Variant report

Variant	rs72966896
Chromosome Location	chr6:119256082-119256083
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	MAZ	chr6:119255544-119256583	HepG2	liver:	n/a	chr6:119256174-119256185 chr6:119256176-119256183 chr6:119256175-119256185 chr6:119256175-119256184
2	MAX	chr6:119255389-119256540	ECC-1	luminal epithelium:	n/a	chr6:119256174-119256185 chr6:119256176-119256183 chr6:119256175-119256185 chr6:119256175-119256184
3	BCLAF1	chr6:119255934-119256470	GM12878	blood:	n/a	chr6:119256194-119256207
4	POLR2A	chr6:119255359-119256710	PFSK-1	brain:	n/a	n/a
5	YY1	chr6:119255563-119256445	GM12892	blood:	n/a	chr6:119255784-119255795 chr6:119256201-119256210
6	POLR2A	chr6:119255961-119256509	A549	lung:	n/a	n/a
7	POLR2A	chr6:119255530-119256664	GM19193	blood:	n/a	n/a
8	MAZ	chr6:119255108-119256825	IMR90	lung:	n/a	chr6:119256174-119256185 chr6:119256176-119256183 chr6:119256175-119256185 chr6:119256175-119256184
9	GABPA	chr6:119255928-119256546	K562	blood:	n/a	n/a
10	YY1	chr6:119255549-119256554	K562	blood:	n/a	chr6:119255784-119255795 chr6:119256201-119256210
11	ELF1	chr6:119255618-119256562	GM12878	blood:	n/a	chr6:119256313-119256326 chr6:119255771-119255780
12	POLR2A	chr6:119255632-119256592	HUVEC	blood vessel:	n/a	n/a
13	MAX	chr6:119255513-119256419	K562	blood:	n/a	chr6:119256174-119256185 chr6:119256176-119256183 chr6:119256175-119256185 chr6:119256175-119256184
14	POLR2A	chr6:119255588-119256630	GM12891	blood:	n/a	n/a
15	POLR2A	chr6:119255699-119256603	GM12892	blood:	n/a	n/a
16	E2F4	chr6:119255452-119256533	MCF10A-Er-Src	breast:	n/a	chr6:119255764-119255775 chr6:119255765-119255774 chr6:119255766-119255773 chr6:119255754-119255763 chr6:119255766-119255773 chr6:119255755-119255769 chr6:119255797-119255807 chr6:119255765-119255773 chr6:119255766-119255773
17	PML	chr6:119256064-119256523	MCF-7	breast:	n/a	n/a
18	TRIM28	chr6:119255785-119256712	K562	blood:	n/a	n/a
19	HDAC2	chr6:119255919-119256534	HepG2	liver:	n/a	n/a
20	ZC3H11A	chr6:119255920-119256112	K562	blood:	n/a	n/a
21	ELF1	chr6:119256050-119256441	K562	blood:	n/a	chr6:119256313-119256326
22	TCF7L2	chr6:119255792-119256653	Hela-S3	cervix:	n/a	n/a
23	PAX5	chr6:119255644-119256545	GM12878	blood:	n/a	chr6:119255752-119255761
24	E2F6	chr6:119256081-119256340	K562	blood:	n/a	n/a
25	TAF1	chr6:119255525-119256666	ECC-1	luminal epithelium:	n/a	n/a
26	THAP1	chr6:119256065-119256387	K562	blood:	n/a	n/a
27	POLR2A	chr6:119255637-119256658	HUVEC	blood vessel:	n/a	n/a
28	BRCA1	chr6:119256054-119256142	GM12878	blood:	n/a	n/a
29	STAT1	chr6:119255768-119256551	GM12878	blood:	n/a	n/a
