Variant report

Variant	rs1317775
Chromosome Location	chr11:102217806-102217807
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	TAF1	chr11:102217457-102218352	K562	blood:	n/a	n/a
2	ARID3A	chr11:102217614-102218049	HepG2	liver:	n/a	n/a
3	SMC3	chr11:102217731-102218024	K562	blood:	n/a	n/a
4	ATF3	chr11:102217610-102218088	H1-hESC	embryonic stem cell:	n/a	chr11:102217936-102217947 chr11:102217935-102217948 chr11:102217934-102217949 chr11:102217938-102217948 chr11:102217935-102217945 chr11:102217938-102217945 chr11:102217938-102217946 chr11:102217934-102217947 chr11:102217935-102217946 chr11:102217935-102217948 chr11:102217937-102217948 chr11:102217936-102217949 chr11:102217926-102217946 chr11:102217935-102217945 chr11:102217936-102217947 chr11:102217938-102217948
5	ELK1	chr11:102217470-102218336	GM12878	blood:	n/a	n/a
6	RAD21	chr11:102217679-102218089	HepG2	liver:	n/a	n/a
7	HDAC2	chr11:102217740-102218244	K562	blood:	n/a	n/a
8	CEBPB	chr11:102217772-102217976	H1-hESC	embryonic stem cell:	n/a	n/a
9	YY1	chr11:102217518-102218224	GM12878	blood:	n/a	chr11:102217972-102217981
10	CTCF	chr11:102217289-102219193	SK-N-SH	brain:	n/a	n/a
11	PBX3	chr11:102217313-102218162	SK-N-SH	brain:	n/a	n/a
12	CTCF	chr11:102217764-102218037	MCF-7	breast:	n/a	n/a
13	GABPA	chr11:102217730-102218070	Hela-S3	cervix:	n/a	chr11:102217867-102217874
14	MAZ	chr11:102217431-102218269	HepG2	liver:	n/a	chr11:102217767-102217778 chr11:102218136-102218145
15	IRF1	chr11:102217099-102218177	K562	blood:	n/a	chr11:102217864-102217884 chr11:102217377-102217388 chr11:102217376-102217389 chr11:102217377-102217389 chr11:102217295-102217307 chr11:102217377-102217390 chr11:102217860-102217877 chr11:102217295-102217307 chr11:102217376-102217390 chr11:102217377-102217390 chr11:102217377-102217391 chr11:102217377-102217389 chr11:102217375-102217389
16	CTCF	chr11:102217720-102218014	A549	lung:	n/a	n/a
17	CTCF	chr11:102217706-102218061	Fibrobl	skin:	n/a	n/a
18	MAX	chr11:102217256-102218105	SK-N-SH	brain:	n/a	chr11:102217767-102217778
19	JUN	chr11:102217751-102218053	H1-hESC	embryonic stem cell:	n/a	chr11:102217937-102217946 chr11:102217933-102217946
20	UBTF	chr11:102217325-102218356	K562	blood:	n/a	n/a
21	CTCF	chr11:102217800-102217950	HMEC	breast:	n/a	n/a
22	TCF7L2	chr11:102217391-102218113	Hela-S3	cervix:	n/a	n/a
23	POLR2A	chr11:102217272-102218379	K562	blood:	n/a	n/a
24	PBX3	chr11:102217135-102218255	SK-N-SH	brain:	n/a	n/a
25	TEAD4	chr11:102217200-102218087	HepG2	liver:	n/a	n/a
26	RAD21	chr11:102217677-102218072	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr11:102217511-102218317	MCF-7	breast:	n/a	n/a
28	ETS1	chr11:102217647-102218240	K562	blood:	n/a	n/a
29	HNF4G	chr11:102217724-102218586	HepG2	liver:	n/a	chr11:102218378-102218393 chr11:102218373-102218386 chr11:102218377-102218395 chr11:102218379-102218393 chr11:102218368-102218390 chr11:102218379-102218392 chr11:102218380-102218392 chr11:102218377-102218385 chr11:102218372-102218385 chr11:102218378-102218393 chr11:102218380-102218392 chr11:102218372-102218386 chr11:102218373-102218385 chr11:102218380-102218392 chr11:102218373-102218386 chr11:102218378-102218393 chr11:102218373-102218385 chr11:102218379-102218387 chr11:102218380-102218392 chr11:102218231-102218245
30	PAX5	chr11:102217442-102218136	GM12878	blood:	n/a	chr11:102217677-102217686 chr11:102217864-102217883 chr11:102217894-102217903
31	FOXP2	chr11:102217688-102218146	SK-N-MC	brain:	n/a	n/a
