Variant report

Variant	rs2267128
Chromosome Location	chr22:28316173-28316174
allele	A/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	CTCF	chr22:28316140-28316290	HUVEC	blood vessel:	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	FOS	chr22:28316165-28316664	MCF10A-Er-Src	breast:	n/a	chr22:28316505-28316515 chr22:28316505-28316515 chr22:28316505-28316515 chr22:28316505-28316515
7	POLR2A	chr22:28314826-28316650	HUVEC	blood vessel:	n/a	n/a
8	POLR2A	chr22:28315929-28316243	H1-hESC	embryonic stem cell:	n/a	n/a
9	ZNF263	chr22:28315291-28316402	HEK293-T-REx	kidney:	n/a	n/a
10	CTCF	chr22:28316120-28316270	HA-sp	spinal cord:	n/a	n/a
11	POLR2A	chr22:28314805-28316269	PFSK-1	brain:	n/a	n/a
12	CTCF	chr22:28316109-28316407	IMR90	lung:	n/a	n/a
13	KAP1	chr22:28315472-28316499	HEK293	kidney:	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	CTCF	chr22:28316100-28316250	NHDF-neo	bronchial:	n/a	n/a
19	CHD2	chr22:28314389-28316322	GM12878	blood:	n/a	n/a
20	CTCF	chr22:28316140-28316290	HMF	breast:	n/a	n/a
21	SIN3A	chr22:28314004-28316383	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr22:28314272-28316270	GM19193	blood:	n/a	n/a
23	TBP	chr22:28315950-28316397	Hela-S3	cervix:	n/a	n/a
24	CTCF	chr22:28316140-28316290	BJ	skin:	n/a	n/a
25	CTCF	chr22:28316142-28316340	HepG2	liver:	n/a	n/a
26	HCFC1	chr22:28314278-28316374	Hela-S3	cervix:	n/a	n/a
27	POLR2A	chr22:28316019-28316288	K562	blood:	n/a	n/a
28	TFAP2A	chr22:28315280-28316262	Hela-S3	cervix:	n/a	n/a
29	ZKSCAN1	chr22:28315212-28316208	Hela-S3	cervix:	n/a	n/a
30	POLR2A	chr22:28314498-28316356	H1-neurons	neurons:	n/a	n/a
31	CTCF	chr22:28316160-28316310	AG09319	gingival:	n/a	n/a
32	TAF1	chr22:28314939-28316206	H1-neurons	neurons:	n/a	n/a
33	CTCF	chr22:28316170-28316333	MCF-7	breast:	n/a	n/a
34	POLR2A	chr22:28316080-28316249	H1-hESC	embryonic stem cell:	n/a	n/a
35	CTCF	chr22:28316160-28316310	HCPEpiC	choroid plexus:	n/a	n/a
36	CTCF	chr22:28316159-28316408	K562	blood:	n/a	n/a
37	SMC3	chr22:28316022-28316426	Hela-S3	cervix:	n/a	n/a
38	CTCF	chr22:28316140-28316290	HEK293	kidney:	n/a	n/a
39	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
40	POLR2A	chr22:28314737-28316509	PFSK-1	brain:	n/a	n/a
41	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
42	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
43	RELA	chr22:28314398-28316534	GM10847	blood:	n/a	n/a
44	POLR2A	chr22:28314990-28316267	HCT-116	colon:	n/a	n/a
45	POLR2A	chr22:28314347-28316440	Hela-S3	cervix:	n/a	n/a
46	TBP	chr22:28315132-28316307	H1-hESC	embryonic stem cell:	n/a	n/a
47	RCOR1	chr22:28314985-28316442	Hela-S3	cervix:	n/a	n/a
48	CTCF	chr22:28316140-28316290	HRPEpiC	eye:	n/a	n/a
49	POLR2A	chr22:28315853-28316365	SK-N-SH	brain:	n/a	n/a
50	POLR2A	chr22:28315874-28316432	U87	brain:	n/a	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
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]
rs1016495	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12483793	0.94[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12484349	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs16985722	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17484428	1.00[CEU][hapmap]
rs1807581	1.00[ASN][1000 genomes]
rs2076505	1.00[CEU][hapmap]
rs2235713	1.00[CEU][hapmap]
rs2267127	1.00[ASN][1000 genomes]
rs2294818	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs28529300	1.00[ASN][1000 genomes]
rs56156048	1.00[ASN][1000 genomes]
rs7292046	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs738454	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs8138623	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs9613545	0.82[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	chr22:28314200-28316200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr22:28314200-28316200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr22:28314200-28316200	Active TSS	Brain Germinal Matrix	brain
15	chr22:28314200-28316200	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr22:28314200-28316200	Active TSS	HSMM	muscle
17	chr22:28314200-28316400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr22:28314200-28316400	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr22:28314200-28316400	Active TSS	H9 Cell Line	embryonic stem cell
20	chr22:28314200-28316400	Active TSS	Right Ventricle	heart
21	chr22:28314200-28316600	Active TSS	ES-I3 Cell Line	embryonic stem cell
22	chr22:28314200-28316600	Active TSS	HUES48 Cell Line	embryonic stem cell
23	chr22:28314200-28316600	Active TSS	HUES6 Cell Line	embryonic stem cell
24	chr22:28314200-28316600	Active TSS	Right Atrium	heart
25	chr22:28314200-28316600	Active TSS	Hela-S3	cervix
26	chr22:28314200-28316800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr22:28314200-28316800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr22:28314200-28316800	Active TSS	Psoas Muscle	Psoas
29	chr22:28314200-28316800	Active TSS	Rectal Smooth Muscle	rectum
30	chr22:28314200-28316800	Active TSS	A549	lung
31	chr22:28314200-28317200	Active TSS	K562	blood
32	chr22:28314400-28316200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr22:28314400-28316200	Active TSS	iPS-18 Cell Line	embryonic stem cell
34	chr22:28314400-28316200	Bivalent/Poised TSS	HepG2	liver
35	chr22:28314400-28316400	Active TSS	iPS-20b Cell Line	embryonic stem cell
36	chr22:28314400-28316400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
37	chr22:28314400-28316600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr22:28314400-28316600	Active TSS	HUES64 Cell Line	embryonic stem cell
39	chr22:28314400-28316600	Active TSS	iPS-15b Cell Line	embryonic stem cell
40	chr22:28314400-28317000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr22:28315400-28316400	Flanking Active TSS	Stomach Smooth Muscle	stomach
42	chr22:28315600-28316200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
43	chr22:28315600-28316200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
44	chr22:28315600-28316200	Flanking Active TSS	NHLF	lung
45	chr22:28315600-28316400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
46	chr22:28315600-28316400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
47	chr22:28315600-28316400	Flanking Active TSS	Primary T cells from cord blood	blood
48	chr22:28315600-28316400	Flanking Active TSS	Primary hematopoietic stem cells	blood
49	chr22:28315600-28316400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
50	chr22:28315600-28316400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood

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