Variant report

Variant	rs11156909
Chromosome Location	chr14:36783468-36783469
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:61)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr14:36783126-36783496	K562	blood:	n/a	chr14:36783295-36783316
2	CTCF	chr14:36783380-36783530	RPTEC	kidney:	n/a	n/a
3	CTCF	chr14:36783051-36783540	MCF-7	breast:	n/a	chr14:36783295-36783316
4	EP300	chr14:36783441-36783495	K562	blood:	n/a	n/a
5	RAD21	chr14:36783103-36783480	H1-hESC	embryonic stem cell:	n/a	chr14:36783298-36783317

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr14:36783435-36783485	BE2_C	brain:	n/a
2	chr14:36783435-36783485	GM06990	blood:	n/a
3	chr14:36783435-36783485	GM19239	blood:	n/a
4	chr14:36783435-36783485	HAEpiC	amniotic membrane:	n/a
5	chr14:36783435-36783485	HUVEC	blood vessel:	n/a
6	chr14:36783435-36783485	CMK	blood:	n/a
7	chr14:36783435-36783485	U87	brain:	n/a
8	chr14:36783435-36783485	Hela-S3	cervix:	n/a
9	chr14:36783435-36783485	HRCEpiC	kidney:	n/a
10	chr14:36783435-36783485	Jurkat	blood:	n/a
11	chr14:36783435-36783485	AoSMC	blood vessel:	n/a
12	chr14:36783435-36783485	PrEC	prostate:	n/a
13	chr14:36783435-36783485	AG04449	skin:	fetal
14	chr14:36783435-36783485	IMR90	lung:	fetal
15	chr14:36783435-36783485	ovcar-3	ovarian:	n/a
16	chr14:36783435-36783485	BJ	skin:	n/a
17	chr14:36783435-36783485	HCT-116	colon:	n/a
18	chr14:36783435-36783485	AG09319	gingival:	n/a
19	chr14:36783435-36783485	HCPEpiC	choroid plexus:	n/a
20	chr14:36783435-36783485	SKMC	muscle:	n/a
21	chr14:36783435-36783485	HCM	heart:	n/a
22	chr14:36783435-36783485	ProgFib	skin:	n/a
23	chr14:36783435-36783485	NT2-D1	testis:	n/a
24	chr14:36783435-36783485	HEEpiC	esophagus:	n/a
25	chr14:36783435-36783485	GM12878	blood:	n/a
26	chr14:36783435-36783485	SK-N-SH	brain:	n/a
27	chr14:36783435-36783485	LNCaP	prostate:	n/a
28	chr14:36783435-36783485	AG04450	lung:	fetal
29	chr14:36783435-36783485	MCF10A-Er-Src	breast:	n/a
30	chr14:36783435-36783485	HepG2	liver:	n/a
31	chr14:36783435-36783485	SAEC	small airway:	n/a
32	chr14:36783435-36783485	Caco-2	colon:	n/a
33	chr14:36783435-36783485	HEK293	kidney:	embryo
34	chr14:36783435-36783485	HIPEpiC	eye:	n/a
35	chr14:36783435-36783485	PFSK-1	brain:	n/a
36	chr14:36783435-36783485	SK-N-SH_RA	brain:	n/a
37	chr14:36783435-36783485	HNPCEpiC	eye:	n/a
38	chr14:36783435-36783485	NHBE	bronchial:	n/a
39	chr14:36783435-36783485	HCF	heart:	n/a
40	chr14:36783435-36783485	NH-A	brain:	n/a
41	chr14:36783435-36783485	NB4	blood:	n/a
42	chr14:36783435-36783485	HPAEpiC	pulmonary alveolar:	n/a
43	chr14:36783435-36783485	K562	blood:	n/a
44	chr14:36783435-36783485	A549	lung:	n/a
45	chr14:36783435-36783485	HRPEpiC	eye:	n/a
46	chr14:36783435-36783485	HL-60	blood:	n/a
47	chr14:36783435-36783485	H1-hESC	embryonic stem cell:	embryo
48	chr14:36783435-36783485	GM12891	blood:	n/a
49	chr14:36783435-36783485	AG10803	skin:	n/a
50	chr14:36783435-36783485	GM12892	blood:	n/a

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:36783190..36784933-chr14:36788355..36791806,3	MCF-7	breast:
2	chr14:36539398..36539927-chr14:36782854..36783534,2	MCF-7	breast:
3	chr14:36778592..36784393-chr14:36785409..36790832,9	K562	blood:
4	chr14:36779773..36781769-chr14:36782151..36784795,2	K562	blood:

No data

Variant related genes	Relation type
MBIP	TF binding region
MBIP	CpG island
ENSG00000151332	Chromatin interaction
ENSG00000257585	Chromatin interaction

