Variant report

Variant	rs655208
Chromosome Location	chr11:93517329-93517330
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:542)
CpG islands
(count:61)
Chromatin interactive
region (count:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:542 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:93517029-93518191	GM12892	blood:	n/a	n/a
2	CTCF	chr11:93517280-93517430	GM12874	blood:	n/a	chr11:93517340-93517358
3	MAX	chr11:93516973-93518180	MCF-7	breast:	n/a	n/a
4	STAT5A	chr11:93517027-93517820	GM12878	blood:	n/a	chr11:93517492-93517500
5	CTCF	chr11:93517100-93518366	GM12878	blood:	n/a	chr11:93517340-93517358
6	ELK1	chr11:93517092-93518304	Hela-S3	cervix:	n/a	chr11:93517405-93517414 chr11:93517405-93517414
7	RFX5	chr11:93517276-93518178	GM12878	blood:	n/a	chr11:93517502-93517511
8	CTCF	chr11:93517280-93517430	WERI-Rb-1	eye:	n/a	chr11:93517340-93517358
9	MXI1	chr11:93517089-93517621	K562	blood:	n/a	n/a
10	CTCF	chr11:93517220-93517370	HPAF	blood vessel:	n/a	chr11:93517340-93517358
11	TCF12	chr11:93517086-93517664	GM12878	blood:	n/a	n/a
12	POLR2A	chr11:93517058-93517797	SK-N-SH	brain:	n/a	n/a
13	POLR2A	chr11:93517292-93517739	HepG2	liver:	n/a	n/a
14	CTCF	chr11:93517240-93517390	HUVEC	blood vessel:	n/a	chr11:93517340-93517358
15	POLR2A	chr11:93516860-93518348	K562	blood:	n/a	n/a
16	ATF2	chr11:93517105-93517610	GM12878	blood:	n/a	n/a
17	E2F4	chr11:93517003-93518111	Hela-S3	cervix:	n/a	n/a
18	PML	chr11:93517067-93517643	GM12878	blood:	n/a	n/a
19	FOXM1	chr11:93516835-93518470	GM12878	blood:	n/a	n/a
20	FOXA1	chr11:93517177-93517535	HepG2	liver:	n/a	n/a
21	POLR2A	chr11:93516935-93518257	U87	brain:	n/a	n/a
22	RFX5	chr11:93517108-93518306	Hela-S3	cervix:	n/a	chr11:93517502-93517511
23	REST	chr11:93517037-93517874	PFSK-1	brain:	n/a	chr11:93517505-93517518 chr11:93517512-93517520
24	POLR2A	chr11:93517033-93518134	GM12878	blood:	n/a	n/a
25	ZC3H11A	chr11:93517325-93517638	K562	blood:	n/a	n/a
26	CTCF	chr11:93517211-93517527	K562	blood:	n/a	chr11:93517340-93517358
27	SIN3AK20	chr11:93517106-93517575	PFSK-1	brain:	n/a	n/a
28	CREB1	chr11:93517101-93518571	GM12878	blood:	n/a	n/a
29	MAX	chr11:93516964-93518431	Hela-S3	cervix:	n/a	n/a
30	CTCF	chr11:93517260-93517410	AG09309	skin:	n/a	chr11:93517340-93517358
31	CTCF	chr11:93517180-93517330	GM06990	blood:	n/a	n/a
32	MAX	chr11:93517017-93518389	Hela-S3	cervix:	n/a	n/a
33	E2F6	chr11:93516921-93517962	H1-hESC	embryonic stem cell:	n/a	chr11:93517336-93517347
34	GABPA	chr11:93517050-93518109	Hela-S3	cervix:	n/a	chr11:93517434-93517448 chr11:93517437-93517451
35	CEBPD	chr11:93517211-93517734	K562	blood:	n/a	n/a
36	CTCF	chr11:93517300-93517443	GM19240	blood:	n/a	chr11:93517340-93517358
37	ZBTB33	chr11:93517122-93517604	HCT-116	colon:	n/a	n/a
38	CTCF	chr11:93517300-93517450	HFF	foreskin:	n/a	chr11:93517340-93517358
39	CTCF	chr11:93517260-93517410	GM12864	blood:	n/a	chr11:93517340-93517358
40	CTCF	chr11:93517280-93517430	HCT-116	colon:	n/a	chr11:93517340-93517358
41	POLR2A	chr11:93516791-93518400	PFSK-1	brain:	n/a	n/a
42	POLR2A	chr11:93516848-93518476	MCF10A-Er-Src	breast:	n/a	n/a
43	NRF1	chr11:93517203-93517623	Hela-S3	cervix:	n/a	chr11:93517434-93517448 chr11:93517437-93517451
44	MAX	chr11:93517000-93518254	SK-N-SH	brain:	n/a	n/a
45	FOXA2	chr11:93517168-93517523	HepG2	liver:	n/a	n/a
46	CTCF	chr11:93517240-93517390	HRE	kidney:	n/a	chr11:93517340-93517358
47	MYC	chr11:93517102-93517568	MCF10A-Er-Src	breast:	n/a	n/a
48	CTCF	chr11:93517220-93517370	GM12875	blood:	n/a	chr11:93517340-93517358
49	MAX	chr11:93516956-93518212	ECC-1	luminal epithelium:	n/a	n/a
50	REST	chr11:93517228-93518261	H1-neurons	neurons:	n/a	chr11:93517505-93517518 chr11:93517512-93517520 chr11:93517972-93517982

