Variant report

Variant	rs17637597
Chromosome Location	chr11:62438750-62438751
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:249)
CpG islands
(count:0)
Chromatin interactive
region (count:53)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:249 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HDAC2	chr11:62438619-62439329	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr11:62438714-62439991	GM12878	blood:	n/a	n/a
3	YY1	chr11:62438341-62439992	SK-N-SH	brain:	n/a	chr11:62439169-62439180 chr11:62439901-62439915
4	HMGN3	chr11:62438746-62439974	K562	blood:	n/a	n/a
5	SMARCB1	chr11:62438709-62440050	Hela-S3	cervix:	n/a	n/a
6	BCL3	chr11:62438631-62439934	A549	lung:	n/a	n/a
7	MAX	chr11:62438314-62440810	HCT-116	colon:	n/a	n/a
8	POLR2A	chr11:62438593-62439957	HepG2	liver:	n/a	n/a
9	YY1	chr11:62438650-62439608	A549	lung:	n/a	chr11:62439169-62439180
10	POLR2A	chr11:62438587-62440094	U87	brain:	n/a	n/a
11	EP300	chr11:62438677-62439354	T-47D	breast:	n/a	chr11:62439169-62439185
12	MXI1	chr11:62438538-62440102	K562	blood:	n/a	n/a
13	MAX	chr11:62438572-62440041	Hela-S3	cervix:	n/a	n/a
14	TAF7	chr11:62438667-62439557	H1-hESC	embryonic stem cell:	n/a	n/a
15	TAF1	chr11:62438607-62439974	Hela-S3	cervix:	n/a	n/a
16	GABPA	chr11:62438601-62440021	MCF-7	breast:	n/a	chr11:62439904-62439913
17	MYC	chr11:62438643-62439427	MCF10A-Er-Src	breast:	n/a	n/a
18	JUND	chr11:62438707-62440068	K562	blood:	n/a	n/a
19	RUNX3	chr11:62438325-62440152	GM12878	blood:	n/a	chr11:62438836-62438851
20	MYC	chr11:62438627-62440114	K562	blood:	n/a	n/a
21	TAF1	chr11:62438631-62439971	H1-hESC	embryonic stem cell:	n/a	n/a
22	MAX	chr11:62438396-62440064	K562	blood:	n/a	n/a
23	SMC3	chr11:62438734-62439817	Hela-S3	cervix:	n/a	n/a
24	YY1	chr11:62438721-62439939	GM12878	blood:	n/a	chr11:62439169-62439180 chr11:62439901-62439915
25	SP2	chr11:62438659-62439522	HepG2	liver:	n/a	n/a
26	POLR2A	chr11:62438315-62439987	Hela-S3	cervix:	n/a	n/a
27	CUX1	chr11:62438605-62439375	K562	blood:	n/a	n/a
28	STAT5A	chr11:62438618-62439556	K562	blood:	n/a	n/a
29	UBTF	chr11:62438517-62440017	K562	blood:	n/a	n/a
30	POLR2A	chr11:62438640-62440222	MCF-7	breast:	n/a	n/a
31	PBX3	chr11:62438736-62440055	A549	lung:	n/a	n/a
32	ZNF263	chr11:62438743-62439937	HEK293-T-REx	kidney:	n/a	n/a
33	SIN3A	chr11:62438621-62439911	GM12878	blood:	n/a	chr11:62439169-62439180
34	CEBPB	chr11:62438685-62439418	Hela-S3	cervix:	n/a	n/a
35	POLR2A	chr11:62438555-62440025	GM12891	blood:	n/a	n/a
36	NR2F2	chr11:62438637-62441039	K562	blood:	n/a	chr11:62440899-62440914
37	TEAD4	chr11:62438359-62440199	K562	blood:	n/a	n/a
38	RCOR1	chr11:62438577-62440075	K562	blood:	n/a	n/a
39	GABPA	chr11:62438711-62440029	SK-N-SH	brain:	n/a	chr11:62439904-62439913
40	TCF12	chr11:62438405-62440130	A549	lung:	n/a	n/a
41	MAX	chr11:62438683-62438913	K562	blood:	n/a	n/a
42	TRIM28	chr11:62438309-62440099	K562	blood:	n/a	n/a
43	REST	chr11:62438678-62438867	A549	lung:	n/a	n/a
44	MYC	chr11:62438612-62439322	H1-hESC	embryonic stem cell:	n/a	n/a
45	MYC	chr11:62438455-62440114	K562	blood:	n/a	n/a
46	TAF1	chr11:62438594-62439958	ECC-1	luminal epithelium:	n/a	n/a
47	RCOR1	chr11:62438692-62439929	K562	blood:	n/a	n/a
48	GTF3C2	chr11:62438010-62439580	K562	blood:	n/a	n/a
49	BCLAF1	chr11:62438661-62440080	GM12878	blood:	n/a	n/a
50	ATF3	chr11:62438740-62439423	A549	lung:	n/a	n/a

