Variant report

Variant	rs73095636
Chromosome Location	chr1:220445318-220445319
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	chr1:220444744-220446443	H1-hESC	embryonic stem cell:	n/a	n/a
2	MAX	chr1:220445028-220446277	NB4	blood:	n/a	chr1:220445887-220445896 chr1:220445885-220445898 chr1:220445887-220445896 chr1:220445515-220445525 chr1:220445887-220445896 chr1:220445885-220445898 chr1:220445882-220445901
3	HCFC1	chr1:220444935-220446420	K562	blood:	n/a	n/a
4	TBL1XR1	chr1:220444857-220445410	K562	blood:	n/a	n/a
5	POLR2A	chr1:220445103-220446147	H1-hESC	embryonic stem cell:	n/a	n/a
6	CREB1	chr1:220445281-220446213	H1-hESC	embryonic stem cell:	n/a	n/a
7	STAT5A	chr1:220445295-220446199	K562	blood:	n/a	n/a
8	POLR2A	chr1:220444840-220446403	PFSK-1	brain:	n/a	n/a
9	POLR2A	chr1:220444876-220446303	GM12878	blood:	n/a	n/a
10	MAX	chr1:220445058-220446215	GM12878	blood:	n/a	chr1:220445887-220445896 chr1:220445885-220445898 chr1:220445887-220445896 chr1:220445515-220445525 chr1:220445887-220445896 chr1:220445885-220445898 chr1:220445882-220445901
11	USF1	chr1:220445222-220446329	HCT-116	colon:	n/a	chr1:220445899-220445915 chr1:220445885-220445898 chr1:220445887-220445896 chr1:220445881-220445902 chr1:220445888-220445897 chr1:220445887-220445896 chr1:220445885-220445896 chr1:220445886-220445895
12	FOXP2	chr1:220445245-220446026	PFSK-1	brain:	n/a	n/a
13	HEY1	chr1:220444982-220446186	K562	blood:	n/a	chr1:220445901-220445916
14	ELK1	chr1:220445294-220445351	Hela-S3	cervix:	n/a	n/a
15	RUNX3	chr1:220444840-220445358	GM12878	blood:	n/a	n/a
16	POLR2A	chr1:220444974-220446141	K562	blood:	n/a	n/a
17	RUNX3	chr1:220444964-220446132	GM12878	blood:	n/a	n/a
18	STAT5A	chr1:220444817-220446222	GM12878	blood:	n/a	chr1:220445273-220445285
19	MAZ	chr1:220445191-220446060	HepG2	liver:	n/a	chr1:220445887-220445896 chr1:220445885-220445898 chr1:220445887-220445896 chr1:220445515-220445525 chr1:220445887-220445896 chr1:220445885-220445898 chr1:220445882-220445901
20	MAX	chr1:220444984-220446325	SK-N-SH	brain:	n/a	chr1:220445887-220445896 chr1:220445885-220445898 chr1:220445887-220445896 chr1:220445515-220445525 chr1:220445887-220445896 chr1:220445885-220445898 chr1:220445882-220445901
21	POLR2A	chr1:220445314-220446206	GM12891	blood:	n/a	n/a
22	POLR2A	chr1:220444909-220446477	GM12878	blood:	n/a	n/a
23	POLR2A	chr1:220444777-220446366	MCF10A-Er-Src	breast:	n/a	n/a
24	HCFC1	chr1:220444541-220446530	Hela-S3	cervix:	n/a	n/a
25	GABPA	chr1:220445192-220446286	MCF-7	breast:	n/a	chr1:220445871-220445880 chr1:220445838-220445852 chr1:220445841-220445852 chr1:220445841-220445855 chr1:220445841-220445850
26	ZKSCAN1	chr1:220445156-220445994	Hela-S3	cervix:	n/a	n/a
27	USF2	chr1:220445065-220446325	GM12878	blood:	n/a	chr1:220445899-220445915 chr1:220445885-220445898 chr1:220445887-220445896 chr1:220445881-220445902 chr1:220445888-220445897 chr1:220445887-220445896 chr1:220445885-220445896 chr1:220445146-220445157 chr1:220445886-220445895
28	POLR2A	chr1:220443180-220446565	GM12891	blood:	n/a	n/a
29	CHD2	chr1:220445115-220446483	K562	blood:	n/a	n/a
30	MYC	chr1:220444991-220446277	K562	blood:	n/a	chr1:220445887-220445896 chr1:220445885-220445898 chr1:220445887-220445896 chr1:220445515-220445525 chr1:220445887-220445896 chr1:220445885-220445898 chr1:220445882-220445901
31	TEAD4	chr1:220445014-220445463	H1-hESC	embryonic stem cell:	n/a	chr1:220445255-220445264
32	UBTF	chr1:220444953-220446290	K562	blood:	n/a	n/a
33	UBTF	chr1:220444896-220446202	K562	blood:	n/a	n/a
34	MAX	chr1:220444971-220446300	K562	blood:	n/a	chr1:220445887-220445896 chr1:220445885-220445898 chr1:220445887-220445896 chr1:220445515-220445525 chr1:220445887-220445896 chr1:220445885-220445898 chr1:220445882-220445901