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:93517310-93517360	NHBE	bronchial:	n/a
2	chr11:93517310-93517360	U87	brain:	n/a
3	chr11:93517310-93517360	ovcar-3	ovarian:	n/a
4	chr11:93517310-93517360	SK-N-SH	brain:	n/a
5	chr11:93517310-93517360	ECC-1	luminal epithelium:	n/a
6	chr11:93517310-93517360	NT2-D1	testis:	n/a
7	chr11:93517310-93517360	HCPEpiC	choroid plexus:	n/a
8	chr11:93517310-93517360	HMEC	breast:	n/a
9	chr11:93517310-93517360	H1-hESC	embryonic stem cell:	embryo
10	chr11:93517310-93517360	MCF10A-Er-Src	breast:	n/a
11	chr11:93517310-93517360	NH-A	brain:	n/a
12	chr11:93517310-93517360	NB4	blood:	n/a
13	chr11:93517310-93517360	Hela-S3	cervix:	n/a
14	chr11:93517310-93517360	SAEC	small airway:	n/a
15	chr11:93517310-93517360	HUVEC	blood vessel:	n/a
16	chr11:93517310-93517360	HIPEpiC	eye:	n/a
17	chr11:93517310-93517360	RPTEC	kidney:	n/a
18	chr11:93517310-93517360	Hepatocyte	liver:	n/a
19	chr11:93517310-93517360	HCM	heart:	n/a
20	chr11:93517310-93517360	HRCEpiC	kidney:	n/a
21	chr11:93517310-93517360	HNPCEpiC	eye:	n/a
22	chr11:93517310-93517360	MCF-7	breast:	n/a
23	chr11:93517310-93517360	CMK	blood:	n/a
24	chr11:93517310-93517360	IMR90	lung:	fetal
25	chr11:93517310-93517360	LNCaP	prostate:	n/a
26	chr11:93517310-93517360	A549	lung:	n/a
27	chr11:93517310-93517360	Jurkat	blood:	n/a
28	chr11:93517310-93517360	HRE	kidney:	n/a
29	chr11:93517310-93517360	K562	blood:	n/a
30	chr11:93517310-93517360	HCF	heart:	n/a
31	chr11:93517310-93517360	AG04449	skin:	fetal
32	chr11:93517310-93517360	GM12892	blood:	n/a
33	chr11:93517310-93517360	HL-60	blood:	n/a
34	chr11:93517310-93517360	HEEpiC	esophagus:	n/a
35	chr11:93517310-93517360	PrEC	prostate:	n/a
36	chr11:93517310-93517360	PANC-1	pancreas:	n/a
37	chr11:93517310-93517360	GM12878	blood:	n/a
38	chr11:93517310-93517360	SKMC	muscle:	n/a
39	chr11:93517310-93517360	PFSK-1	brain:	n/a
40	chr11:93517310-93517360	AG09319	gingival:	n/a
41	chr11:93517310-93517360	HRPEpiC	eye:	n/a
42	chr11:93517310-93517360	Caco-2	colon:	n/a
43	chr11:93517310-93517360	BJ	skin:	n/a
44	chr11:93517310-93517360	AG04450	lung:	fetal
45	chr11:93517310-93517360	AoSMC	blood vessel:	n/a
46	chr11:93517310-93517360	HCT-116	colon:	n/a
47	chr11:93517310-93517360	HEK293	kidney:	embryo
48	chr11:93517310-93517360	NHDF-neo	bronchial:	n/a
49	chr11:93517310-93517360	GM06990	blood:	n/a
50	chr11:93517310-93517360	GM19239	blood:	n/a