32	YY1	chr11:102217336-102218297	K562	blood:	n/a	chr11:102217972-102217981
33	CTCF	chr11:102217688-102218059	GM19238	blood:	n/a	n/a
34	CTCF	chr11:102217700-102218062	T-47D	breast:	n/a	n/a
35	POLR2A	chr11:102216423-102218393	HUVEC	blood vessel:	n/a	n/a
36	USF1	chr11:102217555-102217981	H1-hESC	embryonic stem cell:	n/a	n/a
37	GABPA	chr11:102217632-102218285	MCF-7	breast:	n/a	chr11:102217867-102217874
38	CTCF	chr11:102217780-102217930	NHEK	skin:	n/a	n/a
39	KAP1	chr11:102217250-102218030	HEK293	kidney:	n/a	n/a
40	POLR2A	chr11:102217333-102218351	Raji	blood:	n/a	n/a
41	TAL1	chr11:102217646-102218099	K562	blood:	n/a	n/a
42	FOXA2	chr11:102217346-102218154	A549	lung:	n/a	n/a
43	REST	chr11:102217670-102218153	PANC-1	pancreas:	n/a	n/a
44	PML	chr11:102217293-102218380	GM12878	blood:	n/a	n/a
45	GABPA	chr11:102217595-102218379	K562	blood:	n/a	chr11:102217867-102217874
46	CTCF	chr11:102217800-102217950	GM12878	blood:	n/a	n/a
47	USF1	chr11:102217720-102218010	A549	lung:	n/a	n/a
48	POLR2A	chr11:102217459-102218228	A549	lung:	n/a	n/a
49	GABPA	chr11:102217503-102218156	A549	lung:	n/a	chr11:102217867-102217874
50	CTCF	chr11:102217800-102217950	GM12864	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:102217781-102217831	PrEC	prostate:	n/a
2	chr11:102217781-102217831	BE2_C	brain:	n/a
3	chr11:102217788-102217838	HIPEpiC	eye:	n/a
4	chr11:102217788-102217838	AG09319	gingival:	n/a
5	chr11:102217788-102217838	PANC-1	pancreas:	n/a
6	chr11:102217788-102217838	CMK	blood:	n/a
7	chr11:102217788-102217838	HepG2	liver:	n/a
8	chr11:102217788-102217838	HMEC	breast:	n/a
9	chr11:102217781-102217831	GM12878	blood:	n/a
10	chr11:102217781-102217831	HepG2	liver:	n/a
11	chr11:102217788-102217838	HRE	kidney:	n/a
12	chr11:102217781-102217831	HL-60	blood:	n/a
13	chr11:102217788-102217838	MCF10A-Er-Src	breast:	n/a
14	chr11:102217788-102217838	PFSK-1	brain:	n/a
15	chr11:102217781-102217831	AG09309	skin:	n/a
16	chr11:102217781-102217831	SK-N-MC	brain:	n/a
17	chr11:102217788-102217838	ECC-1	luminal epithelium:	n/a
18	chr11:102217781-102217831	GM12892	blood:	n/a
19	chr11:102217788-102217838	Caco-2	colon:	n/a
20	chr11:102217781-102217831	SAEC	small airway:	n/a
21	chr11:102217788-102217838	ovcar-3	ovarian:	n/a
22	chr11:102217781-102217831	BJ	skin:	n/a
23	chr11:102217781-102217831	HCF	heart:	n/a
24	chr11:102217788-102217838	GM12891	blood:	n/a
25	chr11:102217781-102217831	Hepatocyte	liver:	n/a
26	chr11:102217788-102217838	HCPEpiC	choroid plexus:	n/a
27	chr11:102217788-102217838	Hela-S3	cervix:	n/a
28	chr11:102217781-102217831	HMEC	breast:	n/a
29	chr11:102217788-102217838	NHBE	bronchial:	n/a
30	chr11:102217781-102217831	LNCaP	prostate:	n/a
31	chr11:102217788-102217838	MCF-7	breast:	n/a
32	chr11:102217788-102217838	LNCaP	prostate:	n/a
33	chr11:102217788-102217838	SK-N-SH	brain:	n/a
34	chr11:102217788-102217838	NT2-D1	testis:	n/a
35	chr11:102217788-102217838	SAEC	small airway:	n/a
36	chr11:102217788-102217838	SK-N-MC	brain:	n/a
37	chr11:102217788-102217838	IMR90	lung:	fetal
38	chr11:102217781-102217831	H1-hESC	embryonic stem cell:	embryo
39	chr11:102217788-102217838	BJ	skin:	n/a
40	chr11:102217788-102217838	HNPCEpiC	eye:	n/a
41	chr11:102217781-102217831	HAEpiC	amniotic membrane:	n/a
42	chr11:102217781-102217831	NT2-D1	testis:	n/a
43	chr11:102217781-102217831	SK-N-SH_RA	brain:	n/a
44	chr11:102217788-102217838	BE2_C	brain:	n/a
45	chr11:102217788-102217838	K562	blood:	n/a
46	chr11:102217781-102217831	ECC-1	luminal epithelium:	n/a