35	MYC	chr1:220444904-220446266	K562	blood:	n/a	chr1:220445887-220445896 chr1:220445885-220445898 chr1:220445887-220445896 chr1:220445515-220445525 chr1:220445887-220445896 chr1:220445885-220445898 chr1:220445882-220445901
36	POLR2A	chr1:220444963-220446298	K562	blood:	n/a	n/a
37	ZC3H11A	chr1:220445271-220445410	K562	blood:	n/a	n/a
38	TEAD4	chr1:220445063-220446162	K562	blood:	n/a	chr1:220445255-220445264
39	POLR2A	chr1:220445170-220446394	K562	blood:	n/a	n/a
40	POLR2A	chr1:220445011-220446150	GM12878	blood:	n/a	n/a
41	POLR2A	chr1:220445136-220446497	K562	blood:	n/a	n/a
42	CREB1	chr1:220445099-220446108	H1-hESC	embryonic stem cell:	n/a	n/a
43	NRF1	chr1:220445311-220446637	SK-N-SH	brain:	n/a	chr1:220445871-220445880 chr1:220445838-220445852 chr1:220445840-220445851 chr1:220445841-220445852 chr1:220445841-220445855 chr1:220445841-220445850
44	MAX	chr1:220444984-220446236	ECC-1	luminal epithelium:	n/a	chr1:220445887-220445896 chr1:220445885-220445898 chr1:220445887-220445896 chr1:220445515-220445525 chr1:220445887-220445896 chr1:220445885-220445898 chr1:220445882-220445901
45	ATF2	chr1:220445308-220446015	GM12878	blood:	n/a	n/a
46	POLR2A	chr1:220444958-220446310	GM18505	blood:	n/a	n/a
47	TAF1	chr1:220445050-220446072	H1-hESC	embryonic stem cell:	n/a	n/a
48	POLR2A	chr1:220445237-220446250	HCT-116	colon:	n/a	n/a
49	CHD2	chr1:220445036-220446061	Hela-S3	cervix:	n/a	n/a
50	MAZ	chr1:220444884-220446234	GM12878	blood:	n/a	chr1:220445887-220445896 chr1:220445885-220445898 chr1:220445887-220445896 chr1:220445515-220445525 chr1:220445887-220445896 chr1:220445885-220445898 chr1:220445882-220445901

No.	Distal block	Cell Line	Cell type
1	chr1:220444920..220445420-chr17:75491133..75491675,2	MCF-7	breast:
2	chr1:220440528..220443413-chr1:220443546..220445862,4	MCF-7	breast:
3	chr1:220445189..220446035-chr17:56736253..56736785,2	Hela-S3	cervix:
4	chr1:220443657..220445570-chr1:220960265..220962335,2	MCF-7	breast:

Variant related genes	Relation type
AURKAPS1	TF binding region
ENSG00000202077	Chromatin interaction
ENSG00000213033	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10127631	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10779401	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs10863539	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10863540	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11118501	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11118506	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11118509	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11118510	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11118513	0.98[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs11586671	1.00[EUR][1000 genomes]
rs12022336	0.82[ASN][1000 genomes]
rs12025326	0.82[ASN][1000 genomes]
rs12025702	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12026270	0.82[ASN][1000 genomes]
rs12030504	0.80[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12032536	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12033612	0.91[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12039349	0.82[ASN][1000 genomes]
rs12040095	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12043920	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12086105	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12086760	0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28650887	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56357312	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6690426	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6703091	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73087829	0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73095623	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73098569	0.82[ASN][1000 genomes]
