Variant report

Variant	rs138927011
Chromosome Location	chr19:40791607-40791608
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	RCOR1	chr19:40791026-40791986	K562	blood:	n/a	n/a
2	POLR2A	chr19:40789333-40791875	GM12878	blood:	n/a	n/a
3	POLR2A	chr19:40790287-40791908	K562	blood:	n/a	n/a
4	TBL1XR1	chr19:40790675-40791908	K562	blood:	n/a	n/a
5	EP300	chr19:40790994-40791879	K562	blood:	n/a	chr19:40791338-40791347
6	ELF1	chr19:40791149-40791706	HepG2	liver:	n/a	chr19:40791337-40791348
7	MAX	chr19:40791262-40791756	MCF-7	breast:	n/a	n/a
8	TBL1XR1	chr19:40790216-40791906	GM12878	blood:	n/a	n/a
9	SP1	chr19:40791288-40791873	GM12878	blood:	n/a	n/a
10	GATA3	chr19:40789997-40792033	A549	lung:	n/a	chr19:40791339-40791349
11	CBX3	chr19:40791287-40791973	K562	blood:	n/a	n/a
12	MAX	chr19:40790296-40791932	HepG2	liver:	n/a	chr19:40791049-40791059
13	POLR2A	chr19:40789941-40791876	K562	blood:	n/a	n/a
14	TAF1	chr19:40791550-40791775	GM12892	blood:	n/a	n/a
15	POLR2A	chr19:40790235-40791927	Hela-S3	cervix:	n/a	n/a
16	SIX5	chr19:40791266-40791968	A549	lung:	n/a	n/a
17	POLR2A	chr19:40788195-40792187	SK-N-MC	brain:	n/a	n/a
18	FOXA1	chr19:40791325-40791865	HepG2	liver:	n/a	n/a
19	GABPA	chr19:40790539-40791721	K562	blood:	n/a	chr19:40791515-40791526 chr19:40790811-40790820 chr19:40791428-40791439 chr19:40791071-40791085 chr19:40791425-40791439 chr19:40791515-40791529 chr19:40791428-40791442 chr19:40791512-40791526 chr19:40791430-40791439
20	FOXM1	chr19:40791299-40791849	GM12878	blood:	n/a	n/a
21	POLR2A	chr19:40790163-40791870	GM15510	blood:	n/a	n/a
22	TAF1	chr19:40791263-40791801	SK-N-SH	brain:	n/a	n/a
23	GABPA	chr19:40791166-40791826	H1-hESC	embryonic stem cell:	n/a	chr19:40791515-40791526 chr19:40791428-40791439 chr19:40791425-40791439 chr19:40791515-40791529 chr19:40791428-40791442 chr19:40791512-40791526 chr19:40791430-40791439
24	PAX5	chr19:40791594-40791835	GM12878	blood:	n/a	n/a
25	MYC	chr19:40790245-40791846	K562	blood:	n/a	chr19:40791049-40791059
26	STAT3	chr19:40791371-40791804	MCF10A-Er-Src	breast:	n/a	chr19:40791681-40791692 chr19:40791573-40791584 chr19:40791569-40791589
27	FOS	chr19:40791389-40791747	MCF10A-Er-Src	breast:	n/a	n/a
28	MYBL2	chr19:40791312-40792001	HepG2	liver:	n/a	n/a
29	POLR2A	chr19:40789385-40791876	GM12878	blood:	n/a	n/a
30	HEY1	chr19:40791379-40791787	HepG2	liver:	n/a	n/a
31	NFIC	chr19:40791405-40791750	HepG2	liver:	n/a	n/a
32	POLR2A	chr19:40790902-40791934	HCT-116	colon:	n/a	n/a
33	ELF1	chr19:40791177-40791759	HepG2	liver:	n/a	chr19:40791337-40791348
34	POU2F2	chr19:40791456-40791766	GM12878	blood:	n/a	chr19:40791592-40791610
35	EP300	chr19:40790379-40791903	A549	lung:	n/a	chr19:40791338-40791347 chr19:40790813-40790829
36	TCF7L2	chr19:40791015-40792058	HEK293	kidney:	n/a	chr19:40791604-40791618 chr19:40791607-40791617 chr19:40791603-40791619 chr19:40791604-40791618 chr19:40791603-40791619 chr19:40791607-40791616
37	USF2	chr19:40791401-40791753	Hela-S3	cervix:	n/a	n/a
38	MAX	chr19:40790489-40791816	Hela-S3	cervix:	n/a	chr19:40791049-40791059
39	E2F6	chr19:40790685-40791634	K562	blood:	n/a	chr19:40791516-40791525 chr19:40790705-40790712 chr19:40790740-40790749 chr19:40791321-40791336 chr19:40790805-40790815 chr19:40791429-40791438
40	POLR2A	chr19:40790467-40791954	H1-neurons	neurons:	n/a	n/a
41	ZNF143	chr19:40790939-40791945	H1-hESC	embryonic stem cell:	n/a	n/a
42	POLR2A	chr19:40791293-40791932	GM12892	blood:	n/a	n/a
43	POLR2A	chr19:40790578-40791794	HepG2	liver:	n/a	n/a
44	FOXA1	chr19:40791396-40791817	T-47D	breast:	n/a	n/a
45	POLR2A	chr19:40791274-40791861	H1-hESC	embryonic stem cell:	n/a	n/a
46	MYC	chr19:40791595-40791688	HepG2	liver:	n/a	n/a
47	BCL3	chr19:40791230-40792049	A549	lung:	n/a	chr19:40791339-40791348
48	TAF1	chr19:40790309-40791915	GM12878	blood:	n/a	n/a
49	TCF7L2	chr19:40791020-40792028	Hela-S3	cervix:	n/a	chr19:40791604-40791618 chr19:40791607-40791617 chr19:40791603-40791619 chr19:40791604-40791618 chr19:40791603-40791619 chr19:40791607-40791616
50	POLR2A	chr19:40790735-40791946	PFSK-1	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:40695407..40698481-chr19:40788292..40792778,5	K562	blood:
2	chr19:40791054..40792631-chr19:40929438..40932083,2	K562	blood:
3	chr19:40789879..40793059-chr19:40870323..40872928,3	K562	blood:
4	chr19:40746630..40748490-chr19:40790537..40793116,2	MCF-7	breast:
5	chr19:40790880..40792731-chr19:40929438..40932853,4	K562	blood:
6	chr11:47736264..47737264-chr19:40791442..40792121,2	NB4	blood:
7	chr12:112856411..112856934-chr19:40791459..40792121,2	NB4	blood:
8	chr19:40790365..40793125-chr19:40949596..40951580,2	K562	blood:
9	chr19:40791169..40791672-chr5:141303112..141303640,2	Hela-S3	cervix:

Variant related genes	Relation type
AKT2	TF binding region
