Variant report

Variant	rs377356617
Chromosome Location	chr19:40697996-40697997
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	UBTF	chr19:40697644-40698013	K562	blood:	n/a	n/a
2	POLR2A	chr19:40697759-40698033	HUVEC	blood vessel:	n/a	n/a
3	MAX	chr19:40696214-40698398	A549	lung:	n/a	n/a
4	POLR2A	chr19:40696657-40698101	HUVEC	blood vessel:	n/a	n/a
5	POLR2A	chr19:40697755-40698137	A549	lung:	n/a	n/a
6	MAZ	chr19:40697837-40698037	Hela-S3	cervix:	n/a	n/a
7	CTCF	chr19:40697940-40698090	HAc	cerebellar:	n/a	n/a
8	RAD21	chr19:40697658-40698028	H1-hESC	embryonic stem cell:	n/a	n/a
9	CHD1	chr19:40697874-40698028	GM12878	blood:	n/a	n/a
10	SIN3A	chr19:40696667-40698071	H1-hESC	embryonic stem cell:	n/a	chr19:40696898-40696907 chr19:40696890-40696901 chr19:40697557-40697570
11	POLR2A	chr19:40697935-40698116	A549	lung:	n/a	n/a
12	POLR2A	chr19:40697782-40698167	GM12878	blood:	n/a	n/a
13	REST	chr19:40696167-40699848	PANC-1	pancreas:	n/a	chr19:40697230-40697243 chr19:40696949-40696962 chr19:40697557-40697570 chr19:40697230-40697243 chr19:40697557-40697575 chr19:40697919-40697929
14	E2F6	chr19:40697678-40698354	A549	lung:	n/a	chr19:40697918-40697928
15	MAX	chr19:40697690-40698257	H1-hESC	embryonic stem cell:	n/a	n/a
16	PAX5	chr19:40697765-40698150	GM12892	blood:	n/a	n/a
17	RAD21	chr19:40697548-40698056	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr19:40696664-40698103	H1-neurons	neurons:	n/a	n/a
19	CREB1	chr19:40696650-40698092	A549	lung:	n/a	n/a
20	ZBTB7A	chr19:40697875-40698090	HepG2	liver:	n/a	n/a
21	REST	chr19:40696461-40698316	H1-neurons	neurons:	n/a	chr19:40697230-40697243 chr19:40696949-40696962 chr19:40697557-40697570 chr19:40697230-40697243 chr19:40697557-40697575 chr19:40697919-40697929
22	POLR2A	chr19:40696474-40698011	GM15510	blood:	n/a	n/a
23	POLR2A	chr19:40696312-40698035	GM12892	blood:	n/a	n/a
24	ZBTB7A	chr19:40697709-40698296	ECC-1	luminal epithelium:	n/a	n/a
25	HCFC1	chr19:40696216-40698059	Hela-S3	cervix:	n/a	n/a
26	EGR1	chr19:40697838-40698369	MCF-7	breast:	n/a	chr19:40698136-40698150
27	ZBTB7A	chr19:40696687-40698210	K562	blood:	n/a	n/a
28	EGR1	chr19:40697764-40698309	K562	blood:	n/a	chr19:40698136-40698150
29	CTCF	chr19:40697525-40698114	K562	blood:	n/a	chr19:40697793-40697806
30	YY1	chr19:40697721-40698042	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr19:40697793-40698133	GM12878	blood:	n/a	n/a
32	POLR2A	chr19:40697925-40698144	MCF-7	breast:	n/a	n/a
33	CEBPD	chr19:40697801-40698053	HepG2	liver:	n/a	n/a
34	CTCF	chr19:40697980-40698130	GM12872	blood:	n/a	n/a
35	MAZ	chr19:40696489-40698722	IMR90	lung:	n/a	n/a
36	EGR1	chr19:40697786-40698274	K562	blood:	n/a	chr19:40698136-40698150
37	YY1	chr19:40697672-40698159	HepG2	liver:	n/a	n/a
38	CTCF	chr19:40697920-40698070	GM12868	blood:	n/a	n/a
39	MAZ	chr19:40696669-40698083	K562	blood:	n/a	n/a
40	POLR2A	chr19:40697773-40698108	ProgFib	skin:	n/a	n/a
41	MAX	chr19:40697566-40698324	A549	lung:	n/a	n/a
42	EGR1	chr19:40697992-40698277	GM12878	blood:	n/a	chr19:40698136-40698150
43	MAZ	chr19:40696445-40698330	GM12878	blood:	n/a	n/a
44	POLR2A	chr19:40697514-40698356	PFSK-1	brain:	n/a	n/a
45	CCNT2	chr19:40697818-40698093	K562	blood:	n/a	chr19:40697929-40697938 chr19:40697923-40697932
46	ZBTB7A	chr19:40697832-40698032	HepG2	liver:	n/a	n/a
47	TCF7L2	chr19:40697723-40698219	PANC-1	pancreas:	n/a	chr19:40697767-40697774
48	POLR2A	chr19:40697700-40698236	PFSK-1	brain:	n/a	n/a
49	ZBTB7A	chr19:40697594-40698334	ECC-1	luminal epithelium:	n/a	n/a
50	EP300	chr19:40697722-40698135	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:40695407..40698481-chr19:40788292..40792778,5	K562	blood:
2	chr19:40697008..40699890-chr19:40723055..40726049,3	MCF-7	breast:
3	chr19:40476601..40478274-chr19:40696597..40698505,2	MCF-7	breast:
4	chr19:40695427..40698103-chr19:41080992..41083965,2	K562	blood:
5	chr19:40696418..40698830-chr19:40709554..40711978,2	K562	blood:
6	chr19:40696492..40699360-chr19:41104510..41106083,2	MCF-7	breast:

Variant related genes	Relation type
MAP3K10	TF binding region
ENSG00000130758	Chromatin interaction
ENSG00000013275	Chromatin interaction
ENSG00000221051	Chromatin interaction
ENSG00000160410	Chromatin interaction
ENSG00000105221	Chromatin interaction
ENSG00000207631	Chromatin interaction
ENSG00000174521	Chromatin interaction
