Variant report

Variant	rs11072703
Chromosome Location	chr15:78236929-78236930
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	NFIC	chr15:78236641-78237276	GM12878	blood:	n/a	n/a
2	MAX	chr15:78236820-78237087	K562	blood:	n/a	chr15:78236998-78237008
3	CTCF	chr15:78236860-78237010	SK-N-SH_RA	brain:	n/a	chr15:78236887-78236896
4	POLR2A	chr15:78236781-78237152	SK-N-SH	brain:	n/a	n/a
5	USF1	chr15:78236800-78237036	A549	lung:	n/a	chr15:78236967-78236978
6	PAX5	chr15:78236633-78237289	GM12878	blood:	n/a	n/a
7	POLR2A	chr15:78236643-78237049	MCF-7	breast:	n/a	n/a
8	FOSL2	chr15:78236717-78237190	HepG2	liver:	n/a	n/a
9	MAX	chr15:78236824-78236995	A549	lung:	n/a	n/a
10	POLR2A	chr15:78236738-78237195	GM12892	blood:	n/a	n/a
11	ZNF263	chr15:78236779-78237148	HEK293-T-REx	kidney:	n/a	n/a
12	POLR2A	chr15:78236761-78237181	PBDE	blood:	n/a	n/a
13	E2F6	chr15:78236759-78237043	K562	blood:	n/a	chr15:78237002-78237012
14	SP1	chr15:78236861-78237145	GM12878	blood:	n/a	chr15:78236998-78237007 chr15:78236997-78237009 chr15:78236997-78237009 chr15:78236998-78237008 chr15:78236994-78237008 chr15:78236999-78237008
15	JUND	chr15:78236712-78237139	K562	blood:	n/a	n/a
16	E2F6	chr15:78236693-78237156	K562	blood:	n/a	chr15:78237002-78237012
17	POLR2A	chr15:78236726-78237236	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr15:78236745-78237281	GM12892	blood:	n/a	n/a
19	POLR2A	chr15:78236738-78237152	GM12878	blood:	n/a	n/a
20	POLR2A	chr15:78236689-78237141	GM12878	blood:	n/a	n/a
21	SP1	chr15:78236880-78237068	HepG2	liver:	n/a	chr15:78236998-78237007 chr15:78236997-78237009 chr15:78236997-78237009 chr15:78236998-78237008 chr15:78236994-78237008 chr15:78236999-78237008
22	TCF12	chr15:78236773-78237193	GM12878	blood:	n/a	n/a
23	HDAC2	chr15:78236654-78237080	HepG2	liver:	n/a	n/a
24	ELF1	chr15:78236798-78237117	MCF-7	breast:	n/a	n/a
25	SIN3A	chr15:78236570-78236994	H1-hESC	embryonic stem cell:	n/a	n/a
26	REST	chr15:78236772-78237101	HepG2	liver:	n/a	chr15:78237022-78237032 chr15:78237076-78237089
27	ZBTB33	chr15:78236790-78236994	HCT-116	colon:	n/a	n/a
28	BCL11A	chr15:78236927-78237145	GM12878	blood:	n/a	n/a
29	CTCF	chr15:78236887-78236958	GM10248	blood:	n/a	chr15:78236887-78236896
30	GABPA	chr15:78236907-78237052	Hela-S3	cervix:	n/a	n/a
31	CTCF	chr15:78236860-78237010	AG04449	skin:	n/a	chr15:78236887-78236896
32	CTCF	chr15:78236924-78237054	Spleen_OC	spleen:	n/a	chr15:78237037-78237050
33	TAF1	chr15:78236679-78237156	HepG2	liver:	n/a	n/a
34	POLR2A	chr15:78236711-78237260	GM12891	blood:	n/a	n/a
35	MAZ	chr15:78236645-78237172	K562	blood:	n/a	chr15:78236998-78237008 chr15:78236656-78236666
36	TAF1	chr15:78236842-78237174	Hela-S3	cervix:	n/a	n/a
37	POLR2A	chr15:78236730-78237175	GM19099	blood:	n/a	n/a
38	POLR2A	chr15:78236568-78237133	HepG2	liver:	n/a	n/a
39	CTCF	chr15:78236820-78236970	HBMEC	blood vessel:	n/a	chr15:78236887-78236896
40	JUND	chr15:78236801-78237085	HepG2	liver:	n/a	n/a
41	POLR2A	chr15:78236717-78237242	Hela-S3	cervix:	n/a	n/a
42	POLR2A	chr15:78236635-78237322	PANC-1	pancreas:	n/a	n/a
43	MAX	chr15:78236810-78237043	A549	lung:	n/a	chr15:78236998-78237008
44	FOXA1	chr15:78236615-78237108	HepG2	liver:	n/a	n/a
45	CTCF	chr15:78236820-78236970	HEK293	kidney:	n/a	chr15:78236887-78236896
46	POLR2A	chr15:78236826-78237225	Hela-S3	cervix:	n/a	n/a
47	POLR2A	chr15:78236714-78237256	U87	brain:	n/a	n/a
48	MAX	chr15:78236774-78236987	HepG2	liver:	n/a	n/a
49	USF1	chr15:78236745-78237155	GM12878	blood:	n/a	chr15:78236967-78236978
50	PAX5	chr15:78236855-78237096	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr15:78232364..78235120-chr15:78235300..78238762,3	K562	blood:
2	chr15:78236783..78237478-chrX:151999319..151999901,2	NB4	blood:

Variant related genes	Relation type
ENSG00000214646	TF binding region
ENSG00000147383	Chromatin interaction
ENSG00000147400	Chromatin interaction
ENSG00000214646	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12593218	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs12595210	0.81[AMR][1000 genomes]
rs4329889	0.85[AMR][1000 genomes]
rs4577048	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs4886549	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes]
rs8027530	0.94[AMR][1000 genomes]
rs8031828	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1806097	chr15:77817889-78301377	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv529491	chr15:77932659-78751516	Genic enhancers Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
3	esv1833316	chr15:78081307-78328108	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
4	nsv904426	chr15:78090630-78264164	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv904427	chr15:78129964-78251431	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
6	nsv976954	chr15:78153346-78255825	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
7	nsv904429	chr15:78160362-78251431	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:78236200-78237000	Active TSS	Monocytes-CD14+_RO01746	blood
2	chr15:78236200-78237200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr15:78236200-78237200	Active TSS	Liver	Liver
4	chr15:78236200-78237400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr15:78236200-78237400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr15:78236200-78237400	Active TSS	Brain Angular Gyrus	brain
7	chr15:78236200-78237400	Active TSS	Brain Cingulate Gyrus	brain
8	chr15:78236200-78237400	Active TSS	Duodenum Smooth Muscle	Duodenum
9	chr15:78236200-78237400	Active TSS	Rectal Smooth Muscle	rectum
10	chr15:78236200-78237400	Active TSS	Skeletal Muscle Female	skeletal muscle
11	chr15:78236200-78237400	Active TSS	NHDF-Ad	bronchial
12	chr15:78236200-78237600	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr15:78236200-78237600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr15:78236200-78237600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr15:78236200-78237800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr15:78236400-78237000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr15:78236400-78237000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr15:78236400-78237000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr15:78236400-78237000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr15:78236400-78237000	Enhancers	Fetal Brain Male	brain
21	chr15:78236400-78237000	Active TSS	NHEK	skin
22	chr15:78236400-78237200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr15:78236400-78237200	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
24	chr15:78236400-78237200	Active TSS	Brain Anterior Caudate	brain
25	chr15:78236400-78237200	Active TSS	Brain Inferior Temporal Lobe	brain
26	chr15:78236400-78237200	Active TSS	Colonic Mucosa	Colon
27	chr15:78236400-78237200	Active TSS	Colon Smooth Muscle	Colon
28	chr15:78236400-78237200	Active TSS	Pancreas	Pancrea
29	chr15:78236400-78237200	Active TSS	Rectal Mucosa Donor 29	rectum
30	chr15:78236400-78237200	Active TSS	HSMMtube	muscle
31	chr15:78236400-78237200	Active TSS	Osteobl	bone
32	chr15:78236400-78237400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr15:78236400-78237400	Flanking Active TSS	Primary B cells from peripheral blood	blood
34	chr15:78236400-78237400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
35	chr15:78236400-78237400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr15:78236400-78237400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr15:78236400-78237400	Active TSS	Brain Germinal Matrix	brain
38	chr15:78236400-78237400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
39	chr15:78236400-78237400	Active TSS	Brain Substantia Nigra	brain
40	chr15:78236400-78237400	Active TSS	Fetal Brain Female	brain
41	chr15:78236400-78237400	Active TSS	Fetal Kidney	kidney
42	chr15:78236400-78237400	Active TSS	Ovary	ovary
43	chr15:78236400-78237400	Active TSS	Psoas Muscle	Psoas
44	chr15:78236400-78237400	Active TSS	Rectal Mucosa Donor 31	rectum
45	chr15:78236400-78237400	Active TSS	Right Ventricle	heart
46	chr15:78236400-78237400	Active TSS	Skeletal Muscle Male	skeletal muscle
47	chr15:78236400-78237600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
48	chr15:78236400-78237600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr15:78236400-78237600	Active TSS	Brain Hippocampus Middle	brain
50	chr15:78236400-78237600	Active TSS	Duodenum Mucosa	Duodenum

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