Variant report

Variant	rs200969503
Chromosome Location	chr19:42754716-42754717
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:48)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:48 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TCF12	chr19:42754155-42755527	A549	lung:	n/a	chr19:42754917-42754927
2	POLR2A	chr19:42754694-42755612	HL-60	blood:	n/a	n/a
3	POLR2A	chr19:42754585-42755487	HUVEC	blood vessel:	n/a	n/a
4	POLR2A	chr19:42749868-42759399	HepG2	liver:	n/a	n/a
5	POLR2A	chr19:42754561-42755172	A549	lung:	n/a	n/a
6	EP300	chr19:42754659-42755321	SK-N-SH	brain:	n/a	n/a
7	MXI1	chr19:42754690-42755757	IMR90	lung:	n/a	n/a
8	POLR2A	chr19:42754505-42754835	GM12892	blood:	n/a	n/a
9	POLR2A	chr19:42754652-42755299	U87	brain:	n/a	n/a
10	REST	chr19:42754697-42755205	A549	lung:	n/a	chr19:42754933-42754946 chr19:42755131-42755141
11	POLR2A	chr19:42754572-42754733	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr19:42752554-42755496	A549	lung:	n/a	n/a
13	POLR2A	chr19:42754371-42755215	HUVEC	blood vessel:	n/a	n/a
14	POLR2A	chr19:42746451-42758038	PFSK-1	brain:	n/a	n/a
15	MAX	chr19:42754668-42755561	A549	lung:	n/a	chr19:42755056-42755065
16	POLR2A	chr19:42754570-42754827	GM12878	blood:	n/a	n/a
17	EP300	chr19:42754263-42755191	A549	lung:	n/a	n/a
18	POLR2A	chr19:42754500-42754933	GM12892	blood:	n/a	n/a
19	POLR2A	chr19:42754691-42755235	SK-N-MC	brain:	n/a	n/a
20	POLR2A	chr19:42754684-42754783	ProgFib	skin:	n/a	n/a
21	POLR2A	chr19:42754294-42755132	A549	lung:	n/a	n/a
22	BCL3	chr19:42754594-42755393	A549	lung:	n/a	n/a
23	POLR2A	chr19:42754031-42755186	A549	lung:	n/a	n/a
24	POLR2A	chr19:42754133-42755267	HUVEC	blood vessel:	n/a	n/a
25	JUND	chr19:42754462-42755604	A549	lung:	n/a	n/a
26	POLR2A	chr19:42754548-42754847	HepG2	liver:	n/a	n/a
27	BCL3	chr19:42753721-42755351	A549	lung:	n/a	n/a
28	POLR2A	chr19:42753422-42755373	HepG2	liver:	n/a	n/a
29	POLR2A	chr19:42746087-42755524	HepG2	liver:	n/a	n/a
30	POLR2A	chr19:42748210-42757941	K562	blood:	n/a	n/a
31	SIX5	chr19:42753885-42755466	A549	lung:	n/a	n/a
32	POLR2A	chr19:42745727-42755683	PFSK-1	brain:	n/a	n/a
33	MAX	chr19:42754682-42755432	A549	lung:	n/a	chr19:42755056-42755065
34	POLR2A	chr19:42754303-42754822	A549	lung:	n/a	n/a
35	POLR2A	chr19:42753984-42755144	GM12891	blood:	n/a	n/a
36	POLR2A	chr19:42754657-42754790	Hela-S3	cervix:	n/a	n/a
37	POLR2A	chr19:42754436-42755444	SK-N-SH	brain:	n/a	n/a
38	POLR2A	chr19:42749860-42754813	K562	blood:	n/a	n/a
39	POLR2A	chr19:42754594-42754755	H1-hESC	embryonic stem cell:	n/a	n/a
40	POLR2A	chr19:42753795-42754994	GM12891	blood:	n/a	n/a
41	POLR2A	chr19:42753733-42754902	GM12892	blood:	n/a	n/a
42	POLR2A	chr19:42749752-42759489	K562	blood:	n/a	n/a
43	FOSL2	chr19:42754580-42755483	A549	lung:	n/a	n/a
44	POLR2A	chr19:42748038-42760873	SK-N-MC	brain:	n/a	n/a
45	POLR2A	chr19:42749754-42755567	HepG2	liver:	n/a	n/a
46	POLR2A	chr19:42752381-42755584	GM12878	blood:	n/a	n/a
47	POLR2A	chr19:42753780-42755165	MCF-7	breast:	n/a	n/a
48	POLR2A	chr19:42753273-42755001	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr19:42754219..42757685-chr19:42805206..42807524,5	MCF-7	breast:
2	chr19:42747132..42763787-chr19:42768368..42776785,67	MCF-7	breast:
3	chr19:42722598..42724600-chr19:42754486..42756039,2	MCF-7	breast:
4	chr19:42754290..42756701-chr19:42804402..42806386,2	K562	blood:
5	chr19:42744297..42761073-chr19:42776978..42802286,113	MCF-7	breast:
6	chr19:42743599..42762610-chr19:42780302..42801550,102	MCF-7	breast:

