Variant report

Variant	rs1321836
Chromosome Location	chr6:119217375-119217376
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	FOSL1	chr6:119217236-119218166	HCT-116	colon:	n/a	chr6:119217828-119217836 chr6:119217829-119217836 chr6:119217604-119217611 chr6:119217604-119217612 chr6:119217828-119217836 chr6:119217603-119217613 chr6:119217604-119217612
2	POLR2A	chr6:119217373-119217948	U87	brain:	n/a	n/a
3	NFIC	chr6:119217237-119218081	GM12878	blood:	n/a	n/a
4	FOXM1	chr6:119217374-119218041	GM12878	blood:	n/a	n/a
5	IRF1	chr6:119217281-119217930	K562	blood:	n/a	chr6:119217828-119217837 chr6:119217768-119217778 chr6:119217770-119217779
6	FOS	chr6:119217336-119217996	MCF10A-Er-Src	breast:	n/a	chr6:119217828-119217836 chr6:119217826-119217837 chr6:119217829-119217836 chr6:119217604-119217611 chr6:119217604-119217612 chr6:119217828-119217836 chr6:119217603-119217613 chr6:119217604-119217612
7	PML	chr6:119217331-119218033	K562	blood:	n/a	chr6:119217602-119217611
8	YY1	chr6:119217366-119217968	GM12892	blood:	n/a	n/a
9	POLR2A	chr6:119217232-119218035	U87	brain:	n/a	n/a
10	POLR2A	chr6:119217360-119217763	U87	brain:	n/a	n/a
11	CEBPB	chr6:119217334-119217948	K562	blood:	n/a	n/a
12	POLR2A	chr6:119217320-119218549	K562	blood:	n/a	n/a
13	FOS	chr6:119217365-119218004	MCF10A-Er-Src	breast:	n/a	chr6:119217828-119217836 chr6:119217826-119217837 chr6:119217829-119217836 chr6:119217604-119217611 chr6:119217604-119217612 chr6:119217828-119217836 chr6:119217603-119217613 chr6:119217604-119217612
14	GATA1	chr6:119217162-119218045	PBDE	blood:	n/a	chr6:119217829-119217838 chr6:119217579-119217586
15	TEAD4	chr6:119217240-119218155	HepG2	liver:	n/a	n/a
16	YY1	chr6:119217327-119218060	SK-N-SH	brain:	n/a	n/a
17	MYC	chr6:119217182-119218034	MCF10A-Er-Src	breast:	n/a	chr6:119217604-119217613 chr6:119217827-119217836
18	ARID3A	chr6:119217291-119218060	HepG2	liver:	n/a	n/a
19	POLR2A	chr6:119217374-119217786	GM12892	blood:	n/a	n/a
20	PML	chr6:119217372-119218095	GM12878	blood:	n/a	chr6:119217602-119217611
21	MYBL2	chr6:119217349-119218064	HepG2	liver:	n/a	n/a
22	TEAD4	chr6:119217362-119218105	K562	blood:	n/a	n/a
23	ZNF384	chr6:119217148-119217846	K562	blood:	n/a	n/a
24	CBX3	chr6:119217348-119218163	HCT-116	colon:	n/a	chr6:119217965-119217976
25	FOSL2	chr6:119217321-119218078	A549	lung:	n/a	chr6:119217828-119217836 chr6:119217829-119217836 chr6:119217604-119217611 chr6:119217604-119217612 chr6:119217828-119217836 chr6:119217603-119217613 chr6:119217604-119217612
26	CEBPB	chr6:119217369-119217792	A549	lung:	n/a	n/a
27	CHD1	chr6:119214496-119217944	H1-hESC	embryonic stem cell:	n/a	n/a
28	MAFK	chr6:119217338-119218060	H1-hESC	embryonic stem cell:	n/a	chr6:119217604-119217614 chr6:119217821-119217836
29	BACH1	chr6:119217304-119218079	H1-hESC	embryonic stem cell:	n/a	n/a
30	POLR2A	chr6:119217288-119217795	MCF10A-Er-Src	breast:	n/a	n/a
31	NR2F2	chr6:119217342-119218241	K562	blood:	n/a	n/a
32	TEAD4	chr6:119217327-119218087	K562	blood:	n/a	n/a
33	POLR2A	chr6:119217357-119217925	MCF10A-Er-Src	breast:	n/a	n/a
34	ARID3A	chr6:119217171-119217977	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:119214552..119219906-chr6:119253918..119257622,8	MCF-7	breast:
2	chr6:119216722..119218492-chr6:119251658..119253168,2	K562	blood:
3	chr6:119213105..119220728-chr6:119253299..119257962,22	K562	blood:
4	chr6:119213036..119217484-chr6:119254311..119257675,9	MCF-7	breast:
5	chr6:119213694..119219544-chr6:119251621..119258172,21	K562	blood:
6	chr6:119030681..119033583-chr6:119216548..119219009,2	K562	blood:
7	chr6:119215906..119219234-chr6:119443291..119446175,3	K562	blood:
8	chr5:140698166..140700662-chr6:119215254..119217886,2	MCF-7	breast:
9	chr6:119215924..119218586-chr6:119236069..119238504,2	K562	blood:
10	chr6:118997357..119000224-chr6:119215620..119217691,2	K562	blood:
11	chr6:119027193..119028788-chr6:119215908..119217917,2	K562	blood:
12	chr6:119029203..119032181-chr6:119214720..119218048,3	K562	blood:
13	chr6:119215862..119217383-chr6:119670691..119672707,2	K562	blood:
14	chr6:119216161..119219506-chr6:119398191..119401599,4	K562	blood:

Variant related genes	Relation type
MCM9	TF binding region
ENSG00000178913	Chromatin interaction
ENSG00000253194	Chromatin interaction
ENSG00000111860	Chromatin interaction
ENSG00000111885	Chromatin interaction
ENSG00000111879	Chromatin interaction
ENSG00000111877	Chromatin interaction
ENSG00000255729	Chromatin interaction

Extended variants
information (count: 91 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:89)

rs_ID	r²[population]
rs10080855	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10456919	0.80[EUR][1000 genomes]
rs1087453	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1087454	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1087455	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11153785	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12190974	0.80[EUR][1000 genomes]
rs12191490	0.83[ASN][1000 genomes]
rs12191819	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12194515	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12195153	0.80[EUR][1000 genomes]
rs12196440	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12197931	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12200499	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12203353	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12203542	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12206826	0.96[ASN][1000 genomes]
rs12210027	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12212179	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12214434	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12216519	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1342793	0.80[EUR][1000 genomes]
rs1407205	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1407206	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1539434	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2295709	0.81[ASN][1000 genomes]
rs2357022	0.80[EUR][1000 genomes]
rs284914	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs284915	0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs284916	0.83[ASN][1000 genomes]
rs284918	1.00[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs284920	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs376225	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3798594	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3798595	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3798599	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs388987	0.87[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs409849	0.83[ASN][1000 genomes]
rs41292550	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs41292554	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4946384	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs55810806	0.80[EUR][1000 genomes]
rs56794995	0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56895036	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6935641	0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6937499	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs706971	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs706978	0.80[EUR][1000 genomes]
rs706979	0.80[EUR][1000 genomes]
rs72966811	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72966851	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72966873	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72966896	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs72970448	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs768995	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs768996	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs794250	0.80[EUR][1000 genomes]
rs794252	0.80[EUR][1000 genomes]
rs794253	0.80[EUR][1000 genomes]
rs794254	0.80[EUR][1000 genomes]
rs794606	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs794607	0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs794608	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs794611	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs797002	0.80[EUR][1000 genomes]
rs797017	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs811201	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs811584	0.80[EUR][1000 genomes]
rs9320673	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9481862	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9481867	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9481868	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9481869	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9481870	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9481871	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9481872	1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9481877	0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9481878	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9489530	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs9489531	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9489535	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9489536	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9489537	0.96[ASN][1000 genomes]
rs9489539	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9489540	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9489541	0.83[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs9489543	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9489544	0.96[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9489547	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[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	nsv1020405	chr6:118786586-119241006	ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv1023826	chr6:119026481-119221408	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 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	chr6:119213400-119217800	Active TSS	Right Atrium	heart
2	chr6:119213600-119217600	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
3	chr6:119213600-119217800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr6:119213600-119218000	Active TSS	Primary T cells fromperipheralblood	blood
5	chr6:119213600-119218200	Active TSS	NHLF	lung
6	chr6:119213800-119217600	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr6:119213800-119217600	Active TSS	Fetal Thymus	thymus
8	chr6:119213800-119217600	Active TSS	HSMMtube	muscle
9	chr6:119213800-119218000	Active TSS	GM12878-XiMat	blood
10	chr6:119213800-119218200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
11	chr6:119214000-119217400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr6:119214000-119217400	Active TSS	Brain Anterior Caudate	brain
13	chr6:119214000-119217400	Active TSS	Brain Cingulate Gyrus	brain
14	chr6:119214000-119217400	Active TSS	Thymus	Thymus
15	chr6:119214000-119217600	Active TSS	Fetal Brain Female	brain
16	chr6:119214000-119217800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr6:119214000-119218000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr6:119214000-119218000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr6:119214200-119217600	Active TSS	H1 Cell Line	embryonic stem cell
20	chr6:119214200-119217600	Active TSS	HUES6 Cell Line	embryonic stem cell
21	chr6:119214200-119217600	Active TSS	A549	lung
22	chr6:119214200-119217800	Active TSS	Rectal Mucosa Donor 29	rectum
23	chr6:119214200-119218200	Active TSS	H9 Cell Line	embryonic stem cell
24	chr6:119214400-119217400	Active TSS	HUES48 Cell Line	embryonic stem cell
25	chr6:119214400-119217400	Active TSS	NH-A	brain
26	chr6:119214400-119217600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr6:119214400-119218000	Active TSS	HMEC	breast
28	chr6:119214400-119218200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr6:119214600-119217400	Active TSS	iPS-18 Cell Line	embryonic stem cell
30	chr6:119214600-119217400	Active TSS	iPS-20b Cell Line	embryonic stem cell
31	chr6:119214600-119217400	Active TSS	Primary hematopoietic stem cells short term culture	blood
32	chr6:119214600-119217400	Active TSS	Hela-S3	cervix
33	chr6:119214600-119217800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
34	chr6:119214600-119218000	Active TSS	K562	blood
35	chr6:119214600-119218200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr6:119214800-119217400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr6:119216200-119217400	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
38	chr6:119216200-119217800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr6:119216200-119218000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr6:119216400-119217400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr6:119216400-119217800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
42	chr6:119216400-119218000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr6:119216600-119217400	Weak transcription	Stomach Mucosa	stomach
44	chr6:119216600-119217600	Flanking Active TSS	Primary T cells from cord blood	blood
45	chr6:119216600-119217600	Weak transcription	Small Intestine	intestine
46	chr6:119216600-119217800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
47	chr6:119216600-119217800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr6:119216600-119218000	Weak transcription	Left Ventricle	heart
49	chr6:119216600-119218000	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr6:119216600-119219600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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