rs73098579	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1001681	chr1:220425057-220548325	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv535298	chr1:220425057-220548325	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 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	chr1:220443600-220446600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr1:220443800-220446000	Active TSS	GM12878-XiMat	blood
3	chr1:220443800-220446600	Active TSS	H1 Cell Line	embryonic stem cell
4	chr1:220444000-220445400	Flanking Active TSS	Primary T cells from cord blood	blood
5	chr1:220444000-220445600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr1:220444000-220446000	Flanking Active TSS	Primary hematopoietic stem cells	blood
7	chr1:220444000-220446600	Active TSS	ES-I3 Cell Line	embryonic stem cell
8	chr1:220444000-220446600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr1:220444200-220445400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
10	chr1:220444200-220446200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
11	chr1:220444200-220446400	Active TSS	HSMMtube	muscle
12	chr1:220444200-220446600	Active TSS	Muscle Satellite Cultured Cells	--
13	chr1:220444400-220445400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr1:220444400-220446200	Active TSS	Primary T cells fromperipheralblood	blood
15	chr1:220444400-220446400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr1:220444400-220446400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr1:220444400-220446400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr1:220444400-220446400	Active TSS	Colonic Mucosa	Colon
19	chr1:220444400-220446400	Active TSS	Fetal Intestine Small	intestine
20	chr1:220444400-220446600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr1:220444400-220446600	Active TSS	Brain Angular Gyrus	brain
22	chr1:220444600-220445600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
23	chr1:220444600-220446000	Active TSS	HUES48 Cell Line	embryonic stem cell
24	chr1:220444600-220446000	Active TSS	HUES6 Cell Line	embryonic stem cell
25	chr1:220444600-220446000	Active TSS	iPS-15b Cell Line	embryonic stem cell
26	chr1:220444600-220446000	Active TSS	Breast Myoepithelial Primary Cells	Breast
27	chr1:220444600-220446000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr1:220444600-220446000	Active TSS	HMEC	breast
29	chr1:220444600-220446000	Active TSS	K562	blood
30	chr1:220444600-220446000	Active TSS	NHLF	lung
31	chr1:220444600-220446200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr1:220444600-220446200	Active TSS	iPS-18 Cell Line	embryonic stem cell
33	chr1:220444600-220446200	Active TSS	iPS-20b Cell Line	embryonic stem cell
34	chr1:220444600-220446200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr1:220444600-220446200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr1:220444600-220446200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr1:220444600-220446200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr1:220444600-220446200	Active TSS	Duodenum Smooth Muscle	Duodenum
39	chr1:220444600-220446200	Active TSS	Fetal Brain Female	brain
40	chr1:220444600-220446200	Active TSS	Fetal Kidney	kidney
41	chr1:220444600-220446400	Active TSS	H9 Cell Line	embryonic stem cell
42	chr1:220444600-220446400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr1:220444600-220446400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
44	chr1:220444600-220446400	Active TSS	Fetal Intestine Large	intestine
45	chr1:220444600-220446400	Active TSS	Pancreatic Islets	Pancreatic Islet
46	chr1:220444600-220446400	Active TSS	Right Ventricle	heart
47	chr1:220444600-220446400	Active TSS	Stomach Mucosa	stomach
48	chr1:220444600-220446400	Active TSS	A549	lung
49	chr1:220444600-220446400	Active TSS	HSMM	muscle
50	chr1:220444600-220446600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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