Variant report

Variant	rs11491450
Chromosome Location	chr5:177018801-177018802
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	TCF12	chr5:177018771-177019678	ECC-1	luminal epithelium:	n/a	n/a
2	ZEB1	chr5:177018783-177019590	HepG2	liver:	n/a	n/a
3	TBP	chr5:177018732-177019932	K562	blood:	n/a	n/a
4	MAFK	chr5:177018685-177019652	Hela-S3	cervix:	n/a	n/a
5	RUNX3	chr5:177018755-177019587	GM12878	blood:	n/a	n/a
6	ZNF143	chr5:177018779-177019727	GM12878	blood:	n/a	chr5:177019134-177019152
7	NRF1	chr5:177018699-177019636	SK-N-SH	brain:	n/a	chr5:177019186-177019200 chr5:177019189-177019200
8	RCOR1	chr5:177018638-177020022	K562	blood:	n/a	n/a
9	TBP	chr5:177018795-177019599	GM12878	blood:	n/a	n/a
10	TEAD4	chr5:177018768-177019355	K562	blood:	n/a	n/a
11	HCFC1	chr5:177018457-177020158	Hela-S3	cervix:	n/a	n/a
12	JUND	chr5:177018798-177019713	H1-hESC	embryonic stem cell:	n/a	n/a
13	MAX	chr5:177018787-177019922	MCF-7	breast:	n/a	chr5:177019689-177019699
14	CHD2	chr5:177018634-177019591	GM12878	blood:	n/a	n/a
15	GABPA	chr5:177018800-177019448	MCF-7	breast:	n/a	chr5:177019186-177019200
16	POLR2A	chr5:177018783-177020003	GM12891	blood:	n/a	n/a
17	ELF1	chr5:177018746-177019653	MCF-7	breast:	n/a	chr5:177019156-177019168 chr5:177019155-177019164
18	RCOR1	chr5:177018604-177019958	GM12878	blood:	n/a	n/a
19	PML	chr5:177018749-177019540	K562	blood:	n/a	n/a
20	HDAC2	chr5:177018778-177019879	MCF-7	breast:	n/a	n/a
21	CREB1	chr5:177018751-177019664	HepG2	liver:	n/a	n/a
22	ZNF143	chr5:177018426-177019895	K562	blood:	n/a	chr5:177019134-177019152
23	ZNF384	chr5:177018790-177019422	K562	blood:	n/a	n/a
24	MTA3	chr5:177018764-177019838	GM12878	blood:	n/a	n/a
25	IRF1	chr5:177018626-177019432	K562	blood:	n/a	n/a
26	MAX	chr5:177018586-177019497	A549	lung:	n/a	n/a
27	RELA	chr5:177018670-177020016	GM10847	blood:	n/a	n/a
28	NRF1	chr5:177018792-177019308	HepG2	liver:	n/a	chr5:177019186-177019200 chr5:177019189-177019200
29	RFX5	chr5:177018786-177019459	K562	blood:	n/a	n/a
30	MXI1	chr5:177018324-177020217	SK-N-SH	brain:	n/a	n/a
31	PML	chr5:177018746-177019877	GM12878	blood:	n/a	n/a
32	SIN3A	chr5:177018707-177019987	GM12878	blood:	n/a	n/a
33	KAP1	chr5:177018476-177019385	U2OS	brain:	n/a	n/a
34	RCOR1	chr5:177018550-177019400	K562	blood:	n/a	n/a
35	RCOR1	chr5:177018640-177019401	Hela-S3	cervix:	n/a	n/a
36	YY1	chr5:177018751-177019901	SK-N-SH	brain:	n/a	chr5:177019205-177019225 chr5:177019155-177019164 chr5:177019177-177019191 chr5:177019192-177019206 chr5:177019190-177019201
37	HA-E2F1	chr5:177018703-177019942	MCF-7	breast:	n/a	chr5:177019159-177019169 chr5:177019156-177019166
38	GTF2F1	chr5:177018771-177019338	H1-hESC	embryonic stem cell:	n/a	n/a
39	E2F4	chr5:177018352-177019838	MCF10A-Er-Src	breast:	n/a	chr5:177019159-177019169 chr5:177019156-177019166
40	MYC	chr5:177018635-177019857	K562	blood:	n/a	chr5:177019689-177019699
41	SIN3AK20	chr5:177018512-177020045	MCF-7	breast:	n/a	n/a
42	GTF2F1	chr5:177018678-177019810	Hela-S3	cervix:	n/a	n/a
43	REST	chr5:177018757-177019975	H1-neurons	neurons:	n/a	n/a
44	SIX5	chr5:177018725-177019462	A549	lung:	n/a	n/a
45	BRCA1	chr5:177018577-177019316	Hela-S3	cervix:	n/a	n/a
46	MAX	chr5:177018794-177019787	HepG2	liver:	n/a	chr5:177019689-177019699
47	JUND	chr5:177018691-177019839	K562	blood:	n/a	n/a
48	EP300	chr5:177018624-177019929	K562	blood:	n/a	chr5:177019732-177019741 chr5:177019157-177019166 chr5:177019181-177019197
49	RELA	chr5:177018581-177019685	GM19099	blood:	n/a	n/a
50	TBL1XR1	chr5:177018572-177019393	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:176805970..176807499-chr5:177018005..177019768,2	K562	blood:
2	chr5:176978290..176981747-chr5:177017313..177020640,7	MCF-7	breast:
3	chr5:176943414..176949809-chr5:177018256..177021226,8	MCF-7	breast:
4	chr5:176946312..176949197-chr5:177018379..177020484,2	K562	blood:
5	chr5:176959784..176964247-chr5:177018558..177022874,5	MCF-7	breast:
6	chr5:176923602..176926182-chr5:177017999..177019710,2	K562	blood:
7	chr5:176939485..176941829-chr5:177017923..177020658,4	MCF-7	breast:
8	chr5:176980076..176982423-chr5:177017925..177021146,3	K562	blood:
9	chr5:176922040..176925610-chr5:177017064..177019499,4	K562	blood:
10	chr5:177017384..177019488-chr5:177631001..177633000,2	MCF-7	breast:
11	chr5:177018435..177020960-chr5:177539226..177540753,2	MCF-7	breast:

Variant related genes	Relation type
TMED9	TF binding region
ENSG00000131183	Chromatin interaction
ENSG00000197451	Chromatin interaction
ENSG00000145911	Chromatin interaction
ENSG00000196923	Chromatin interaction
ENSG00000272459	Chromatin interaction
ENSG00000146067	Chromatin interaction
ENSG00000183258	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs10077732	1.00[MEX][hapmap];0.85[MKK][hapmap];0.85[YRI][hapmap]
rs73804382	1.00[AMR][1000 genomes]

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	nsv916108	chr5:176688459-177078723	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
2	nsv1024444	chr5:176751921-177427715	Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	142 gene(s)	inside rSNPs	diseases
3	esv2752795	chr5:176898619-177488281	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
4	nsv1022630	chr5:176975746-177028082	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	nsv537966	chr5:176975746-177028082	Genic enhancers Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
6	nsv883181	chr5:176978496-177034786	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
7	nsv883182	chr5:176980995-177322056	Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
8	esv3348457	chr5:176995395-177020808	Active TSS Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:177018600-177019000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr5:177018600-177019000	Flanking Active TSS	Liver	Liver
3	chr5:177018600-177019000	Flanking Active TSS	Colon Smooth Muscle	Colon
4	chr5:177018600-177019000	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr5:177018600-177019000	Enhancers	Spleen	Spleen
6	chr5:177018600-177019000	Flanking Active TSS	GM12878-XiMat	blood
7	chr5:177018600-177019000	Flanking Active TSS	K562	blood
8	chr5:177018600-177019000	Flanking Active TSS	NHDF-Ad	bronchial
9	chr5:177018600-177019000	Flanking Active TSS	NHEK	skin
10	chr5:177018600-177019600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr5:177018600-177019600	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
12	chr5:177018600-177019600	Active TSS	Brain Angular Gyrus	brain
13	chr5:177018600-177019600	Active TSS	Monocytes-CD14+_RO01746	blood
14	chr5:177018600-177019800	Active TSS	Primary T helper cells PMA-I stimulated	--
15	chr5:177018600-177019800	Active TSS	Brain Anterior Caudate	brain
16	chr5:177018600-177019800	Active TSS	Brain Hippocampus Middle	brain
17	chr5:177018600-177019800	Active TSS	Brain Inferior Temporal Lobe	brain
18	chr5:177018600-177019800	Active TSS	Brain Substantia Nigra	brain
19	chr5:177018600-177019800	Active TSS	Duodenum Mucosa	Duodenum
20	chr5:177018600-177019800	Active TSS	Fetal Kidney	kidney
21	chr5:177018600-177019800	Active TSS	Stomach Smooth Muscle	stomach
22	chr5:177018600-177020000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr5:177018600-177020000	Active TSS	Fetal Lung	lung
24	chr5:177018600-177020200	Active TSS	HUES48 Cell Line	embryonic stem cell
25	chr5:177018600-177020200	Active TSS	iPS-15b Cell Line	embryonic stem cell
26	chr5:177018600-177020200	Active TSS	iPS-18 Cell Line	embryonic stem cell
27	chr5:177018600-177020200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr5:177018600-177020200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
29	chr5:177018600-177020200	Active TSS	Skeletal Muscle Female	skeletal muscle
30	chr5:177018600-177020400	Active TSS	HUES64 Cell Line	embryonic stem cell
31	chr5:177018600-177020400	Active TSS	Rectal Smooth Muscle	rectum
32	chr5:177018600-177020400	Active TSS	HSMMtube	muscle
33	chr5:177018600-177020600	Active TSS	iPS-20b Cell Line	embryonic stem cell
34	chr5:177018800-177019000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr5:177018800-177019000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr5:177018800-177019000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
37	chr5:177018800-177019000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
38	chr5:177018800-177019000	Flanking Active TSS	Primary B cells from cord blood	blood
39	chr5:177018800-177019000	Flanking Active TSS	Primary B cells from peripheral blood	blood
40	chr5:177018800-177019000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
41	chr5:177018800-177019000	Flanking Active TSS	Primary hematopoietic stem cells	blood
42	chr5:177018800-177019000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
43	chr5:177018800-177019000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
44	chr5:177018800-177019000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
45	chr5:177018800-177019000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
46	chr5:177018800-177019000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
47	chr5:177018800-177019000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
48	chr5:177018800-177019000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
49	chr5:177018800-177019000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
50	chr5:177018800-177019000	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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