No data

(count:53 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr11:62398695..62402146-chr11:62437688..62440661,4	MCF-7	breast:
2	chr11:61196244..61197986-chr11:62438417..62440455,2	MCF-7	breast:
3	chr11:62431946..62440629-chr11:62523095..62533975,14	K562	blood:
4	chr11:62357027..62359159-chr11:62437466..62439059,2	MCF-7	breast:
5	chr11:62401244..62403243-chr11:62438042..62440764,2	MCF-7	breast:
6	chr11:62437407..62441142-chr11:62472174..62474632,6	K562	blood:
7	chr11:62385249..62394022-chr11:62430274..62439840,30	K562	blood:
8	chr11:62438642..62439594-chr15:48623225..48624075,2	Hela-S3	cervix:
9	chr11:62437394..62440869-chr11:62646713..62650476,3	MCF-7	breast:
10	chr11:62373062..62383315-chr11:62429730..62439835,25	MCF-7	breast:
11	chr11:62431329..62439956-chr11:62534683..62540515,15	K562	blood:
12	chr11:62437902..62440442-chr11:62649124..62651386,2	K562	blood:
13	chr11:62437831..62441395-chr11:62457569..62460613,4	MCF-7	breast:
14	chr11:62437850..62439448-chr11:62457441..62459643,2	MCF-7	breast:
15	chr11:62337874..62344185-chr11:62431132..62441783,22	K562	blood:
16	chr11:62436186..62443328-chr11:62605173..62609692,11	MCF-7	breast:
17	chr11:62437179..62441189-chr11:62491770..62496446,10	K562	blood:
18	chr11:62437536..62440497-chr11:62572086..62574546,2	K562	blood:
19	chr1:234859527..234861262-chr11:62438625..62440198,2	MCF-7	breast:
20	chr11:62373213..62382341-chr11:62430187..62440422,29	K562	blood:
21	chr11:62388014..62391477-chr11:62437916..62440907,4	MCF-7	breast:
22	chr11:62378546..62380116-chr11:62436360..62439103,2	MCF-7	breast:
23	chr11:62339404..62343149-chr11:62437801..62441524,6	MCF-7	breast:
24	chr11:62437710..62440274-chr11:62620647..62623771,3	MCF-7	breast:
25	chr11:62365089..62370067-chr11:62436026..62441323,7	K562	blood:
26	chr11:62438121..62439741-chr11:62537065..62539203,2	K562	blood:
27	chr11:62437956..62440690-chr11:62471946..62474260,6	MCF-7	breast:
28	chr11:62357319..62360814-chr11:62437164..62440854,7	K562	blood:
29	chr11:62437818..62440544-chr11:62462109..62463883,3	K562	blood:
30	chr11:62437650..62440522-chr11:62470296..62474639,5	K562	blood:
31	chr11:62406539..62408693-chr11:62437828..62440154,2	MCF-7	breast:
32	chr11:62359198..62361041-chr11:62437324..62439045,2	MCF-7	breast:
33	chr11:62437470..62440242-chr11:62620623..62623649,4	K562	blood:
34	chr11:62438216..62442259-chr11:62472089..62478443,13	MCF-7	breast:
35	chr11:62430854..62442244-chr11:62606149..62611424,26	K562	blood:
36	chr11:62362631..62371847-chr11:62427548..62442313,26	MCF-7	breast:
37	chr11:62436416..62439082-chr11:62606884..62609041,4	MCF-7	breast:
38	chr11:62436644..62439359-chr11:62646545..62649165,3	MCF-7	breast:
39	chr11:62357319..62362043-chr11:62437125..62441010,6	K562	blood:
40	chr11:62437275..62439267-chr11:62553452..62555384,2	MCF-7	breast:
41	chr11:62362245..62364741-chr11:62437553..62440349,2	K562	blood:
42	chr11:62339758..62342411-chr11:62437279..62439132,3	MCF-7	breast:
43	chr11:62355264..62375429-chr11:62428418..62443271,77	MCF-7	breast:
44	chr11:62436333..62448417-chr11:62605662..62610542,19	K562	blood:
45	chr11:62429368..62441438-chr11:62488512..62498189,36	K562	blood:
46	chr11:62368131..62371520-chr11:62438403..62441108,5	K562	blood:
47	chr11:62438253..62439957-chr11:62553484..62555003,2	K562	blood:
48	chr11:62431330..62441336-chr11:62489515..62497875,29	MCF-7	breast:
49	chr11:62437834..62441678-chr11:62528022..62529597,3	MCF-7	breast:
50	chr11:62407005..62417562-chr11:62426315..62441135,36	MCF-7	breast:

No data

Variant related genes	Relation type
C11orf48	TF binding region
C11orf83	TF binding region
ENSG00000128951	Chromatin interaction
ENSG00000269176	Chromatin interaction
ENSG00000163686	Chromatin interaction
ENSG00000267811	Chromatin interaction
ENSG00000149499	Chromatin interaction
ENSG00000149489	Chromatin interaction
ENSG00000162188	Chromatin interaction
ENSG00000214753	Chromatin interaction
ENSG00000124942	Chromatin interaction
ENSG00000256591	Chromatin interaction
ENSG00000149541	Chromatin interaction
ENSG00000162227	Chromatin interaction
ENSG00000089597	Chromatin interaction
ENSG00000227630	Chromatin interaction
ENSG00000257058	Chromatin interaction
ENSG00000254964	Chromatin interaction
ENSG00000168000	Chromatin interaction
ENSG00000255508	Chromatin interaction
ENSG00000167985	Chromatin interaction
ENSG00000162222	Chromatin interaction
ENSG00000254772	Chromatin interaction
ENSG00000185475	Chromatin interaction
ENSG00000162231	Chromatin interaction
ENSG00000168002	Chromatin interaction
ENSG00000255717	Chromatin interaction
ENSG00000168003	Chromatin interaction
ENSG00000149016	Chromatin interaction
ENSG00000133316	Chromatin interaction
ENSG00000149532	Chromatin interaction
ENSG00000234857	Chromatin interaction
ENSG00000149480	Chromatin interaction
ENSG00000259488	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10792355	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10792356	0.91[CEU][hapmap];0.89[CHB][hapmap];0.82[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10897289	0.86[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs11231172	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11231173	0.97[ASN][1000 genomes]
rs11231176	0.95[CEU][hapmap];1.00[CHB][hapmap];0.97[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11231181	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11231182	0.82[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11231183	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11231184	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12291465	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12364753	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12364756	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13941	0.91[CEU][hapmap];0.89[CHB][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1893458	0.87[ASN][1000 genomes]
rs2956993	0.86[CHB][hapmap];0.82[JPT][hapmap];0.87[ASN][1000 genomes]
rs2956995	0.87[ASN][1000 genomes]
rs3017188	0.81[ASN][1000 genomes]
rs3018561	0.86[CHB][hapmap];0.82[JPT][hapmap]
rs3809079	0.91[CEU][hapmap];0.86[CHB][hapmap];0.82[JPT][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4489748	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs489778	0.91[CEU][hapmap];0.89[CHB][hapmap];0.82[JPT][hapmap];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs597259	0.91[CEU][hapmap];0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60435036	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs644616	0.91[CEU][hapmap];0.86[CHB][hapmap];0.82[JPT][hapmap]
rs661182	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs67909703	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs693698	0.91[CEU][hapmap];0.86[CHB][hapmap];0.82[JPT][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7122950	0.80[ASN][1000 genomes]
rs71462310	0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs71490396	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs71490397	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7949030	0.86[CHB][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs9736354	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	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
4	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
5	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
6	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:4)