No data

Variant related genes	Relation type
ERF	TF binding region
ENSG00000160570	Chromatin interaction
ENSG00000167625	Chromatin interaction
ENSG00000079432	Chromatin interaction
ENSG00000188368	Chromatin interaction
ENSG00000079462	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522854	chr19:42120283-42931004	Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
2	nsv520239	chr19:42357455-42931004	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats 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
3	esv1805469	chr19:42367635-42798851	Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
4	nsv911782	chr19:42514712-42931004	Bivalent/Poised TSS Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
5	esv1794508	chr19:42580026-42791462	Strong transcription Active TSS Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
6	nsv1055554	chr19:42619671-42821642	Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	53 gene(s)	inside rSNPs	diseases
7	nsv833833	chr19:42657276-42783122	Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
8	nsv526186	chr19:42676481-43203507	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	62 gene(s)	inside rSNPs	diseases
9	esv2422471	chr19:42733141-43669485	Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	70 gene(s)	inside rSNPs	diseases
10	nsv833834	chr19:42736444-42835027	Genic enhancers Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	42 gene(s)	inside rSNPs	diseases
11	nsv911784	chr19:42741124-42787664	Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	36 gene(s)	inside rSNPs	diseases
12	nsv911785	chr19:42741124-42917545	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	46 gene(s)	inside rSNPs	diseases
13	nsv911786	chr19:42744234-42797959	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	39 gene(s)	inside rSNPs	diseases
14	esv1802977	chr19:42754437-42789945	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42749000-42757000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr19:42749400-42755000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr19:42749400-42755800	Enhancers	Fetal Heart	heart
4	chr19:42749400-42756200	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr19:42749600-42754800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr19:42749600-42755000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr19:42750000-42755000	Genic enhancers	Fetal Muscle Trunk	muscle
8	chr19:42750400-42755200	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr19:42750600-42755600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr19:42750800-42755000	Strong transcription	Dnd41	blood
11	chr19:42751000-42754800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr19:42751000-42756200	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr19:42751200-42754800	Genic enhancers	Cortex derived primary cultured neurospheres	brain
14	chr19:42751200-42755400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr19:42751400-42755000	Weak transcription	GM12878-XiMat	blood
16	chr19:42752400-42755000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
17	chr19:42752600-42754800	Strong transcription	Primary neutrophils fromperipheralblood	blood
18	chr19:42752600-42754800	Genic enhancers	Right Ventricle	heart
19	chr19:42752600-42755000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr19:42752600-42755600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr19:42752600-42757400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr19:42752800-42754800	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr19:42752800-42754800	Genic enhancers	Liver	Liver
24	chr19:42752800-42754800	Strong transcription	Rectal Mucosa Donor 29	rectum
25	chr19:42753000-42754800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
26	chr19:42753000-42755000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
27	chr19:42753200-42754800	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr19:42753400-42755000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr19:42753600-42754800	Genic enhancers	Pancreas	Pancrea
30	chr19:42753600-42755000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr19:42753600-42755200	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr19:42753600-42756400	Genic enhancers	Spleen	Spleen
33	chr19:42753800-42754800	Strong transcription	HUES48 Cell Line	embryonic stem cell
34	chr19:42753800-42754800	Genic enhancers	Lung	lung
35	chr19:42753800-42754800	Genic enhancers	Rectal Smooth Muscle	rectum
36	chr19:42753800-42755000	Genic enhancers	Gastric	stomach
37	chr19:42753800-42756000	Genic enhancers	HepG2	liver
38	chr19:42753800-42757000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
39	chr19:42753800-42757800	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr19:42754000-42754800	Genic enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr19:42754000-42754800	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
42	chr19:42754000-42754800	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
43	chr19:42754000-42754800	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
44	chr19:42754000-42754800	Strong transcription	Hela-S3	cervix
45	chr19:42754000-42755000	Genic enhancers	Primary T cells from cord blood	blood
46	chr19:42754000-42755000	Genic enhancers	Primary T helper cells fromperipheralblood	blood
47	chr19:42754000-42755000	Genic enhancers	Fetal Thymus	thymus
48	chr19:42754000-42755800	Genic enhancers	Fetal Intestine Small	intestine
49	chr19:42754000-42755800	Genic enhancers	Fetal Stomach	stomach
50	chr19:42754000-42756000	Enhancers	ES-I3 Cell Line	embryonic stem cell

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