Variant report

Variant	rs189574842
Chromosome Location	chr5:179921082-179921083
allele	C/T
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	ELF1	chr5:179920925-179922244	GM12878	blood:	n/a	chr5:179921385-179921397 chr5:179921995-179922007 chr5:179921997-179922006 chr5:179921350-179921359 chr5:179921994-179922003 chr5:179922000-179922009
2	MAX	chr5:179920946-179922370	MCF-7	breast:	n/a	n/a
3	TAF1	chr5:179921036-179922192	HepG2	liver:	n/a	n/a
4	TEAD4	chr5:179920985-179921495	ECC-1	luminal epithelium:	n/a	n/a
5	IRF1	chr5:179921046-179921791	K562	blood:	n/a	chr5:179921245-179921259
6	EGR1	chr5:179921073-179921583	K562	blood:	n/a	chr5:179921241-179921254 chr5:179921241-179921254 chr5:179921246-179921256
7	POLR2A	chr5:179921074-179921676	HepG2	liver:	n/a	n/a
8	YY1	chr5:179920969-179921893	ECC-1	luminal epithelium:	n/a	chr5:179921067-179921077 chr5:179921391-179921410 chr5:179921246-179921255 chr5:179921390-179921410 chr5:179921389-179921398 chr5:179921393-179921403
9	FOXP2	chr5:179921046-179921434	PFSK-1	brain:	n/a	n/a
10	POLR2A	chr5:179921000-179922174	GM12892	blood:	n/a	n/a
11	TEAD4	chr5:179921022-179921465	A549	lung:	n/a	n/a
12	POLR2A	chr5:179920992-179922196	A549	lung:	n/a	n/a
13	CHD1	chr5:179921022-179922477	IMR90	lung:	n/a	n/a
14	YY1	chr5:179920963-179922144	GM12878	blood:	n/a	chr5:179921997-179922011 chr5:179922000-179922009 chr5:179921067-179921077 chr5:179921998-179922009 chr5:179921391-179921410 chr5:179921246-179921255 chr5:179921390-179921410 chr5:179921994-179922003 chr5:179921997-179922006 chr5:179921995-179922006 chr5:179921389-179921398 chr5:179921994-179922008 chr5:179921393-179921403
15	TAF1	chr5:179921023-179921678	Hela-S3	cervix:	n/a	n/a
16	SIN3AK20	chr5:179921076-179921599	HepG2	liver:	n/a	n/a
17	SP1	chr5:179920992-179921564	GM12878	blood:	n/a	chr5:179921320-179921341 chr5:179921245-179921257 chr5:179921246-179921255 chr5:179921247-179921256 chr5:179921245-179921257 chr5:179921246-179921256 chr5:179921247-179921256 chr5:179921245-179921256 chr5:179921242-179921256 chr5:179921246-179921256
18	TCF12	chr5:179921079-179921407	GM12878	blood:	n/a	n/a
19	GTF2F1	chr5:179921040-179921415	H1-hESC	embryonic stem cell:	n/a	n/a
20	POLR2A	chr5:179921004-179922171	GM19193	blood:	n/a	n/a
21	POLR2A	chr5:179920983-179921621	GM12892	blood:	n/a	n/a
22	EP300	chr5:179921033-179921560	H1-hESC	embryonic stem cell:	n/a	chr5:179921385-179921394 chr5:179921350-179921359 chr5:179921387-179921396
23	ZNF143	chr5:179921051-179921621	GM12878	blood:	n/a	chr5:179921350-179921360
24	POLR2A	chr5:179920940-179921603	HepG2	liver:	n/a	n/a
25	STAT5A	chr5:179920977-179921455	K562	blood:	n/a	n/a
26	ZBTB33	chr5:179921040-179921423	HCT-116	colon:	n/a	n/a
27	CHD1	chr5:179920964-179921858	GM12878	blood:	n/a	n/a
28	POLR2A	chr5:179920994-179922070	GM18526	blood:	n/a	n/a
29	POLR2A	chr5:179920968-179921644	HUVEC	blood vessel:	n/a	n/a
30	NR2F2	chr5:179921030-179921356	K562	blood:	n/a	n/a
31	SP1	chr5:179921031-179921410	K562	blood:	n/a	chr5:179921320-179921341 chr5:179921245-179921257 chr5:179921246-179921255 chr5:179921247-179921256 chr5:179921245-179921257 chr5:179921246-179921256 chr5:179921247-179921256 chr5:179921245-179921256 chr5:179921242-179921256 chr5:179921246-179921256
32	FOSL2	chr5:179921007-179921429	A549	lung:	n/a	n/a
33	MAX	chr5:179920990-179921796	HepG2	liver:	n/a	n/a
34	POLR2A	chr5:179920941-179922286	K562	blood:	n/a	n/a
35	POLR2A	chr5:179920928-179921934	MCF-7	breast:	n/a	n/a
36	JUND	chr5:179921022-179921481	HepG2	liver:	n/a	n/a