ENSG00000090006	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 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	nsv911697	chr19:40599603-40711333	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	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
4	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
5	nsv911698	chr19:40689580-40725304	Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	14 gene(s)	inside rSNPs	diseases
6	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
7	nsv911700	chr19:40695598-40725304	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	14 gene(s)	inside rSNPs	diseases
8	nsv911701	chr19:40695598-40728417	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	14 gene(s)	inside rSNPs	diseases
9	esv3426637	chr19:40696137-40698985	Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
10	esv3389051	chr19:40696662-40698860	Active TSS Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
11	esv3427944	chr19:40696737-40699285	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
12	nsv911702	chr19:40697061-40731371	Flanking Bivalent TSS/Enh Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40695800-40698000	Active TSS	GM12878-XiMat	blood
2	chr19:40695800-40698600	Active TSS	Osteobl	bone
3	chr19:40696000-40698400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr19:40696000-40698400	Active TSS	Brain Angular Gyrus	brain
5	chr19:40696200-40698000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr19:40696200-40698000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
7	chr19:40696200-40698000	Active TSS	Brain Anterior Caudate	brain
8	chr19:40696200-40698000	Active TSS	Brain Hippocampus Middle	brain
9	chr19:40696200-40698000	Active TSS	Psoas Muscle	Psoas
10	chr19:40696200-40698000	Active TSS	Rectal Mucosa Donor 29	rectum
11	chr19:40696200-40698200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr19:40696400-40698000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr19:40696400-40698000	Active TSS	Brain Cingulate Gyrus	brain
14	chr19:40696400-40698000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
15	chr19:40696400-40698000	Active TSS	Duodenum Mucosa	Duodenum
16	chr19:40696400-40698000	Active TSS	Duodenum Smooth Muscle	Duodenum
17	chr19:40696400-40698000	Active TSS	Fetal Muscle Leg	muscle
18	chr19:40696400-40698000	Active TSS	Rectal Smooth Muscle	rectum
19	chr19:40696400-40698000	Active TSS	NH-A	brain
20	chr19:40696400-40698200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr19:40696400-40698200	Active TSS	iPS-20b Cell Line	embryonic stem cell
22	chr19:40696400-40698200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr19:40696400-40698200	Active TSS	Breast Myoepithelial Primary Cells	Breast
24	chr19:40696400-40698200	Active TSS	Primary T killer memory cells from peripheral blood	blood
25	chr19:40696400-40698200	Active TSS	Brain Inferior Temporal Lobe	brain
26	chr19:40696400-40698200	Active TSS	Brain Substantia Nigra	brain
27	chr19:40696400-40698200	Active TSS	Ovary	ovary
28	chr19:40696400-40698200	Active TSS	Right Atrium	heart
29	chr19:40696400-40698200	Active TSS	HepG2	liver
30	chr19:40696400-40698200	Active TSS	NHDF-Ad	bronchial
31	chr19:40696400-40698400	Active TSS	Rectal Mucosa Donor 31	rectum
32	chr19:40696400-40698400	Active TSS	K562	blood
33	chr19:40696400-40698600	Active TSS	Colon Smooth Muscle	Colon
34	chr19:40696400-40698600	Active TSS	HSMMtube	muscle
35	chr19:40696400-40698800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr19:40696400-40698800	Active TSS	HSMM	muscle
37	chr19:40696600-40698000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr19:40696600-40698000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr19:40696600-40698000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
40	chr19:40696600-40698000	Active TSS	Esophagus	oesophagus
41	chr19:40696600-40698000	Active TSS	Fetal Kidney	kidney
42	chr19:40696600-40698000	Active TSS	Lung	lung
43	chr19:40696600-40698000	Active TSS	Pancreas	Pancrea
44	chr19:40696600-40698000	Active TSS	Sigmoid Colon	Sigmoid Colon
45	chr19:40696600-40698000	Active TSS	Skeletal Muscle Male	skeletal muscle
46	chr19:40696600-40698000	Active TSS	Thymus	Thymus
47	chr19:40696600-40698000	Active TSS	Spleen	Spleen
48	chr19:40696600-40698200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
49	chr19:40696600-40698200	Active TSS	H1 Cell Line	embryonic stem cell
50	chr19:40696600-40698200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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