Variant report

Variant	rs186198958
Chromosome Location	chr19:40476517-40476518
allele	G/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	CREB1	chr19:40476461-40477413	H1-hESC	embryonic stem cell:	n/a	n/a
2	MYBL2	chr19:40476443-40477166	HepG2	liver:	n/a	n/a
3	USF2	chr19:40476445-40477065	GM12878	blood:	n/a	chr19:40476888-40476904 chr19:40476900-40476916
4	FOXM1	chr19:40476379-40477319	GM12878	blood:	n/a	n/a
5	TBL1XR1	chr19:40476268-40477275	K562	blood:	n/a	n/a
6	EP300	chr19:40476028-40477514	A549	lung:	n/a	chr19:40477350-40477363
7	MAZ	chr19:40476208-40477210	GM12878	blood:	n/a	chr19:40476864-40476871
8	USF1	chr19:40476465-40477284	ECC-1	luminal epithelium:	n/a	chr19:40476888-40476904 chr19:40476900-40476916
9	MAX	chr19:40476303-40477244	K562	blood:	n/a	chr19:40476864-40476871
10	POLR2A	chr19:40476383-40477338	ProgFib	skin:	n/a	n/a
11	MAX	chr19:40476239-40477231	H1-hESC	embryonic stem cell:	n/a	chr19:40476864-40476871
12	RELA	chr19:40476161-40477348	GM15510	blood:	n/a	n/a
13	MAX	chr19:40476220-40477357	HepG2	liver:	n/a	chr19:40476864-40476871
14	MAX	chr19:40476194-40477259	K562	blood:	n/a	chr19:40476864-40476871
15	RAD21	chr19:40476301-40477126	Hela-S3	cervix:	n/a	n/a
16	REST	chr19:40476010-40477874	A549	lung:	n/a	chr19:40477231-40477245 chr19:40476921-40476930
17	CEBPB	chr19:40476282-40477243	Hela-S3	cervix:	n/a	n/a
18	POLR2A	chr19:40476141-40477442	GM12892	blood:	n/a	n/a
19	HEY1	chr19:40476267-40477410	K562	blood:	n/a	n/a
20	SIX5	chr19:40475915-40477743	A549	lung:	n/a	chr19:40477012-40477021 chr19:40477008-40477022 chr19:40477010-40477019
21	GABPA	chr19:40476469-40477498	K562	blood:	n/a	chr19:40476873-40476887 chr19:40476876-40476890
22	BCL3	chr19:40475837-40478638	A549	lung:	n/a	chr19:40477755-40477762 chr19:40476909-40476922 chr19:40476887-40476895
23	USF1	chr19:40476477-40477153	A549	lung:	n/a	chr19:40476888-40476904 chr19:40476900-40476916
24	RCOR1	chr19:40476443-40477289	Hela-S3	cervix:	n/a	n/a
25	BACH1	chr19:40476429-40477075	H1-hESC	embryonic stem cell:	n/a	n/a
26	ZNF263	chr19:40476215-40477398	HEK293-T-REx	kidney:	n/a	n/a
27	MAX	chr19:40476157-40477260	A549	lung:	n/a	chr19:40476864-40476871
28	RELA	chr19:40476159-40477182	GM19193	blood:	n/a	n/a
29	CREB1	chr19:40476481-40477340	K562	blood:	n/a	n/a
30	POLR2A	chr19:40476289-40477307	GM12891	blood:	n/a	n/a
31	ZBTB33	chr19:40476301-40477315	A549	lung:	n/a	n/a
32	TBL1XR1	chr19:40476219-40477220	K562	blood:	n/a	n/a
33	HCFC1	chr19:40475893-40477949	Hela-S3	cervix:	n/a	n/a
34	RAD21	chr19:40476513-40477167	HepG2	liver:	n/a	n/a
35	POLR2A	chr19:40476024-40477870	Hela-S3	cervix:	n/a	n/a
36	STAT5A	chr19:40476480-40477201	GM12878	blood:	n/a	chr19:40477189-40477201 chr19:40477017-40477025 chr19:40477011-40477031
37	POLR2A	chr19:40476098-40477497	H1-hESC	embryonic stem cell:	n/a	n/a
38	POLR2A	chr19:40476165-40477791	K562	blood:	n/a	n/a
39	POU2F2	chr19:40476445-40477289	GM12891	blood:	n/a	chr19:40476882-40476894
40	ETS1	chr19:40476174-40477728	A549	lung:	n/a	chr19:40476882-40476895 chr19:40477009-40477022 chr19:40477043-40477050
41	TAF1	chr19:40476270-40477456	H1-hESC	embryonic stem cell:	n/a	n/a
42	MYC	chr19:40476172-40477307	NB4	blood:	n/a	chr19:40476864-40476871
43	POLR2A	chr19:40476358-40477284	HCT-116	colon:	n/a	n/a
44	GATA2	chr19:40476466-40477384	K562	blood:	n/a	chr19:40477114-40477128