MIR641	TF binding region
ENSG00000167565	Chromatin interaction
ENSG00000165923	Chromatin interaction
ENSG00000179295	Chromatin interaction
ENSG00000089009	Chromatin interaction
ENSG00000105221	Chromatin interaction
ENSG00000130758	Chromatin interaction
ENSG00000105223	Chromatin interaction
ENSG00000081791	Chromatin interaction
ENSG00000197019	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1826663	chr19:40529943-41023601	Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
2	esv2758499	chr19:40612420-40839520	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Enhancers 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 miRNA target site	34 gene(s)	inside rSNPs	diseases
3	esv2758761	chr19:40612420-40839520	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv911699	chr19:40691632-40816530	Flanking Active TSS Active TSS Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
5	esv1833489	chr19:40722123-40923908	Enhancers Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
6	esv3373348	chr19:40789637-40792485	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
7	esv3366050	chr19:40790162-40792260	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40789400-40791800	Active TSS	HUES48 Cell Line	embryonic stem cell
2	chr19:40789600-40792000	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr19:40789600-40792200	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr19:40789800-40791800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr19:40790000-40791800	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr19:40790000-40791800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr19:40790000-40792000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr19:40790000-40792000	Active TSS	Ovary	ovary
9	chr19:40790000-40792200	Active TSS	H9 Cell Line	embryonic stem cell
10	chr19:40790000-40792400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr19:40790200-40791800	Active TSS	iPS-15b Cell Line	embryonic stem cell
12	chr19:40790200-40791800	Active TSS	iPS-20b Cell Line	embryonic stem cell
13	chr19:40790200-40791800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
14	chr19:40790200-40791800	Active TSS	Esophagus	oesophagus
15	chr19:40790200-40791800	Active TSS	GM12878-XiMat	blood
16	chr19:40790200-40792000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
17	chr19:40790200-40792000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr19:40790200-40792000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr19:40790200-40792000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr19:40790200-40792000	Active TSS	Aorta	Aorta
21	chr19:40790200-40792000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
22	chr19:40790200-40792000	Active TSS	Left Ventricle	heart
23	chr19:40790200-40792000	Active TSS	Psoas Muscle	Psoas
24	chr19:40790200-40792000	Active TSS	Right Ventricle	heart
25	chr19:40790200-40792200	Active TSS	Thymus	Thymus
26	chr19:40790400-40791800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr19:40790400-40791800	Active TSS	HUES6 Cell Line	embryonic stem cell
28	chr19:40790400-40791800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr19:40790400-40791800	Active TSS	Brain Anterior Caudate	brain
30	chr19:40790400-40791800	Active TSS	Brain Inferior Temporal Lobe	brain
31	chr19:40790400-40791800	Active TSS	Colon Smooth Muscle	Colon
32	chr19:40790400-40791800	Active TSS	Sigmoid Colon	Sigmoid Colon
33	chr19:40790400-40792000	Active TSS	Fetal Brain Female	brain
34	chr19:40790400-40792600	Active TSS	Duodenum Smooth Muscle	Duodenum
35	chr19:40790600-40791800	Active TSS	Primary B cells from cord blood	blood
36	chr19:40790600-40791800	Active TSS	Pancreas	Pancrea
37	chr19:40790600-40792200	Active TSS	Duodenum Mucosa	Duodenum
38	chr19:40790800-40791800	Active TSS	Spleen	Spleen
39	chr19:40790800-40792400	Active TSS	HepG2	liver
40	chr19:40790800-40792600	Active TSS	Colonic Mucosa	Colon
41	chr19:40791200-40791800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr19:40791400-40792000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr19:40791400-40792000	Flanking Active TSS	Fetal Intestine Small	intestine
44	chr19:40791600-40791800	Flanking Active TSS	Placenta Amnion	Placenta Amnion
45	chr19:40791600-40792000	Flanking Active TSS	H1 Cell Line	embryonic stem cell
46	chr19:40791600-40792000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr19:40791600-40792000	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr19:40791600-40792000	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr19:40791600-40792000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr19:40791600-40792000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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