Variant report

Variant	rs60928821
Chromosome Location	chr11:62360963-62360964
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:57)
CpG islands
(count:0)
Chromatin interactive
region (count:26)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:1)

(count:57 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	BCLAF1	chr11:62360916-62361230	GM12878	blood:	n/a	n/a
2	MTA3	chr11:62360960-62361375	GM12878	blood:	n/a	n/a
3	YY1	chr11:62360946-62361359	H1-hESC	embryonic stem cell:	n/a	n/a
4	RAD21	chr11:62360893-62361475	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr11:62360721-62361841	SK-N-SH	brain:	n/a	n/a
6	POLR2A	chr11:62360945-62361422	K562	blood:	n/a	n/a
7	CHD2	chr11:62360891-62361222	K562	blood:	n/a	n/a
8	FOSL2	chr11:62360839-62361358	A549	lung:	n/a	n/a
9	MAX	chr11:62360952-62361382	ECC-1	luminal epithelium:	n/a	n/a
10	POLR2A	chr11:62360907-62361537	K562	blood:	n/a	n/a
11	SP1	chr11:62360665-62361397	H1-hESC	embryonic stem cell:	n/a	n/a
12	RAD21	chr11:62360855-62361604	HCT-116	colon:	n/a	chr11:62361562-62361581
13	POLR2A	chr11:62360943-62361459	GM12891	blood:	n/a	n/a
14	YY1	chr11:62360783-62361449	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr11:62358000-62361910	GM12878	blood:	n/a	n/a
16	POLR2A	chr11:62360753-62362028	HL-60	blood:	n/a	n/a
17	ZNF384	chr11:62360735-62361301	GM12878	blood:	n/a	n/a
18	ATF2	chr11:62360936-62361387	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr11:62360841-62361362	GM12892	blood:	n/a	n/a
20	MAX	chr11:62360854-62361504	A549	lung:	n/a	n/a
21	MTA3	chr11:62360909-62361470	GM12878	blood:	n/a	n/a
22	MAX	chr11:62360955-62361446	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr11:62358124-62361905	PFSK-1	brain:	n/a	n/a
24	MXI1	chr11:62360513-62361566	SK-N-SH	brain:	n/a	n/a
25	MXI1	chr11:62360785-62361620	IMR90	lung:	n/a	n/a
26	RUNX3	chr11:62360955-62361382	GM12878	blood:	n/a	n/a
27	RAD21	chr11:62360960-62361411	ECC-1	luminal epithelium:	n/a	n/a
28	POLR2A	chr11:62358133-62361673	K562	blood:	n/a	n/a
29	POLR2A	chr11:62358062-62361467	HUVEC	blood vessel:	n/a	n/a
30	RAD21	chr11:62360896-62361443	A549	lung:	n/a	n/a
31	POLR2A	chr11:62360938-62362127	K562	blood:	n/a	n/a
32	RAD21	chr11:62360772-62361537	SK-N-SH	brain:	n/a	n/a
33	CTCF	chr11:62360597-62361753	A549	lung:	n/a	n/a
34	CTCF	chr11:62360923-62361388	K562	blood:	n/a	n/a
35	YY1	chr11:62360939-62361369	SK-N-SH	brain:	n/a	n/a
36	YY1	chr11:62360900-62361302	GM12892	blood:	n/a	n/a
37	YY1	chr11:62360840-62361299	GM12878	blood:	n/a	n/a
38	MAX	chr11:62360935-62361464	A549	lung:	n/a	n/a
39	CTCF	chr11:62360773-62361594	HCT-116	colon:	n/a	n/a
40	POLR2A	chr11:62360871-62361910	GM12892	blood:	n/a	n/a
41	MYC	chr11:62360875-62361344	A549	lung:	n/a	n/a
42	POLR2A	chr11:62360892-62361371	GM12891	blood:	n/a	n/a
43	ZNF384	chr11:62360672-62361324	K562	blood:	n/a	n/a
44	TEAD4	chr11:62360934-62361429	K562	blood:	n/a	n/a
45	POLR2A	chr11:62360876-62361423	PANC-1	pancreas:	n/a	n/a
46	POLR2A	chr11:62360860-62362022	SK-N-MC	brain:	n/a	n/a
47	POLR2A	chr11:62360902-62362081	GM12892	blood:	n/a	n/a
48	MYC	chr11:62360961-62361391	NB4	blood:	n/a	n/a
49	MAX	chr11:62360940-62361386	K562	blood:	n/a	n/a
50	POLR2A	chr11:62360703-62362256	K562	blood:	n/a	n/a