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:93517176..93518995-chr11:93554707..93558345,3	MCF-7	breast:
2	chr11:93392460..93395279-chr11:93515167..93518670,4	K562	blood:
3	chr1:26232386..26232948-chr11:93517188..93518175,2	NB4	blood:
4	chr11:93517049..93517735-chr12:39836994..39837530,2	Hela-S3	cervix:
5	chr11:93516997..93517591-chr19:10828741..10829245,2	NB4	blood:
6	chr11:93462890..93477443-chr11:93512595..93526939,73	K562	blood:
7	chr11:93468648..93476533-chr11:93513626..93520226,41	K562	blood:
8	chr11:93468490..93476714-chr11:93515963..93520210,25	MCF-7	breast:
9	chr11:93516885..93517418-chr12:7052863..7053759,2	Hela-S3	cervix:
10	chr11:93516606..93519025-chr11:93528430..93531862,4	MCF-7	breast:
11	chr11:93472800..93476056-chr11:93515203..93522725,16	MCF-7	breast:
12	chr1:11968042..11968612-chr11:93517177..93517830,2	Hela-S3	cervix:
13	chr11:93393142..93395279-chr11:93515864..93518097,3	K562	blood:
14	chr11:93516094..93517696-chr11:93525535..93527158,2	MCF-7	breast:
15	chr1:53662219..53662722-chr11:93516988..93517517,2	NB4	blood:
16	chr11:93516763..93517496-chr5:122110489..122111031,2	Hela-S3	cervix:
17	chr11:93459100..93466497-chr11:93514555..93520746,14	K562	blood:
18	chr11:93516890..93517521-chr13:111367237..111368055,2	NB4	blood:

No data

Variant related genes	Relation type
MED17	TF binding region
MED17	CpG island
ENSG00000206799	Chromatin interaction
ENSG00000210825	Chromatin interaction
ENSG00000042429	Chromatin interaction
ENSG00000264021	Chromatin interaction
ENSG00000117632	Chromatin interaction
ENSG00000221170	Chromatin interaction
ENSG00000207972	Chromatin interaction
ENSG00000153487	Chromatin interaction
ENSG00000238923	Chromatin interaction
ENSG00000214376	Chromatin interaction
ENSG00000182919	Chromatin interaction
ENSG00000199347	Chromatin interaction
ENSG00000238437	Chromatin interaction
ENSG00000207304	Chromatin interaction
ENSG00000111678	Chromatin interaction
ENSG00000202314	Chromatin interaction
ENSG00000239195	Chromatin interaction
ENSG00000139116	Chromatin interaction
ENSG00000207112	Chromatin interaction
ENSG00000079805	Chromatin interaction
ENSG00000157184	Chromatin interaction
ENSG00000207145	Chromatin interaction
ENSG00000166004	Chromatin interaction
ENSG00000205302	Chromatin interaction
ENSG00000206834	Chromatin interaction
ENSG00000166012	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10741468	1.00[EUR][1000 genomes]
rs10765632	1.00[EUR][1000 genomes]
rs10831087	1.00[EUR][1000 genomes]
rs1939566	1.00[EUR][1000 genomes]
rs2434983	0.91[ASW][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.92[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2508574	1.00[EUR][1000 genomes]
rs4284369	1.00[MEX][hapmap]
rs4595504	1.00[EUR][1000 genomes]
rs584474	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs592526	1.00[MEX][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs604414	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs607826	0.97[LWK][hapmap];1.00[MEX][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs614003	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs622231	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs624883	1.00[LWK][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6483257	1.00[EUR][1000 genomes]
rs6483263	1.00[EUR][1000 genomes]
rs653934	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs657177	1.00[MEX][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs660297	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs666470	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs669937	1.00[EUR][1000 genomes]
rs683660	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs694307	1.00[EUR][1000 genomes]
rs7123801	1.00[EUR][1000 genomes]
rs73561150	1.00[EUR][1000 genomes]
rs73561172	1.00[EUR][1000 genomes]
rs73563050	1.00[EUR][1000 genomes]
rs7939434	1.00[EUR][1000 genomes]
rs7940598	1.00[EUR][1000 genomes]

