Variant report

Variant	rs17146541
Chromosome Location	chr11:64739677-64739678
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	BHLHE40	chr11:64739311-64739723	K562	blood:	n/a	n/a
2	POLR2A	chr11:64739502-64739823	GM12878	blood:	n/a	n/a
3	E2F6	chr11:64739264-64739801	K562	blood:	n/a	chr11:64739629-64739638 chr11:64739565-64739574 chr11:64739711-64739718 chr11:64739711-64739718 chr11:64739710-64739719 chr11:64739711-64739718
4	NRF1	chr11:64739419-64739735	H1-hESC	embryonic stem cell:	n/a	chr11:64739625-64739639 chr11:64739630-64739639 chr11:64739561-64739575 chr11:64739628-64739642 chr11:64739564-64739573 chr11:64739563-64739574 chr11:64739564-64739575 chr11:64739570-64739579 chr11:64739564-64739578 chr11:64739628-64739639
5	POLR2A	chr11:64739434-64739737	A549	lung:	n/a	n/a
6	MYC	chr11:64739481-64739683	H1-hESC	embryonic stem cell:	n/a	n/a
7	MAX	chr11:64739085-64740041	H1-hESC	embryonic stem cell:	n/a	chr11:64739130-64739140
8	MAX	chr11:64739307-64739731	K562	blood:	n/a	n/a
9	FOXA2	chr11:64739424-64739867	A549	lung:	n/a	n/a
10	POLR2A	chr11:64739466-64739701	A549	lung:	n/a	n/a
11	ELF1	chr11:64738958-64739755	GM12878	blood:	n/a	n/a
12	CCNT2	chr11:64739470-64739836	K562	blood:	n/a	n/a
13	CTCF	chr11:64739578-64739689	Lung_OC	lung:	n/a	n/a
14	POLR2A	chr11:64739352-64739861	K562	blood:	n/a	n/a
15	POLR2A	chr11:64739354-64739878	K562	blood:	n/a	n/a
16	MAX	chr11:64739174-64739953	H1-hESC	embryonic stem cell:	n/a	n/a
17	MYC	chr11:64739467-64739786	K562	blood:	n/a	n/a
18	GABPA	chr11:64739510-64739756	H1-hESC	embryonic stem cell:	n/a	chr11:64739625-64739639 chr11:64739630-64739639 chr11:64739561-64739575 chr11:64739628-64739642 chr11:64739564-64739573 chr11:64739564-64739575 chr11:64739570-64739579 chr11:64739564-64739578 chr11:64739628-64739639
19	MAX	chr11:64739218-64739742	K562	blood:	n/a	n/a
20	E2F6	chr11:64739155-64739887	A549	lung:	n/a	chr11:64739629-64739638 chr11:64739565-64739574 chr11:64739711-64739718 chr11:64739711-64739718 chr11:64739710-64739719 chr11:64739711-64739718
21	E2F6	chr11:64738937-64740067	H1-hESC	embryonic stem cell:	n/a	chr11:64739629-64739638 chr11:64739565-64739574 chr11:64739711-64739718 chr11:64739711-64739718 chr11:64739710-64739719 chr11:64739711-64739718 chr11:64738938-64738947 chr11:64738938-64738950
22	POLR2A	chr11:64739409-64739828	K562	blood:	n/a	n/a
23	POLR2A	chr11:64739395-64739788	A549	lung:	n/a	n/a
24	GTF2F1	chr11:64739464-64739758	K562	blood:	n/a	n/a
25	TBP	chr11:64739490-64739718	K562	blood:	n/a	n/a
26	POLR2A	chr11:64739466-64739797	A549	lung:	n/a	n/a
27	NFYB	chr11:64739496-64739714	GM12878	blood:	n/a	n/a
28	HEY1	chr11:64739312-64739830	K562	blood:	n/a	chr11:64739533-64739548
29	POLR2A	chr11:64739342-64739838	HUVEC	blood vessel:	n/a	n/a
30	JUND	chr11:64739622-64739698	K562	blood:	n/a	n/a
31	PAX5	chr11:64739435-64739986	GM12878	blood:	n/a	chr11:64739629-64739638 chr11:64739565-64739574
32	POLR2A	chr11:64739296-64739822	PANC-1	pancreas:	n/a	n/a
33	POLR2A	chr11:64739352-64739702	HUVEC	blood vessel:	n/a	n/a
34	TCF12	chr11:64739068-64739927	A549	lung:	n/a	n/a
35	POLR2A	chr11:64739443-64739721	A549	lung:	n/a	n/a
36	MAX	chr11:64739374-64739865	GM12878	blood:	n/a	n/a
37	E2F6	chr11:64739077-64739985	A549	lung:	n/a	chr11:64739629-64739638 chr11:64739565-64739574 chr11:64739711-64739718 chr11:64739711-64739718 chr11:64739710-64739719 chr11:64739711-64739718
38	MAX	chr11:64739347-64739810	A549	lung:	n/a	n/a
39	MAZ	chr11:64739449-64739679	K562	blood:	n/a	n/a
40	POLR2A	chr11:64739490-64739708	H1-hESC	embryonic stem cell:	n/a	n/a