No data

(count:26 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:62359344..62361890-chr11:62648771..62650746,2	MCF-7	breast:
2	chr11:62313497..62315057-chr11:62360531..62363175,2	MCF-7	breast:
3	chr11:62360437..62361215-chr11:62379422..62380389,2	MCF-7	breast:
4	chr11:62357737..62360999-chr11:62607150..62610775,7	K562	blood:
5	chr11:62359162..62361796-chr6:30583818..30586376,2	K562	blood:
6	chr11:62337877..62349012-chr11:62352905..62362829,37	MCF-7	breast:
7	chr11:62358476..62361807-chr11:62553162..62555903,3	K562	blood:
8	chr11:62356516..62363396-chr11:62492172..62497480,8	K562	blood:
9	chr11:62357338..62362053-chr11:62606446..62610775,13	K562	blood:
10	chr11:62358650..62362308-chr11:62559226..62561722,3	MCF-7	breast:
11	chr11:62359506..62362353-chr11:62619695..62624770,4	K562	blood:
12	chr11:62357319..62362043-chr11:62437125..62441010,6	K562	blood:
13	chr11:62359743..62362742-chr11:62413942..62417266,4	MCF-7	breast:
14	chr11:62355264..62375429-chr11:62428418..62443271,77	MCF-7	breast:
15	chr11:62359992..62361676-chr11:62399707..62401374,2	MCF-7	breast:
16	chr11:62359035..62362581-chr11:62419336..62421874,4	K562	blood:
17	chr11:62359198..62361041-chr11:62437324..62439045,2	MCF-7	breast:
18	chr11:62356781..62364031-chr11:62570003..62574737,9	K562	blood:
19	chr11:62360489..62362247-chr11:62408764..62411725,2	MCF-7	breast:
20	chr11:62358185..62362116-chr11:62430559..62435536,12	MCF-7	breast:
21	chr11:62352847..62362753-chr11:62430170..62436741,21	K562	blood:
22	chr11:62355644..62361752-chr11:62377047..62383949,17	MCF-7	breast:
23	chr11:62359000..62361525-chr11:62472248..62475135,3	K562	blood:
24	chr11:62360488..62361634-chr11:62461945..62462707,3	MCF-7	breast:
25	chr11:62358215..62361190-chr11:62569453..62571733,2	K562	blood:
26	chr11:62319868..62323918-chr11:62358207..62361173,3	K562	blood:

No data

(count:1 , 50 per page) page: 1

No.	miRNA target gene	miRNA name	Chromosome Location	mirBase accession
1	MTA2	hsa-miR-34a-5p	chr11:62360943-62360964

Variant related genes	Relation type
TUT1	TF binding region
MIR3654	TF binding region
ENSG00000255717	Chromatin interaction
ENSG00000168569	Chromatin interaction
ENSG00000222894	Chromatin interaction
ENSG00000234857	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000162194	Chromatin interaction
ENSG00000255508	Chromatin interaction
ENSG00000185475	Chromatin interaction
ENSG00000204568	Chromatin interaction
ENSG00000089597	Chromatin interaction
ENSG00000254772	Chromatin interaction
ENSG00000206597	Chromatin interaction
ENSG00000269176	Chromatin interaction
ENSG00000162231	Chromatin interaction
ENSG00000162222	Chromatin interaction
ENSG00000204922	Chromatin interaction
ENSG00000162188	Chromatin interaction
ENSG00000255432	Chromatin interaction
ENSG00000204569	Chromatin interaction
ENSG00000124942	Chromatin interaction
ENSG00000168003	Chromatin interaction
ENSG00000168000	Chromatin interaction
ENSG00000149499	Chromatin interaction
ENSG00000149489	Chromatin interaction
ENSG00000149016	Chromatin interaction
ENSG00000185085	Chromatin interaction
ENSG00000214753	Chromatin interaction
ENSG00000214756	Chromatin interaction
MTA2	miRNA target site

