Variant report

Variant	rs555976188
Chromosome Location	chr19:18543940-18543941
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	YY1	chr19:18543495-18544431	GM12878	blood:	n/a	chr19:18544283-18544294 chr19:18544285-18544294
2	POLR2A	chr19:18543524-18545258	GM12878	blood:	n/a	n/a
3	RUNX3	chr19:18543104-18544416	GM12878	blood:	n/a	n/a
4	BCL3	chr19:18543616-18544387	K562	blood:	n/a	chr19:18543740-18543749 chr19:18543741-18543750 chr19:18544283-18544292 chr19:18544281-18544294 chr19:18544100-18544113
5	E2F6	chr19:18543895-18544171	K562	blood:	n/a	chr19:18544038-18544049 chr19:18544039-18544051
6	POLR2A	chr19:18543831-18544414	GM10847	blood:	n/a	n/a
7	MAX	chr19:18543515-18545245	K562	blood:	n/a	chr19:18544474-18544484 chr19:18545007-18545017
8	TAF1	chr19:18543783-18544359	K562	blood:	n/a	n/a
9	POLR2A	chr19:18543590-18544386	GM12891	blood:	n/a	n/a
10	POU2F2	chr19:18543546-18544287	GM12878	blood:	n/a	n/a
11	EGR1	chr19:18543813-18544359	GM12878	blood:	n/a	chr19:18544024-18544035 chr19:18544300-18544310 chr19:18544044-18544053 chr19:18544043-18544056 chr19:18544025-18544035 chr19:18544040-18544054 chr19:18544283-18544296 chr19:18544044-18544054
12	POLR2A	chr19:18538551-18551124	K562	blood:	n/a	n/a
13	BCLAF1	chr19:18543587-18544362	GM12878	blood:	n/a	chr19:18543740-18543749 chr19:18543741-18543750 chr19:18544283-18544292 chr19:18544281-18544294 chr19:18544100-18544113
14	MYC	chr19:18543825-18544224	GM12878	blood:	n/a	n/a
15	SIN3AK20	chr19:18543909-18544440	PANC-1	pancreas:	n/a	n/a
16	STAT1	chr19:18543864-18544255	GM12878	blood:	n/a	n/a
17	ELK1	chr19:18543901-18544054	GM12878	blood:	n/a	n/a
18	TAF1	chr19:18543752-18544314	GM12878	blood:	n/a	n/a
19	POLR2A	chr19:18543837-18544433	H1-hESC	embryonic stem cell:	n/a	n/a
20	ELF1	chr19:18543656-18544411	GM12878	blood:	n/a	n/a
21	POLR2A	chr19:18543470-18548238	PANC-1	pancreas:	n/a	n/a
22	MXI1	chr19:18543789-18544251	GM12878	blood:	n/a	n/a
23	MYC	chr19:18543811-18544278	K562	blood:	n/a	n/a
24	TCF3	chr19:18543672-18544433	GM12878	blood:	n/a	n/a
25	HEY1	chr19:18543533-18544433	K562	blood:	n/a	chr19:18544291-18544306 chr19:18544272-18544287 chr19:18544281-18544296 chr19:18544138-18544153
26	TBP	chr19:18543851-18544051	GM12878	blood:	n/a	n/a
27	MAX	chr19:18543799-18544393	K562	blood:	n/a	n/a
28	CHD2	chr19:18543582-18545221	K562	blood:	n/a	chr19:18544477-18544487 chr19:18544220-18544230 chr19:18544038-18544048 chr19:18544482-18544492
29	POLR2A	chr19:18534926-18553479	K562	blood:	n/a	n/a
30	YY1	chr19:18543668-18544465	GM12878	blood:	n/a	chr19:18544283-18544294 chr19:18544285-18544294
31	BCL3	chr19:18543538-18544439	GM12878	blood:	n/a	chr19:18543740-18543749 chr19:18543741-18543750 chr19:18544283-18544292 chr19:18544281-18544294 chr19:18544100-18544113
32	E2F6	chr19:18543872-18544290	H1-hESC	embryonic stem cell:	n/a	chr19:18544038-18544049 chr19:18544039-18544051
33	BHLHE40	chr19:18543877-18544227	K562	blood:	n/a	chr19:18544163-18544179
34	POLR2A	chr19:18543821-18544434	U87	brain:	n/a	n/a
35	FOXM1	chr19:18543887-18544425	GM12878	blood:	n/a	n/a
36	TAF1	chr19:18543838-18544134	GM12891	blood:	n/a	n/a
37	POLR2A	chr19:18543447-18547067	K562	blood:	n/a	n/a
38	POLR2A	chr19:18543826-18546149	K562	blood:	n/a	n/a
39	NFIC	chr19:18543743-18544388	GM12878	blood:	n/a	chr19:18544343-18544371
40	POLR2A	chr19:18543681-18544314	HepG2	liver:	n/a	n/a
41	STAT5A	chr19:18542897-18544436	GM12878	blood:	n/a	n/a
42	YY1	chr19:18543806-18544244	K562	blood:	n/a	n/a
43	ATF2	chr19:18543709-18544259	GM12878	blood:	n/a	n/a
44	YY1	chr19:18543742-18544177	GM12892	blood:	n/a	n/a
45	YY1	chr19:18543766-18544316	GM12891	blood:	n/a	chr19:18544283-18544294 chr19:18544285-18544294
46	YY1	chr19:18543509-18544429	GM12892	blood:	n/a	chr19:18544283-18544294 chr19:18544285-18544294
47	POLR2A	chr19:18543626-18552057	K562	blood:	n/a	n/a
48	POLR2A	chr19:18543844-18544432	PFSK-1	brain:	n/a	n/a
49	HDAC2	chr19:18543813-18544447	K562	blood:	n/a	n/a
50	EGR1	chr19:18543769-18544286	H1-hESC	embryonic stem cell:	n/a	chr19:18544024-18544035 chr19:18544044-18544053 chr19:18544043-18544056 chr19:18544025-18544035 chr19:18544040-18544054 chr19:18544044-18544054