41	E2F6	chr11:64739053-64739843	K562	blood:	n/a	chr11:64739629-64739638 chr11:64739565-64739574 chr11:64739711-64739718 chr11:64739711-64739718 chr11:64739710-64739719 chr11:64739711-64739718
42	NRF1	chr11:64739418-64739773	K562	blood:	n/a	chr11:64739625-64739639 chr11:64739630-64739639 chr11:64739561-64739575 chr11:64739628-64739642 chr11:64739564-64739573 chr11:64739563-64739574 chr11:64739564-64739575 chr11:64739570-64739579 chr11:64739564-64739578 chr11:64739628-64739639
43	SETDB1	chr11:64739342-64739737	U2OS	brain:	n/a	chr11:64739629-64739638 chr11:64739565-64739574
44	POLR2A	chr11:64739290-64739892	K562	blood:	n/a	n/a
45	POLR2A	chr11:64739390-64739798	GM12878	blood:	n/a	n/a
46	BHLHE40	chr11:64739364-64739740	GM12878	blood:	n/a	n/a
47	NRF1	chr11:64739395-64739779	GM12878	blood:	n/a	chr11:64739625-64739639 chr11:64739630-64739639 chr11:64739561-64739575 chr11:64739628-64739642 chr11:64739564-64739573 chr11:64739563-64739574 chr11:64739564-64739575 chr11:64739570-64739579 chr11:64739564-64739578 chr11:64739628-64739639
48	MAX	chr11:64739040-64740055	A549	lung:	n/a	chr11:64739130-64739140
49	GTF2F1	chr11:64739490-64739698	H1-hESC	embryonic stem cell:	n/a	n/a
50	MTA3	chr11:64739620-64739957	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:64739428..64743212-chr11:64780553..64782608,3	K562	blood:
2	chr11:64690400..64694324-chr11:64737120..64740822,5	K562	blood:
3	chr11:64727356..64729952-chr11:64739370..64742304,2	K562	blood:

Variant related genes	Relation type
C11orf85	TF binding region
ENSG00000213465	Chromatin interaction
ENSG00000273003	Chromatin interaction
ENSG00000068971	Chromatin interaction
ENSG00000168070	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10488702	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs11827610	1.00[CEU][hapmap]
rs17146407	1.00[CEU][hapmap]
rs17146506	1.00[CEU][hapmap];1.00[YRI][hapmap];0.84[EUR][1000 genomes]
rs17146508	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17146511	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17146515	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17146519	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17146528	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17146539	1.00[CEU][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17146543	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17146544	1.00[CEU][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17146569	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17146575	1.00[CEU][hapmap];0.92[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17673281	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs35079323	1.00[CEU][hapmap]
rs3867127	1.00[CEU][hapmap]
rs3888184	1.00[CEU][hapmap]
rs4320955	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs58187497	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs60401184	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs60935617	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs628595	1.00[CEU][hapmap]
rs7102350	1.00[CEU][hapmap]
rs7103328	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs7113751	1.00[CEU][hapmap]
rs7123368	1.00[CEU][hapmap]
rs7482817	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs7942472	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526181	chr11:64638041-65257329	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1539 gene(s)	inside rSNPs	diseases
2	nsv555208	chr11:64645119-64771179	Weak transcription Active TSS Genic enhancers Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1029 gene(s)	inside rSNPs	diseases
3	nsv976460	chr11:64727780-64743097	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64738600-64739800	Enhancers	Primary hematopoietic stem cells	blood
