa Donor 29	rectum
48	chr22:28314400-28316000	Active TSS	NHEK	skin
49	chr22:28314400-28316200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr22:28314400-28316200	Active TSS	iPS-18 Cell Line	embryonic stem cell

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