47	chr11:102217788-102217838	HPAEpiC	pulmonary alveolar:	n/a
48	chr11:102217788-102217838	U87	brain:	n/a
49	chr11:102217781-102217831	GM06990	blood:	n/a
50	chr11:102217788-102217838	GM12892	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:102215215..102219130-chr11:102321135..102324493,6	K562	blood:
2	chr11:102216212..102220028-chr11:102319803..102324997,8	K562	blood:
3	chr11:102217363..102222814-chr11:102227902..102233521,10	K562	blood:
4	chr11:102217672..102219340-chr11:102322046..102323844,2	MCF-7	breast:
5	chr11:77348140..77348925-chr11:102217699..102218414,2	HCT-116	colon:
6	chr11:102215581..102217934-chr11:102261718..102263770,2	K562	blood:

Variant related genes	Relation type
BIRC2	TF binding region
BIRC2	CpG island
ENSG00000074201	Chromatin interaction
ENSG00000110330	Chromatin interaction
ENSG00000255337	Chromatin interaction
ENSG00000152558	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10219215	0.85[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.89[TSI][hapmap]
rs1058606	1.00[CEU][hapmap]
rs10895296	1.00[CEU][hapmap]
rs11225235	0.85[CEU][hapmap]
rs11225237	1.00[CEU][hapmap]
rs11225242	1.00[CEU][hapmap]
rs11225244	1.00[CEU][hapmap]
rs11225247	1.00[CEU][hapmap]
rs11547915	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.89[TSI][hapmap]
rs11601671	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap]
rs11604008	1.00[CEU][hapmap]
rs11604189	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap]
rs11605066	1.00[CEU][hapmap]
rs11605133	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap]
rs11607908	1.00[CEU][hapmap]
rs12271457	1.00[CEU][hapmap];0.91[YRI][hapmap]
rs12274405	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[LWK][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap]
rs12275185	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap]
rs12275349	0.85[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.89[TSI][hapmap]
rs12277594	1.00[CEU][hapmap]
rs12277747	1.00[CEU][hapmap]
rs12277853	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[TSI][hapmap]
rs12279056	1.00[CEU][hapmap]
rs12283885	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap]
rs12293094	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.89[TSI][hapmap]
rs12293834	1.00[CEU][hapmap]
rs12792649	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap]
rs17349689	1.00[CEU][hapmap]
rs17350205	1.00[CEU][hapmap]
rs17350590	1.00[CEU][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap]
rs1943781	1.00[CHD][hapmap]
rs34740624	1.00[CHD][hapmap]
rs525305	1.00[CHD][hapmap]
rs637708	1.00[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052348	chr11:101987090-102255753	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
2	nsv1050961	chr11:101993880-102253717	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv1051735	chr11:101993880-102255753	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv530646	chr11:102000840-102238992	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	esv3514195	chr11:102118479-102348362	Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	esv3514197	chr11:102118479-102348362	ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	esv3384244	chr11:102195350-102220898	Active TSS Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	esv1839485	chr11:102207851-102220279	Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 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	chr11:102216200-102219600	Active TSS	A549	lung