45	RAD21	chr19:40476517-40477187	MCF-7	breast:	n/a	n/a
46	POLR2A	chr19:40476429-40477463	MCF-7	breast:	n/a	n/a
47	MXI1	chr19:40476418-40477148	H1-hESC	embryonic stem cell:	n/a	chr19:40476650-40476659
48	POLR2A	chr19:40476055-40477483	SK-N-MC	brain:	n/a	n/a
49	SMC3	chr19:40476353-40477507	Hela-S3	cervix:	n/a	n/a
50	CUX1	chr19:40476176-40477165	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:40475224..40479165-chr19:40500138..40503908,5	MCF-7	breast:
2	chr19:40476443..40477007-chr4:109541231..109541965,2	Hela-S3	cervix:
3	chr19:40475779..40479202-chr19:40484390..40487184,3	MCF-7	breast:
4	chr19:40476074..40478265-chr19:40727904..40730547,2	K562	blood:
5	chr19:40476362..40476867-chr8:48650522..48651379,2	Hela-S3	cervix:
6	chr19:40471803..40479510-chr19:40500414..40506141,13	K562	blood:
7	chr19:40474074..40479560-chr19:40500872..40505885,15	K562	blood:
8	chr19:40475954..40476782-chr9:140094691..140095436,2	Hela-S3	cervix:
9	chr19:40335423..40338376-chr19:40475745..40478585,3	MCF-7	breast:
10	chr19:40473843..40476809-chr19:40580140..40582711,2	K562	blood:
11	chr19:40474771..40476679-chr19:40510895..40512826,2	K562	blood:
12	chr19:40475223..40478471-chr19:40501440..40504433,4	MCF-7	breast:
13	chr11:8703528..8704467-chr19:40476058..40476859,2	Hela-S3	cervix:
14	chr19:40475627..40477448-chr19:40488528..40491173,2	MCF-7	breast:
15	chr19:40474771..40476909-chr19:40510895..40513738,3	K562	blood:
16	chr19:40471964..40473535-chr19:40475290..40476792,2	K562	blood:
17	chr12:27091241..27091864-chr19:40476355..40476971,2	Hela-S3	cervix:
18	chr19:40475179..40477026-chr19:40560831..40562342,2	K562	blood:
19	chr19:40476351..40476870-chr21:27392238..27393165,2	Hela-S3	cervix:
20	chr19:40473089..40482317-chr19:40483091..40492558,21	K562	blood:
21	chr19:40476398..40477126-chr8:144640195..144640964,2	HCT-116	colon:

Variant related genes	Relation type
PSMC4	TF binding region
ENSG00000234492	Chromatin interaction
ENSG00000064102	Chromatin interaction
ENSG00000187187	Chromatin interaction
ENSG00000128000	Chromatin interaction
ENSG00000105202	Chromatin interaction
ENSG00000105219	Chromatin interaction
ENSG00000109475	Chromatin interaction
ENSG00000013275	Chromatin interaction
ENSG00000104518	Chromatin interaction
ENSG00000111790	Chromatin interaction
ENSG00000176058	Chromatin interaction
ENSG00000166441	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758498	chr19:40227904-40521130	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Active TSS 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 miRNA target site	61 gene(s)	inside rSNPs	diseases
2	esv2758760	chr19:40227904-40521130	Genic enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv428022	chr19:40227904-40521130	Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv917321	chr19:40403192-40694875	Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv9726	chr19:40476453-40478048	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	17 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	chr19:40475200-40476600	Flanking Active TSS	Dnd41	blood
2	chr19:40475600-40476600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
3	chr19:40475600-40476600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
4	chr19:40475600-40476600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