30	MAX	chr6:119255624-119256598	K562	blood:	n/a	chr6:119256174-119256185 chr6:119256176-119256183 chr6:119256175-119256185 chr6:119256175-119256184
31	NR2F2	chr6:119255605-119256835	K562	blood:	n/a	n/a
32	POLR2A	chr6:119255437-119256579	Hela-S3	cervix:	n/a	n/a
33	USF1	chr6:119255976-119256371	ECC-1	luminal epithelium:	n/a	n/a
34	YY1	chr6:119256076-119256404	GM12891	blood:	n/a	chr6:119256201-119256210
35	USF1	chr6:119255988-119256227	GM12878	blood:	n/a	n/a
36	YY1	chr6:119255573-119256387	ECC-1	luminal epithelium:	n/a	chr6:119255784-119255795 chr6:119256201-119256210
37	POLR2A	chr6:119255650-119256461	HUVEC	blood vessel:	n/a	n/a
38	TAF7	chr6:119255580-119256431	H1-hESC	embryonic stem cell:	n/a	n/a
39	MBD4	chr6:119255656-119256282	HepG2	liver:	n/a	n/a
40	EGR1	chr6:119256013-119256504	K562	blood:	n/a	n/a
41	YY1	chr6:119255970-119256491	GM12878	blood:	n/a	chr6:119256201-119256210
42	PML	chr6:119255563-119256669	K562	blood:	n/a	n/a
43	CHD2	chr6:119255778-119256487	HepG2	liver:	n/a	chr6:119256389-119256399
44	RCOR1	chr6:119255486-119256634	K562	blood:	n/a	n/a
45	TAF1	chr6:119255985-119256491	SK-N-SH	brain:	n/a	n/a
46	USF1	chr6:119256017-119256331	A549	lung:	n/a	n/a
47	TBP	chr6:119255814-119256481	H1-hESC	embryonic stem cell:	n/a	n/a
48	ELK1	chr6:119255991-119256362	Hela-S3	cervix:	n/a	n/a
49	MYC	chr6:119255950-119256279	K562	blood:	n/a	chr6:119256174-119256185 chr6:119256176-119256183 chr6:119256175-119256185 chr6:119256175-119256184
50	TEAD4	chr6:119255432-119256697	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:119213694..119219544-chr6:119251621..119258172,21	K562	blood:
2	chr4:79472622..79473237-chr6:119256049..119256758,2	HCT-116	colon:
3	chr6:119253156..119256806-chr6:119394976..119399977,7	K562	blood:
4	chr5:56205869..56206380-chr6:119255621..119256581,2	Hela-S3	cervix:
5	chr6:119213036..119217484-chr6:119254311..119257675,9	MCF-7	breast:
6	chr6:119242613..119249110-chr6:119251513..119257145,6	MCF-7	breast:
7	chr6:119148024..119150788-chr6:119254470..119256543,2	MCF-7	breast:
8	chr6:119255727..119258203-chr6:119400226..119402388,2	K562	blood:
9	chr6:119214552..119219906-chr6:119253918..119257622,8	MCF-7	breast:
10	chr6:119253238..119258280-chr6:119398045..119402661,8	K562	blood:
11	chr1:28907889..28908475-chr6:119255713..119256233,2	Hela-S3	cervix:
12	chr6:119213105..119220728-chr6:119253299..119257962,22	K562	blood:
13	chr1:149223435..149224292-chr6:119255876..119256729,2	HCT-116	colon:
14	chr15:90708735..90709594-chr6:119255785..119256642,2	HCT-116	colon:
15	chr10:74927354..74928318-chr6:119255751..119256642,2	NB4	blood:

Variant related genes	Relation type
MCM9	TF binding region
ENSG00000240470	Chromatin interaction
ENSG00000138772	Chromatin interaction
ENSG00000197989	Chromatin interaction
ENSG00000111875	Chromatin interaction
ENSG00000206737	Chromatin interaction
ENSG00000155542	Chromatin interaction
ENSG00000122882	Chromatin interaction
ENSG00000111879	Chromatin interaction
ENSG00000138286	Chromatin interaction
ENSG00000111877	Chromatin interaction

Extended variants
information (count: 95 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:93)

rs_ID	r²[population]
rs10080855	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10456919	0.80[EUR][1000 genomes]
rs1087453	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1087454	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1087455	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11153785	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12190974	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12191490	0.82[ASN][1000 genomes]
rs12191819	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12194515	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12195153	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs12196440	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12197931	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12200499	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12203353	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12203542	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12206826	0.95[ASN][1000 genomes]
rs12210027	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12212179	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12214434	1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12216519	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1321836	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1342793	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1407205	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1407206	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1539434	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1775619	0.82[AMR][1000 genomes]
rs2295709	0.81[ASN][1000 genomes]
rs2357022	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs2782574	0.87[AMR][1000 genomes]
rs2797355	0.82[AMR][1000 genomes]
rs284914	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs284915	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs284916	0.82[ASN][1000 genomes]
rs284918	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs284920	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs376225	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3798594	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3798595	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3798599	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs388987	0.90[EUR][1000 genomes]
rs409849	0.82[ASN][1000 genomes]
rs41292550	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs41292554	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4946384	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs55810806	0.80[EUR][1000 genomes]
rs56794995	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs56895036	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6935641	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6937499	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs706971	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs706978	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs706979	0.80[EUR][1000 genomes]
rs72966811	1.00[EUR][1000 genomes]
rs72966851	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs72966873	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72970448	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs768995	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs768996	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs794250	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs794252	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs794253	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs794254	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs794259	0.82[AMR][1000 genomes]
rs794606	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs794607	0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs794608	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs794611	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs797002	0.80[EUR][1000 genomes]
rs797017	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs811201	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs811584	0.80[EUR][1000 genomes]
rs9320673	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9481862	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9481867	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9481868	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9481869	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9481870	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9481871	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9481872	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9481877	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9481878	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9489530	0.86[EUR][1000 genomes]
rs9489531	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9489535	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9489536	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9489537	0.95[ASN][1000 genomes]
rs9489539	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9489540	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9489541	0.96[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs9489543	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9489544	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9489547	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[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	esv16596	chr6:119251007-119272087	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
2	nsv437523	chr6:119251971-119260280	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	13 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	chr6:119254000-119257400	Active TSS	GM12878-XiMat	blood
2	chr6:119254600-119257000	Active TSS	Fetal Intestine Large	intestine
3	chr6:119255000-119257000	Active TSS	H1 Cell Line	embryonic stem cell
4	chr6:119255000-119257000	Active TSS	HMEC	breast
5	chr6:119255000-119257200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr6:119255000-119257200	Active TSS	Stomach Smooth Muscle	stomach
7	chr6:119255200-119256600	Active TSS	Gastric	stomach
8	chr6:119255200-119256600	Active TSS	Psoas Muscle	Psoas
9	chr6:119255200-119256600	Active TSS	Sigmoid Colon	Sigmoid Colon
10	chr6:119255200-119256600	Active TSS	NHLF	lung
11	chr6:119255200-119256800	Active TSS	H9 Cell Line	embryonic stem cell
12	chr6:119255200-119256800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr6:119255200-119256800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
14	chr6:119255200-119256800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr6:119255200-119256800	Active TSS	Aorta	Aorta
16	chr6:119255200-119256800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
17	chr6:119255200-119256800	Active TSS	Fetal Muscle Trunk	muscle
18	chr6:119255200-119256800	Active TSS	Fetal Stomach	stomach
19	chr6:119255200-119256800	Active TSS	Right Atrium	heart
20	chr6:119255200-119256800	Active TSS	Right Ventricle	heart
21	chr6:119255200-119256800	Active TSS	Stomach Mucosa	stomach
22	chr6:119255200-119256800	Active TSS	A549	lung
23	chr6:119255200-119257000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
24	chr6:119255200-119257000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr6:119255200-119257000	Active TSS	HSMMtube	muscle
26	chr6:119255200-119257200	Active TSS	HUES48 Cell Line	embryonic stem cell
27	chr6:119255200-119257400	Active TSS	HSMM	muscle
28	chr6:119255400-119256400	Active TSS	Primary T helper cells PMA-I stimulated	--
29	chr6:119255400-119256400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr6:119255400-119256400	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
31	chr6:119255400-119256400	Active TSS	Fetal Brain Female	brain
32	chr6:119255400-119256400	Active TSS	Fetal Lung	lung
33	chr6:119255400-119256600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr6:119255400-119256600	Active TSS	HUES64 Cell Line	embryonic stem cell
35	chr6:119255400-119256600	Active TSS	iPS-18 Cell Line	embryonic stem cell
36	chr6:119255400-119256600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr6:119255400-119256600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr6:119255400-119256600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
39	chr6:119255400-119256600	Active TSS	Primary T regulatory cells fromperipheralblood	blood
40	chr6:119255400-119256600	Active TSS	Primary T killer naive cells fromperipheralblood	blood
41	chr6:119255400-119256600	Active TSS	Primary T killer memory cells from peripheral blood	blood
42	chr6:119255400-119256600	Active TSS	Esophagus	oesophagus
43	chr6:119255400-119256600	Active TSS	Left Ventricle	heart
44	chr6:119255400-119256600	Active TSS	Lung	lung
45	chr6:119255400-119256800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr6:119255400-119256800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr6:119255400-119256800	Active TSS	iPS-15b Cell Line	embryonic stem cell
48	chr6:119255400-119256800	Active TSS	iPS-20b Cell Line	embryonic stem cell
49	chr6:119255400-119256800	Active TSS	Primary T cells fromperipheralblood	blood
50	chr6:119255400-119256800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin

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