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11231105	1.00[AMR][1000 genomes]
rs11231140	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12279778	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12280776	1.00[AMR][1000 genomes]
rs12283164	1.00[AMR][1000 genomes]
rs12287248	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17157361	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34709729	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55774907	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57293370	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57575327	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58479396	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59314885	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61524789	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7118805	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7126915	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73498073	1.00[AMR][1000 genomes]
rs73502133	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915636	chr11:62016992-62713565	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1441 gene(s)	inside rSNPs	diseases
2	nsv532283	chr11:62201358-62863475	Enhancers Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1433 gene(s)	inside rSNPs	diseases
3	nsv832180	chr11:62201605-62364828	Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
4	nsv532284	chr11:62220043-62630253	Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1401 gene(s)	inside rSNPs	diseases
5	esv3584599	chr11:62262742-62398050	Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
6	nsv832182	chr11:62295575-62462848	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	245 gene(s)	inside rSNPs	diseases
7	nsv825939	chr11:62326083-62410577	Flanking Active TSS Genic enhancers Strong transcription Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	122 gene(s)	inside rSNPs	diseases
8	nsv497903	chr11:62330308-62608042	Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	489 gene(s)	inside rSNPs	diseases
9	nsv555174	chr11:62334096-62496519	Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	243 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs60928821	ENSG00000149480	cis	multi-tissue	Pritchard

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:62359600-62361200	Enhancers	Spleen	Spleen
2	chr11:62359800-62361200	Weak transcription	Aorta	Aorta
3	chr11:62359800-62361200	Weak transcription	Ovary	ovary
4	chr11:62359800-62368200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr11:62360000-62361000	Enhancers	Primary B cells from peripheral blood	blood
6	chr11:62360000-62361000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
7	chr11:62360000-62361000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr11:62360000-62361000	Genic enhancers	Fetal Intestine Small	intestine
9	chr11:62360000-62361200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:62360000-62361200	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr11:62360000-62361200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr11:62360000-62361200	Enhancers	Fetal Kidney	kidney
13	chr11:62360000-62361400	Enhancers	Small Intestine	intestine
14	chr11:62360000-62361400	Transcr. at gene 5' and 3'	Dnd41	blood
15	chr11:62360000-62361600	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
16	chr11:62360000-62361600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr11:62360000-62361600	Enhancers	Fetal Brain Male	brain
18	chr11:62360000-62361600	Genic enhancers	Fetal Muscle Trunk	muscle
19	chr11:62360000-62361600	Genic enhancers	Fetal Thymus	thymus
20	chr11:62360000-62361600	Genic enhancers	NHEK	skin
21	chr11:62360000-62362000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr11:62360000-62364400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr11:62360200-62361000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr11:62360200-62361000	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr11:62360200-62361000	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr11:62360200-62361000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr11:62360200-62361000	Enhancers	Duodenum Mucosa	Duodenum
28	chr11:62360200-62361200	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr11:62360200-62361200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr11:62360200-62361200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr11:62360200-62361200	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr11:62360200-62361200	Enhancers	Primary B cells from cord blood	blood
33	chr11:62360200-62361200	Enhancers	Primary T cells from cord blood	blood
34	chr11:62360200-62361200	Enhancers	Primary hematopoietic stem cells	blood
35	chr11:62360200-62361200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
36	chr11:62360200-62361200	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr11:62360200-62361200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr11:62360200-62361200	Enhancers	Adipose Nuclei	Adipose
39	chr11:62360200-62361200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
40	chr11:62360200-62361200	Enhancers	Brain Substantia Nigra	brain
41	chr11:62360200-62361200	Weak transcription	Fetal Lung	lung
42	chr11:62360200-62361200	Weak transcription	Psoas Muscle	Psoas
43	chr11:62360200-62361400	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr11:62360200-62361400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
45	chr11:62360200-62361400	Enhancers	Primary T helper naive cells from peripheral blood	blood
46	chr11:62360200-62361400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
47	chr11:62360200-62361400	Enhancers	Primary T killer memory cells from peripheral blood	blood
48	chr11:62360200-62361400	Transcr. at gene 5' and 3'	Brain Germinal Matrix	brain
49	chr11:62360200-62361400	Genic enhancers	Fetal Muscle Leg	muscle
50	chr11:62360200-62361400	Genic enhancers	HMEC	breast

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