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	nsv898181	chr11:93072843-93662459	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	nsv898182	chr11:93381845-93637462	Strong transcription Genic enhancers Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	108 gene(s)	inside rSNPs	diseases
3	nsv832232	chr11:93401314-93549438	Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 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	chr11:93516600-93517400	Flanking Active TSS	Primary B cells from cord blood	blood
2	chr11:93516600-93517600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr11:93516600-93517600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr11:93516600-93518200	Active TSS	Primary T killer memory cells from peripheral blood	blood
5	chr11:93516600-93518200	Active TSS	Rectal Smooth Muscle	rectum
6	chr11:93516600-93518400	Active TSS	Duodenum Smooth Muscle	Duodenum
7	chr11:93516600-93518400	Active TSS	Sigmoid Colon	Sigmoid Colon
8	chr11:93516600-93518400	Active TSS	Osteobl	bone
9	chr11:93516600-93518600	Active TSS	HUES64 Cell Line	embryonic stem cell
10	chr11:93516600-93518600	Active TSS	iPS-18 Cell Line	embryonic stem cell
11	chr11:93516600-93518600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr11:93516600-93518600	Active TSS	Muscle Satellite Cultured Cells	--
13	chr11:93516600-93518600	Active TSS	Brain Anterior Caudate	brain
14	chr11:93516600-93518600	Active TSS	Brain Inferior Temporal Lobe	brain
15	chr11:93516600-93518600	Active TSS	Fetal Kidney	kidney
16	chr11:93516600-93518600	Active TSS	Small Intestine	intestine
17	chr11:93516600-93518800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr11:93516600-93518800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr11:93516600-93518800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr11:93516600-93518800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr11:93516600-93518800	Active TSS	Brain Angular Gyrus	brain
22	chr11:93516600-93518800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
23	chr11:93516600-93518800	Active TSS	NH-A	brain
24	chr11:93516600-93518800	Active TSS	NHLF	lung
25	chr11:93516600-93519000	Active TSS	H1 Cell Line	embryonic stem cell
26	chr11:93516600-93519000	Active TSS	HUES6 Cell Line	embryonic stem cell
27	chr11:93516600-93519200	Active TSS	iPS-15b Cell Line	embryonic stem cell
28	chr11:93516600-93519200	Active TSS	iPS-20b Cell Line	embryonic stem cell
29	chr11:93516600-93519400	Active TSS	HSMM	muscle
30	chr11:93516600-93519400	Active TSS	K562	blood
31	chr11:93516600-93519600	Active TSS	HUES48 Cell Line	embryonic stem cell
32	chr11:93516600-93519600	Active TSS	A549	lung
33	chr11:93516800-93517400	Flanking Active TSS	Primary hematopoietic stem cells	blood
34	chr11:93516800-93517600	Active TSS	Primary T helper naive cells fromperipheralblood	blood
35	chr11:93516800-93517600	Active TSS	Brain Germinal Matrix	brain
36	chr11:93516800-93518000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr11:93516800-93518000	Active TSS	Primary T helper cells fromperipheralblood	blood
38	chr11:93516800-93518200	Active TSS	Brain Hippocampus Middle	brain
39	chr11:93516800-93518200	Active TSS	Brain Substantia Nigra	brain
40	chr11:93516800-93518400	Active TSS	Thymus	Thymus
41	chr11:93516800-93518600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
42	chr11:93516800-93518600	Active TSS	Colon Smooth Muscle	Colon
43	chr11:93516800-93518600	Active TSS	Fetal Brain Male	brain
44	chr11:93516800-93518600	Active TSS	Fetal Heart	heart
45	chr11:93516800-93518600	Active TSS	Placenta Amnion	Placenta Amnion
46	chr11:93516800-93518800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr11:93516800-93518800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
48	chr11:93516800-93518800	Active TSS	Fetal Intestine Small	intestine
49	chr11:93516800-93518800	Active TSS	Fetal Muscle Trunk	muscle
50	chr11:93516800-93518800	Active TSS	Fetal Muscle Leg	muscle

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