2	chr11:64739000-64739800	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr11:64739000-64739800	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
4	chr11:64739000-64739800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
5	chr11:64739000-64739800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr11:64739000-64739800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
7	chr11:64739000-64739800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
8	chr11:64739000-64739800	Active TSS	A549	lung
9	chr11:64739000-64740000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
10	chr11:64739000-64740000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
11	chr11:64739000-64740000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
12	chr11:64739000-64740000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
13	chr11:64739000-64740000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
14	chr11:64739000-64740000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr11:64739000-64740000	Flanking Active TSS	Adipose Nuclei	Adipose
16	chr11:64739000-64740000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
17	chr11:64739000-64740000	Flanking Active TSS	Colonic Mucosa	Colon
18	chr11:64739000-64740000	Active TSS	Duodenum Smooth Muscle	Duodenum
19	chr11:64739000-64740000	Flanking Active TSS	Lung	lung
20	chr11:64739000-64740000	Flanking Active TSS	Pancreas	Pancrea
21	chr11:64739000-64740000	Active TSS	Psoas Muscle	Psoas
22	chr11:64739000-64740000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
23	chr11:64739000-64740000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
24	chr11:64739000-64740000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
25	chr11:64739000-64740000	Enhancers	Small Intestine	intestine
26	chr11:64739000-64741800	Enhancers	Fetal Brain Male	brain
27	chr11:64739200-64739800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr11:64739200-64739800	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr11:64739200-64739800	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr11:64739200-64739800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
31	chr11:64739200-64739800	Flanking Bivalent TSS/Enh	Primary Natural Killer cells fromperipheralblood	blood
32	chr11:64739200-64739800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
33	chr11:64739200-64739800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr11:64739200-64739800	Active TSS	Aorta	Aorta
35	chr11:64739200-64739800	Flanking Active TSS	Brain Angular Gyrus	brain
36	chr11:64739200-64739800	Active TSS	Brain Substantia Nigra	brain
37	chr11:64739200-64739800	Active TSS	Colon Smooth Muscle	Colon
38	chr11:64739200-64739800	Enhancers	Fetal Heart	heart
39	chr11:64739200-64739800	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
40	chr11:64739200-64739800	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
41	chr11:64739200-64739800	Active TSS	Pancreatic Islets	Pancreatic Islet
42	chr11:64739200-64739800	Flanking Active TSS	Placenta	Placenta
43	chr11:64739200-64739800	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
44	chr11:64739200-64739800	Flanking Bivalent TSS/Enh	Fetal Thymus	thymus
45	chr11:64739200-64739800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
46	chr11:64739200-64739800	Flanking Active TSS	Stomach Mucosa	stomach
47	chr11:64739200-64739800	Active TSS	HSMM	muscle
48	chr11:64739200-64739800	Bivalent/Poised TSS	HSMMtube	muscle
49	chr11:64739200-64739800	Flanking Active TSS	K562	blood
50	chr11:64739200-64739800	Flanking Active TSS	NH-A	brain

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