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs10133125	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10139030	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11558802	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11844502	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12890888	0.93[EUR][1000 genomes]
rs12897795	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1535722	0.83[EUR][1000 genomes]
rs2415332	0.93[EUR][1000 genomes]
rs2415334	0.86[ASN][1000 genomes]
rs2415335	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2415339	0.81[EUR][1000 genomes]
rs2553575	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2899849	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3168891	0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3762904	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3805352	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3805353	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3805354	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3805355	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3842844	0.98[EUR][1000 genomes]
rs3844012	0.84[EUR][1000 genomes]
rs3844013	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3850257	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3850258	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3850259	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3850260	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3850267	0.93[EUR][1000 genomes]
rs3850268	0.93[EUR][1000 genomes]
rs3861477	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3861481	0.93[EUR][1000 genomes]
rs3909608	0.93[EUR][1000 genomes]
rs3909615	0.84[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs4083518	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4127807	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4378535	0.91[EUR][1000 genomes]
rs4898561	0.93[EUR][1000 genomes]
rs4898563	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4898597	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4898598	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4900716	0.82[AFR][1000 genomes];0.93[EUR][1000 genomes]
rs4900717	0.93[EUR][1000 genomes]
rs4900732	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4900733	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4900790	0.93[EUR][1000 genomes]
rs4900833	0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4900924	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4901456	0.98[EUR][1000 genomes]
rs4901597	0.88[EUR][1000 genomes]
rs6571742	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7140630	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7141354	0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7142835	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7142956	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7146921	0.84[EUR][1000 genomes]
rs7147634	0.81[AFR][1000 genomes]
rs7154340	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7155498	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7157811	0.98[EUR][1000 genomes]
rs7159366	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8013261	0.89[EUR][1000 genomes]
rs9788479	0.83[AFR][1000 genomes];0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040256	chr14:36501452-37172046	Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
2	nsv542040	chr14:36501452-37172046	Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
3	nsv1047290	chr14:36564568-37445157	Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	43 gene(s)	inside rSNPs	diseases
4	nsv1037952	chr14:36670484-37294692	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
5	nsv542042	chr14:36670484-37294692	Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
6	esv3429093	chr14:36674701-36827119	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	esv3367425	chr14:36674721-36827089	Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv1042408	chr14:36693910-36810554	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv542043	chr14:36693910-36810554	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
10	nsv534143	chr14:36747497-36787893	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	esv2752577	chr14:36768276-36805529	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv1040487	chr14:36770813-36805621	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	nsv832771	chr14:36771007-36964041	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
14	nsv1054427	chr14:36780743-36819931	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:36761000-36785000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr14:36764400-36784000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr14:36765400-36788800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr14:36766200-36785400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr14:36766600-36788000	Weak transcription	Fetal Heart	heart
6	chr14:36767400-36789200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr14:36767400-36789200	Weak transcription	Spleen	Spleen
8	chr14:36772600-36788800	Weak transcription	Stomach Mucosa	stomach
9	chr14:36773400-36789200	Weak transcription	Esophagus	oesophagus
10	chr14:36778400-36785600	Weak transcription	HMEC	breast
11	chr14:36779200-36788600	Weak transcription	Fetal Intestine Small	intestine
12	chr14:36779400-36789000	Weak transcription	Colonic Mucosa	Colon
13	chr14:36780400-36788800	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr14:36780400-36789200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr14:36780400-36789200	Weak transcription	Small Intestine	intestine
16	chr14:36780600-36788400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr14:36780600-36788400	Weak transcription	Brain Cingulate Gyrus	brain
18	chr14:36780600-36788400	Weak transcription	Fetal Stomach	stomach
19	chr14:36780600-36788600	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr14:36780600-36788600	Weak transcription	Colon Smooth Muscle	Colon
21	chr14:36780600-36789200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr14:36780800-36783800	Weak transcription	Brain Germinal Matrix	brain
23	chr14:36780800-36784400	Weak transcription	Brain Substantia Nigra	brain
24	chr14:36780800-36786000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
25	chr14:36780800-36787400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr14:36780800-36788000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr14:36780800-36788000	Weak transcription	Stomach Smooth Muscle	stomach
28	chr14:36780800-36788400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr14:36780800-36788400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr14:36780800-36788600	Weak transcription	Thymus	Thymus
31	chr14:36781000-36784400	Weak transcription	NHEK	skin
32	chr14:36781000-36784600	Weak transcription	Brain Anterior Caudate	brain
33	chr14:36781000-36784800	Weak transcription	K562	blood
34	chr14:36781000-36785400	Weak transcription	Brain Hippocampus Middle	brain
35	chr14:36781000-36785600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr14:36781000-36786400	Weak transcription	Duodenum Mucosa	Duodenum
37	chr14:36781000-36786400	Weak transcription	A549	lung
38	chr14:36781000-36786600	Weak transcription	Osteobl	bone
39	chr14:36781000-36786800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr14:36781000-36787000	Weak transcription	Fetal Brain Female	brain
41	chr14:36781000-36787400	Weak transcription	Primary T cells from cord blood	blood
42	chr14:36781000-36787400	Weak transcription	HSMM	muscle
43	chr14:36781000-36787800	Weak transcription	NHDF-Ad	bronchial
44	chr14:36781000-36787800	Weak transcription	NHLF	lung
45	chr14:36781000-36788000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr14:36781000-36788000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr14:36781000-36788000	Weak transcription	Fetal Brain Male	brain
48	chr14:36781000-36788400	Weak transcription	Fetal Kidney	kidney
49	chr14:36781000-36788400	Weak transcription	Fetal Muscle Leg	muscle
50	chr14:36781000-36788400	Weak transcription	Skeletal Muscle Male	skeletal muscle

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