2	chr11:102216400-102218800	Active TSS	HUES64 Cell Line	embryonic stem cell
3	chr11:102216400-102219200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr11:102216400-102219600	Active TSS	K562	blood
5	chr11:102216400-102219600	Active TSS	NHLF	lung
6	chr11:102216600-102218600	Active TSS	Brain Angular Gyrus	brain
7	chr11:102216600-102219200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr11:102216600-102219200	Active TSS	Colonic Mucosa	Colon
9	chr11:102216600-102219200	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr11:102216600-102219400	Active TSS	Stomach Smooth Muscle	stomach
11	chr11:102216600-102219600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr11:102216600-102219600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr11:102216600-102219800	Active TSS	NHDF-Ad	bronchial
14	chr11:102216600-102220000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr11:102216600-102220200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr11:102216600-102220600	Active TSS	Breast Myoepithelial Primary Cells	Breast
17	chr11:102216800-102218800	Active TSS	iPS-15b Cell Line	embryonic stem cell
18	chr11:102216800-102219000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr11:102216800-102219000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr11:102216800-102219000	Active TSS	NHEK	skin
21	chr11:102216800-102219200	Active TSS	ES-I3 Cell Line	embryonic stem cell
22	chr11:102216800-102219200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
23	chr11:102216800-102219200	Active TSS	Aorta	Aorta
24	chr11:102216800-102219200	Active TSS	Fetal Muscle Trunk	muscle
25	chr11:102216800-102219200	Active TSS	Placenta Amnion	Placenta Amnion
26	chr11:102216800-102219400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr11:102216800-102219400	Active TSS	HSMMtube	muscle
28	chr11:102216800-102219400	Active TSS	Osteobl	bone
29	chr11:102216800-102219600	Active TSS	iPS-20b Cell Line	embryonic stem cell
30	chr11:102216800-102219600	Active TSS	Fetal Brain Female	brain
31	chr11:102216800-102219600	Active TSS	HSMM	muscle
32	chr11:102216800-102220000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr11:102216800-102220000	Active TSS	Right Atrium	heart
34	chr11:102217000-102218600	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
35	chr11:102217000-102218800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr11:102217000-102218800	Active TSS	Fetal Muscle Leg	muscle
37	chr11:102217000-102218800	Active TSS	Rectal Mucosa Donor 31	rectum
38	chr11:102217000-102219000	Active TSS	Cortex derived primary cultured neurospheres	brain
39	chr11:102217000-102219000	Active TSS	Brain Anterior Caudate	brain
40	chr11:102217000-102219200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr11:102217000-102219200	Active TSS	HUES6 Cell Line	embryonic stem cell
42	chr11:102217000-102219200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr11:102217000-102219200	Active TSS	Fetal Kidney	kidney
44	chr11:102217000-102219200	Active TSS	Placenta	Placenta
45	chr11:102217000-102219200	Active TSS	Left Ventricle	heart
46	chr11:102217000-102219200	Active TSS	Psoas Muscle	Psoas
47	chr11:102217000-102219200	Active TSS	Right Ventricle	heart
48	chr11:102217000-102219200	Active TSS	Small Intestine	intestine
49	chr11:102217000-102219400	Active TSS	Duodenum Mucosa	Duodenum
50	chr11:102217000-102219600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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