SNP	Gene	Cis/trans	Tissue	Source
rs17637597	FLJ35827	cis	multi-tissue	Pritchard
rs17637597	EML3	cis	uninvolved skin	skin_eQTL
rs17637597	EML3	cis	Esophagus Mucosa	GTEx
rs17637597	EML3	cis	multi-tissue	Pritchard

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:62437000-62438800	Enhancers	Sigmoid Colon	Sigmoid Colon
2	chr11:62437000-62439200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr11:62437200-62440000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr11:62437600-62438800	Enhancers	Spleen	Spleen
5	chr11:62437800-62440200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr11:62437800-62440200	Active TSS	K562	blood
7	chr11:62438000-62438800	Flanking Active TSS	Dnd41	blood
8	chr11:62438000-62439000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr11:62438000-62439000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr11:62438000-62439000	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr11:62438000-62440400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr11:62438000-62440400	Active TSS	GM12878-XiMat	blood
13	chr11:62438200-62438800	Flanking Active TSS	Duodenum Mucosa	Duodenum
14	chr11:62438200-62438800	Flanking Active TSS	HSMM	muscle
15	chr11:62438200-62439200	Active TSS	Brain Germinal Matrix	brain
16	chr11:62438200-62440200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr11:62438400-62438800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr11:62438400-62438800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr11:62438400-62438800	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr11:62438400-62438800	Flanking Active TSS	Primary T cells from cord blood	blood
21	chr11:62438400-62438800	Flanking Active TSS	Primary hematopoietic stem cells	blood
22	chr11:62438400-62438800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
23	chr11:62438400-62438800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
24	chr11:62438400-62438800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
25	chr11:62438400-62438800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
26	chr11:62438400-62438800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
27	chr11:62438400-62438800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
28	chr11:62438400-62438800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
29	chr11:62438400-62438800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
30	chr11:62438400-62438800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
31	chr11:62438400-62438800	Flanking Active TSS	Adipose Nuclei	Adipose
32	chr11:62438400-62438800	Flanking Active TSS	Brain Anterior Caudate	brain
33	chr11:62438400-62438800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
34	chr11:62438400-62438800	Flanking Active TSS	Brain Substantia Nigra	brain
35	chr11:62438400-62438800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
36	chr11:62438400-62438800	Flanking Active TSS	Fetal Heart	heart
37	chr11:62438400-62438800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
38	chr11:62438400-62438800	Enhancers	Small Intestine	intestine
39	chr11:62438400-62438800	Flanking Active TSS	Hela-S3	cervix
40	chr11:62438400-62438800	Flanking Active TSS	HepG2	liver
41	chr11:62438400-62438800	Flanking Active TSS	HUVEC	blood vessel
42	chr11:62438400-62438800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
43	chr11:62438400-62438800	Flanking Active TSS	NH-A	brain
44	chr11:62438400-62439000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr11:62438400-62439000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
46	chr11:62438400-62439000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
47	chr11:62438400-62439000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
48	chr11:62438400-62439000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
49	chr11:62438400-62439000	Flanking Active TSS	Liver	Liver
50	chr11:62438400-62439000	Flanking Active TSS	Fetal Brain Female	brain

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