37	MAX	chr5:179920950-179921687	HCT-116	colon:	n/a	n/a
38	POLR2A	chr5:179921028-179922400	H1-hESC	embryonic stem cell:	n/a	n/a
39	TAF1	chr5:179921018-179921521	PFSK-1	brain:	n/a	n/a
40	SIX5	chr5:179921050-179921461	GM12878	blood:	n/a	n/a
41	MAX	chr5:179920986-179921787	ECC-1	luminal epithelium:	n/a	n/a
42	SP1	chr5:179920907-179921840	HCT-116	colon:	n/a	chr5:179921320-179921341 chr5:179921245-179921257 chr5:179921246-179921255 chr5:179921247-179921256 chr5:179921245-179921257 chr5:179921246-179921256 chr5:179921247-179921256 chr5:179921245-179921256 chr5:179921242-179921256 chr5:179921246-179921256
43	MAX	chr5:179921021-179921459	A549	lung:	n/a	n/a
44	TAF1	chr5:179920986-179921648	MCF-7	breast:	n/a	n/a
45	KAP1	chr5:179921072-179921338	HEK293	kidney:	n/a	n/a
46	POLR2A	chr5:179920951-179921829	Raji	blood:	n/a	n/a
47	MYBL2	chr5:179920928-179921477	HepG2	liver:	n/a	n/a
48	HA-E2F1	chr5:179921013-179922280	Hela-S3	cervix:	n/a	chr5:179921995-179922005 chr5:179921246-179921255 chr5:179922003-179922012 chr5:179922199-179922206 chr5:179922199-179922206 chr5:179921250-179921260 chr5:179922199-179922206 chr5:179921998-179922008
49	SIN3AK20	chr5:179920903-179922557	MCF-7	breast:	n/a	n/a
50	POLR2A	chr5:179920998-179921909	GM12892	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:179920260..179922999-chr5:180038598..180040134,2	MCF-7	breast:
2	chr5:179720972..179723069-chr5:179918796..179921248,2	MCF-7	breast:
3	chr5:179920138..179923580-chr5:179954774..179958751,3	MCF-7	breast:
4	chr5:179778332..179781251-chr5:179920436..179923318,3	MCF-7	breast:
5	chr5:179919075..179921338-chr5:180210769..180213087,2	MCF-7	breast:
6	chr5:179718755..179721306-chr5:179919977..179922949,4	MCF-7	breast:

Variant related genes	Relation type
CNOT6	TF binding region
ENSG00000050748	Chromatin interaction
ENSG00000131459	Chromatin interaction
ENSG00000248367	Chromatin interaction
ENSG00000113300	Chromatin interaction
ENSG00000037280	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023914	chr5:179649883-180040672	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv537983	chr5:179649883-180040672	Strong transcription ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv1030697	chr5:179710469-180686563	ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	184 gene(s)	inside rSNPs	diseases
4	nsv1026417	chr5:179721376-180291360	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
5	nsv1031836	chr5:179742033-180676122	Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
6	nsv537984	chr5:179742033-180676122	Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	177 gene(s)	inside rSNPs	diseases
7	nsv949199	chr5:179743553-180696889	Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	182 gene(s)	inside rSNPs	diseases
8	nsv1023537	chr5:179791679-179982822	Transcr. at gene 5' and 3' Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
9	nsv537985	chr5:179791679-179982822	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats 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	18 gene(s)	inside rSNPs	diseases
10	nsv1019519	chr5:179866730-179959408	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
11	nsv830564	chr5:179867394-180010096	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
12	esv3356496	chr5:179920371-179922919	Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179918800-179921600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr5:179919800-179921400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr5:179920000-179921200	Enhancers	Fetal Brain Male	brain
