Variant report

Variant	rs536102733
Chromosome Location	chr5:179219218-179219219
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:179219189-179219559	GM12878	blood:	n/a	n/a
2	POLR2A	chr5:179219202-179219282	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr5:179219184-179219571	GM12878	blood:	n/a	n/a
4	POLR2A	chr5:179219139-179219459	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr5:179218996-179221960	HL-60	blood:	n/a	n/a
6	POLR2A	chr5:179219039-179219675	GM12892	blood:	n/a	n/a
7	POLR2A	chr5:179219029-179219603	SK-N-MC	brain:	n/a	n/a
8	CTCF	chr5:179219100-179219250	NB4	blood:	n/a	n/a
9	POLR2A	chr5:179219051-179219558	GM12891	blood:	n/a	n/a
10	POLR2A	chr5:179219097-179219290	HCT-116	colon:	n/a	n/a
11	POLR2A	chr5:179219206-179219500	GM12891	blood:	n/a	n/a
12	POLR2A	chr5:179219150-179219559	GM12891	blood:	n/a	n/a
13	POLR2A	chr5:179219021-179219570	GM12878	blood:	n/a	n/a
14	POLR2A	chr5:179219196-179219555	H1-neurons	neurons:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:179205387..179207447-chr5:179218747..179220491,2	K562	blood:
2	chr5:179213701..179215933-chr5:179218776..179220680,2	K562	blood:
3	chr5:179205957..179207615-chr5:179218348..179219920,2	MCF-7	breast:
4	chr5:179203387..179205916-chr5:179217553..179219501,2	MCF-7	breast:
5	chr5:179207715..179210288-chr5:179217795..179219761,2	MCF-7	breast:
6	chr5:179192680..179196164-chr5:179217971..179221244,3	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LTC4S-1	chr5:179218765-179220536	NONHSAT105621

No data

Variant related genes	Relation type
LTC4S	TF binding region
ENSG00000161021	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949554	chr5:178832325-179309513	Transcr. at gene 5' and 3' Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	312 gene(s)	inside rSNPs	diseases
2	nsv883270	chr5:178951106-179350387	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	312 gene(s)	inside rSNPs	diseases
3	nsv531997	chr5:179107599-179588082	Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	339 gene(s)	inside rSNPs	diseases
4	nsv469579	chr5:179184831-179360191	Genic enhancers Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	182 gene(s)	inside rSNPs	diseases
5	nsv883274	chr5:179186397-179310330	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
6	nsv518964	chr5:179193598-179227286	Strong transcription Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	151 gene(s)	inside rSNPs	diseases
7	nsv883275	chr5:179193598-179267783	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
8	nsv883276	chr5:179193598-179310330	Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
9	nsv883277	chr5:179193598-179350387	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	182 gene(s)	inside rSNPs	diseases
10	nsv823361	chr5:179213324-179251243	Genic enhancers Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	173 gene(s)	inside rSNPs	diseases
11	nsv600659	chr5:179214251-179225594	Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	147 gene(s)	inside rSNPs	diseases
12	nsv600660	chr5:179214251-179231248	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	149 gene(s)	inside rSNPs	diseases
13	nsv883278	chr5:179214818-179238794	Active TSS Genic enhancers Strong transcription Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	154 gene(s)	inside rSNPs	diseases
14	nsv883279	chr5:179214818-179248774	Enhancers Strong transcription Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	173 gene(s)	inside rSNPs	diseases
15	nsv870188	chr5:179218824-179235424	Strong transcription Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	154 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:179202000-179221800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr5:179203400-179221600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr5:179203600-179219600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr5:179203600-179220400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr5:179203600-179222000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr5:179204000-179221200	Weak transcription	Small Intestine	intestine
7	chr5:179205200-179220600	Weak transcription	Rectal Smooth Muscle	rectum
8	chr5:179205200-179221800	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr5:179206000-179220200	Weak transcription	Ovary	ovary
10	chr5:179207000-179220200	Weak transcription	GM12878-XiMat	blood
11	chr5:179207200-179220600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr5:179207400-179219400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr5:179207400-179221000	Weak transcription	Brain Substantia Nigra	brain
14	chr5:179207600-179219400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr5:179207600-179219400	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr5:179207600-179220000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr5:179207600-179220200	Weak transcription	Brain Cingulate Gyrus	brain
18	chr5:179207600-179220200	Weak transcription	Duodenum Mucosa	Duodenum
19	chr5:179207600-179220200	Weak transcription	Pancreas	Pancrea
20	chr5:179207600-179220600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr5:179207600-179220800	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr5:179207600-179221200	Weak transcription	Fetal Intestine Large	intestine
23	chr5:179207600-179222200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr5:179207600-179222600	Weak transcription	Aorta	Aorta
25	chr5:179207800-179220200	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr5:179207800-179220200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr5:179207800-179220400	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr5:179207800-179220400	Weak transcription	Brain Angular Gyrus	brain
29	chr5:179207800-179220400	Weak transcription	HSMM	muscle
30	chr5:179207800-179220600	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr5:179207800-179222200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr5:179208000-179219400	Weak transcription	Primary B cells from cord blood	blood
33	chr5:179208000-179220200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr5:179208000-179220200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr5:179208000-179220400	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr5:179208000-179220600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr5:179209000-179220400	Weak transcription	Brain Anterior Caudate	brain
38	chr5:179209000-179220800	Weak transcription	Dnd41	blood
39	chr5:179209200-179220000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr5:179209400-179222200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr5:179209600-179219600	Weak transcription	Stomach Smooth Muscle	stomach
42	chr5:179209600-179220400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr5:179209600-179221600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr5:179209800-179220200	Weak transcription	Primary T cells from cord blood	blood
45	chr5:179210200-179219400	Weak transcription	Brain Hippocampus Middle	brain
46	chr5:179215600-179220000	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr5:179215600-179221200	Weak transcription	Thymus	Thymus
48	chr5:179215600-179223200	Weak transcription	HSMMtube	muscle
49	chr5:179215800-179219400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr5:179218200-179220000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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