5	chr19:40475600-40476600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr19:40475800-40477200	Active TSS	Primary T cells from cord blood	blood
7	chr19:40475800-40477600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr19:40475800-40477600	Active TSS	Rectal Mucosa Donor 29	rectum
9	chr19:40475800-40477600	Active TSS	NHEK	skin
10	chr19:40476000-40476600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
11	chr19:40476000-40476600	Flanking Active TSS	Liver	Liver
12	chr19:40476000-40476600	Flanking Active TSS	HUVEC	blood vessel
13	chr19:40476000-40476800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
14	chr19:40476000-40476800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr19:40476000-40476800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
16	chr19:40476000-40476800	Flanking Active TSS	Stomach Smooth Muscle	stomach
17	chr19:40476000-40477400	Active TSS	Brain Germinal Matrix	brain
18	chr19:40476000-40477400	Active TSS	Thymus	Thymus
19	chr19:40476000-40477600	Active TSS	Brain Cingulate Gyrus	brain
20	chr19:40476000-40477600	Active TSS	Fetal Lung	lung
21	chr19:40476000-40477600	Active TSS	Fetal Stomach	stomach
22	chr19:40476000-40477600	Active TSS	Right Ventricle	heart
23	chr19:40476000-40477800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr19:40476000-40477800	Active TSS	iPS-15b Cell Line	embryonic stem cell
25	chr19:40476000-40477800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
26	chr19:40476000-40477800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr19:40476000-40477800	Active TSS	Pancreatic Islets	Pancreatic Islet
28	chr19:40476000-40477800	Active TSS	Small Intestine	intestine
29	chr19:40476000-40477800	Active TSS	NHDF-Ad	bronchial
30	chr19:40476000-40477800	Active TSS	NHLF	lung
31	chr19:40476000-40478000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr19:40476000-40478000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr19:40476000-40478000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr19:40476000-40478000	Active TSS	HUES6 Cell Line	embryonic stem cell
35	chr19:40476000-40478000	Active TSS	HUES64 Cell Line	embryonic stem cell
36	chr19:40476000-40478000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr19:40476000-40478000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr19:40476000-40478000	Active TSS	Psoas Muscle	Psoas
39	chr19:40476000-40478000	Active TSS	HSMM	muscle
40	chr19:40476000-40478200	Active TSS	H9 Cell Line	embryonic stem cell
41	chr19:40476000-40478200	Active TSS	HUES48 Cell Line	embryonic stem cell
42	chr19:40476000-40478200	Active TSS	iPS-18 Cell Line	embryonic stem cell
43	chr19:40476000-40478200	Active TSS	iPS-20b Cell Line	embryonic stem cell
44	chr19:40476000-40478200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr19:40476000-40478200	Active TSS	Right Atrium	heart
46	chr19:40476200-40476600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr19:40476200-40476600	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr19:40476200-40476600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr19:40476200-40476600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
50	chr19:40476200-40476600	Flanking Active TSS	Primary B cells from peripheral blood	blood

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