No.	Distal block	Cell Line	Cell type
1	chr18:12067124..12068647-chr19:18543710..18545740,2	K562	blood:
2	chr19:18527431..18533703-chr19:18536573..18544512,11	MCF-7	breast:
3	chr19:18384108..18395354-chr19:18534355..18544725,18	K562	blood:
4	chr19:18495466..18501669-chr19:18543275..18549976,8	K562	blood:
5	chr18:12067124..12068644-chr19:18543710..18545856,2	K562	blood:
6	chr19:18385251..18388025-chr19:18541664..18544540,2	K562	blood:
7	chr19:18484864..18486946-chr19:18543605..18545790,2	K562	blood:
8	chr19:18507454..18509649-chr19:18542288..18544063,2	K562	blood:

Variant related genes	Relation type
SSBP4	TF binding region
ENSG00000130511	Chromatin interaction
ENSG00000130518	Chromatin interaction
ENSG00000130513	Chromatin interaction
ENSG00000267533	Chromatin interaction
ENSG00000267959	Chromatin interaction
ENSG00000175489	Chromatin interaction
ENSG00000264175	Chromatin interaction
ENSG00000130522	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	nsv532614	chr19:18033043-18573963	Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	204 gene(s)	inside rSNPs	diseases
2	esv3323899	chr19:18343484-18620429	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS 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 miRNA	162 gene(s)	inside rSNPs	diseases
3	nsv911274	chr19:18440942-18691942	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
4	nsv1057795	chr19:18453362-18883844	Active TSS Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
5	nsv543925	chr19:18453362-18883844	Weak transcription Genic enhancers Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
6	nsv428018	chr19:18454891-18663981	Enhancers Genic enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	61 gene(s)	inside rSNPs	diseases
7	nsv911275	chr19:18484922-18586759	Weak transcription Enhancers Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	50 gene(s)	inside rSNPs	diseases
8	nsv911276	chr19:18497141-18554972	Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	47 gene(s)	inside rSNPs	diseases
9	nsv911277	chr19:18520231-18552139	Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
10	nsv1060687	chr19:18522527-18643218	Genic enhancers Strong transcription Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
11	nsv911278	chr19:18526536-18550276	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	39 gene(s)	inside rSNPs	diseases
12	nsv911279	chr19:18533642-18550276	Flanking Active TSS Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	26 gene(s)	inside rSNPs	diseases
13	nsv911280	chr19:18533642-18552139	Genic enhancers Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
14	nsv532615	chr19:18534867-18796031	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
15	esv3429815	chr19:18543377-18545925	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18532800-18547600	Weak transcription	HepG2	liver
2	chr19:18537400-18544000	Weak transcription	HMEC	breast
3	chr19:18538000-18547600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr19:18538000-18548400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
5	chr19:18539200-18544000	Enhancers	Fetal Heart	heart
6	chr19:18540800-18544000	Weak transcription	Gastric	stomach
7	chr19:18540800-18544000	Weak transcription	Small Intestine	intestine
8	chr19:18540800-18545400	Weak transcription	A549	lung
9	chr19:18541000-18547800	Weak transcription	HSMMtube	muscle
10	chr19:18541200-18544200	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr19:18541600-18544000	Strong transcription	Dnd41	blood
12	chr19:18541600-18546800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr19:18541600-18548000	Weak transcription	Stomach Mucosa	stomach
14	chr19:18541800-18545200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr19:18542600-18548000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr19:18542800-18544400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr19:18542800-18545800	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr19:18543000-18544000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
19	chr19:18543000-18544000	Flanking Active TSS	GM12878-XiMat	blood
20	chr19:18543000-18544200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
21	chr19:18543200-18544200	Flanking Active TSS	K562	blood
22	chr19:18543200-18544400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr19:18543200-18545400	Enhancers	Spleen	Spleen
24	chr19:18543400-18544000	Active TSS	Brain Germinal Matrix	brain
25	chr19:18543400-18544000	Enhancers	Fetal Muscle Trunk	muscle
26	chr19:18543400-18544000	Enhancers	Right Ventricle	heart
27	chr19:18543400-18544200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
28	chr19:18543400-18546200	Enhancers	Fetal Brain Male	brain
29	chr19:18543600-18544000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
30	chr19:18543600-18544000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
31	chr19:18543600-18544000	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
32	chr19:18543600-18544000	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr19:18543600-18544000	Flanking Active TSS	Primary T cells from cord blood	blood
34	chr19:18543600-18544000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
35	chr19:18543600-18544000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
36	chr19:18543600-18544000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
37	chr19:18543600-18544000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
38	chr19:18543600-18544000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
39	chr19:18543600-18544000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
40	chr19:18543600-18544000	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr19:18543600-18544000	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr19:18543600-18544000	Enhancers	Brain Angular Gyrus	brain
43	chr19:18543600-18544000	Enhancers	Brain Inferior Temporal Lobe	brain
44	chr19:18543600-18544000	Enhancers	Colon Smooth Muscle	Colon
45	chr19:18543600-18544000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
46	chr19:18543600-18544000	Enhancers	Esophagus	oesophagus
47	chr19:18543600-18544000	Enhancers	Left Ventricle	heart
48	chr19:18543600-18544000	Enhancers	Lung	lung
49	chr19:18543600-18544000	Enhancers	Pancreas	Pancrea
50	chr19:18543600-18544000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle

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