4	chr5:179920200-179922200	Active TSS	Rectal Mucosa Donor 29	rectum
5	chr5:179920400-179921200	Enhancers	Fetal Heart	heart
6	chr5:179920400-179921600	Active TSS	Primary T regulatory cells fromperipheralblood	blood
7	chr5:179920400-179922200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr5:179920400-179922200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr5:179920400-179922200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr5:179920400-179922200	Active TSS	Brain Substantia Nigra	brain
11	chr5:179920400-179922200	Active TSS	Duodenum Mucosa	Duodenum
12	chr5:179920400-179922200	Active TSS	Skeletal Muscle Male	skeletal muscle
13	chr5:179920400-179922200	Active TSS	Stomach Smooth Muscle	stomach
14	chr5:179920400-179922400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr5:179920400-179922400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
16	chr5:179920400-179922800	Active TSS	HUES6 Cell Line	embryonic stem cell
17	chr5:179920400-179923000	Active TSS	iPS-15b Cell Line	embryonic stem cell
18	chr5:179920400-179923200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr5:179920400-179923400	Active TSS	GM12878-XiMat	blood
20	chr5:179920600-179921200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
21	chr5:179920600-179921600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr5:179920600-179921800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr5:179920600-179922000	Active TSS	Colonic Mucosa	Colon
24	chr5:179920600-179922200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr5:179920600-179922200	Active TSS	Primary T cells from cord blood	blood
26	chr5:179920600-179922200	Active TSS	Primary hematopoietic stem cells short term culture	blood
27	chr5:179920600-179922200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr5:179920600-179922200	Active TSS	Brain Cingulate Gyrus	brain
29	chr5:179920600-179922200	Active TSS	Fetal Brain Female	brain
30	chr5:179920600-179922200	Active TSS	Rectal Mucosa Donor 31	rectum
31	chr5:179920600-179922200	Active TSS	Monocytes-CD14+_RO01746	blood
32	chr5:179920600-179922400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr5:179920600-179922400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr5:179920600-179922400	Active TSS	Breast Myoepithelial Primary Cells	Breast
35	chr5:179920600-179922400	Active TSS	Brain Anterior Caudate	brain
36	chr5:179920600-179922400	Active TSS	Colon Smooth Muscle	Colon
37	chr5:179920600-179922400	Active TSS	Duodenum Smooth Muscle	Duodenum
38	chr5:179920600-179922400	Active TSS	Fetal Kidney	kidney
39	chr5:179920600-179922400	Active TSS	Placenta	Placenta
40	chr5:179920600-179922400	Active TSS	Rectal Smooth Muscle	rectum
41	chr5:179920600-179922400	Active TSS	HSMMtube	muscle
42	chr5:179920600-179922400	Active TSS	NH-A	brain
43	chr5:179920600-179922600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr5:179920600-179922800	Active TSS	Right Atrium	heart
45	chr5:179920600-179923000	Active TSS	ES-I3 Cell Line	embryonic stem cell
46	chr5:179920600-179923200	Active TSS	H9 Cell Line	embryonic stem cell
47	chr5:179920800-179921200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
48	chr5:179920800-179921200	Flanking Active TSS	HMEC	breast
49	chr5:179920800-179922000	Active TSS	HepG2	liver
50	chr5:179920800-179922200	Active TSS	Primary monocytes fromperipheralblood	blood

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