Variant report

Variant	rs200824781
Chromosome Location	chr19:40697610-40697611
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	POLR2A	chr19:40696641-40697721	A549	lung:	n/a	n/a
2	MAX	chr19:40696214-40698398	A549	lung:	n/a	n/a
3	POLR2A	chr19:40696657-40698101	HUVEC	blood vessel:	n/a	n/a
4	SIN3A	chr19:40696667-40698071	H1-hESC	embryonic stem cell:	n/a	chr19:40696898-40696907 chr19:40696890-40696901 chr19:40697557-40697570
5	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
6	JUN	chr19:40695794-40697935	K562	blood:	n/a	chr19:40697375-40697384
7	RAD21	chr19:40697548-40698056	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr19:40696664-40698103	H1-neurons	neurons:	n/a	n/a
9	CTCF	chr19:40697580-40697870	GM12866	blood:	n/a	chr19:40697793-40697806
10	CREB1	chr19:40696650-40698092	A549	lung:	n/a	n/a
11	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
12	POLR2A	chr19:40696474-40698011	GM15510	blood:	n/a	n/a
13	POLR2A	chr19:40696312-40698035	GM12892	blood:	n/a	n/a
14	HCFC1	chr19:40696216-40698059	Hela-S3	cervix:	n/a	n/a
15	ZBTB7A	chr19:40696687-40698210	K562	blood:	n/a	n/a
16	CTCF	chr19:40697525-40698114	K562	blood:	n/a	chr19:40697793-40697806
17	YY1	chr19:40697587-40697961	K562	blood:	n/a	n/a
18	CTCF	chr19:40697600-40697750	NHEK	skin:	n/a	n/a
19	POLR2A	chr19:40696365-40697708	GM12878	blood:	n/a	n/a
20	POLR2A	chr19:40697469-40697663	HUVEC	blood vessel:	n/a	n/a
21	YY1	chr19:40697062-40697708	GM12892	blood:	n/a	chr19:40697314-40697325 chr19:40697316-40697325 chr19:40697319-40697333 chr19:40697313-40697322 chr19:40697319-40697328 chr19:40697233-40697242 chr19:40697313-40697327
22	MAZ	chr19:40696489-40698722	IMR90	lung:	n/a	n/a
23	MAZ	chr19:40696669-40698083	K562	blood:	n/a	n/a
24	POLR2A	chr19:40696368-40697880	K562	blood:	n/a	n/a
25	POLR2A	chr19:40696655-40697693	A549	lung:	n/a	n/a
26	MAX	chr19:40697566-40698324	A549	lung:	n/a	n/a
27	POLR2A	chr19:40696601-40697679	HepG2	liver:	n/a	n/a
28	MAZ	chr19:40696445-40698330	GM12878	blood:	n/a	n/a
29	POLR2A	chr19:40697514-40698356	PFSK-1	brain:	n/a	n/a
30	ZBTB7A	chr19:40697594-40698334	ECC-1	luminal epithelium:	n/a	n/a
31	POLR2A	chr19:40696764-40697633	H1-neurons	neurons:	n/a	n/a
32	POLR2A	chr19:40697333-40697756	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chr19:40696276-40697624	GM12892	blood:	n/a	n/a
34	YY1	chr19:40697595-40698046	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr19:40697593-40698169	SK-N-MC	brain:	n/a	n/a
36	SIX5	chr19:40696350-40697614	A549	lung:	n/a	chr19:40697292-40697301 chr19:40696919-40696928 chr19:40697200-40697216 chr19:40697294-40697303 chr19:40696921-40696930
37	HMGN3	chr19:40696725-40698166	K562	blood:	n/a	n/a
38	CREB1	chr19:40696878-40697616	K562	blood:	n/a	n/a
39	CREB1	chr19:40696363-40697843	GM12878	blood:	n/a	n/a
40	ZBTB7A	chr19:40697589-40698156	K562	blood:	n/a	n/a
41	CREB1	chr19:40696550-40697662	HepG2	liver:	n/a	n/a
42	SIN3AK20	chr19:40696231-40700076	PANC-1	pancreas:	n/a	n/a
43	HCFC1	chr19:40696575-40697960	K562	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:40697601-40697651	T-47D	breast:	n/a
2	chr19:40697601-40697651	Caco-2	colon:	n/a
3	chr19:40697601-40697651	HMEC	breast:	n/a
4	chr19:40697601-40697651	BE2_C	brain:	n/a
5	chr19:40697601-40697651	GM06990	blood:	n/a
6	chr19:40697601-40697651	GM12892	blood:	n/a
7	chr19:40697601-40697651	MCF-7	breast:	n/a
8	chr19:40697601-40697651	SK-N-SH_RA	brain:	n/a
9	chr19:40697601-40697651	ECC-1	luminal epithelium:	n/a
10	chr19:40697601-40697651	GM19239	blood:	n/a
11	chr19:40697601-40697651	PrEC	prostate:	n/a
12	chr19:40697601-40697651	HL-60	blood:	n/a
13	chr19:40697601-40697651	HUVEC	blood vessel:	n/a
14	chr19:40697601-40697651	HCF	heart:	n/a
15	chr19:40697601-40697651	A549	lung:	n/a
16	chr19:40697601-40697651	AG04450	lung:	fetal
17	chr19:40697601-40697651	AG09319	gingival:	n/a
18	chr19:40697601-40697651	HRPEpiC	eye:	n/a
19	chr19:40697601-40697651	SKMC	muscle:	n/a
20	chr19:40697601-40697651	NB4	blood:	n/a
21	chr19:40697601-40697651	AoSMC	blood vessel:	n/a
22	chr19:40697601-40697651	PANC-1	pancreas:	n/a
23	chr19:40697601-40697651	ovcar-3	ovarian:	n/a
24	chr19:40697601-40697651	HCPEpiC	choroid plexus:	n/a
25	chr19:40697601-40697651	HepG2	liver:	n/a
26	chr19:40697601-40697651	K562	blood:	n/a
27	chr19:40697601-40697651	MCF10A-Er-Src	breast:	n/a
28	chr19:40697601-40697651	NT2-D1	testis:	n/a
29	chr19:40697601-40697651	AG04449	skin:	fetal
30	chr19:40697601-40697651	CMK	blood:	n/a
31	chr19:40697601-40697651	HCM	heart:	n/a
32	chr19:40697601-40697651	Hela-S3	cervix:	n/a
33	chr19:40697601-40697651	RPTEC	kidney:	n/a
34	chr19:40697601-40697651	HEK293	kidney:	embryo
35	chr19:40697601-40697651	HEEpiC	esophagus:	n/a
36	chr19:40697601-40697651	HCT-116	colon:	n/a
37	chr19:40697601-40697651	HIPEpiC	eye:	n/a
38	chr19:40697601-40697651	Hepatocyte	liver:	n/a
39	chr19:40697601-40697651	HRCEpiC	kidney:	n/a
40	chr19:40697601-40697651	HAEpiC	amniotic membrane:	n/a
41	chr19:40697601-40697651	H1-hESC	embryonic stem cell:	embryo
42	chr19:40697601-40697651	HNPCEpiC	eye:	n/a
43	chr19:40697601-40697651	IMR90	lung:	fetal
44	chr19:40697601-40697651	AG10803	skin:	n/a
45	chr19:40697601-40697651	HRE	kidney:	n/a
46	chr19:40697601-40697651	NH-A	brain:	n/a
47	chr19:40697601-40697651	LNCaP	prostate:	n/a
48	chr19:40697601-40697651	NHBE	bronchial:	n/a
49	chr19:40697601-40697651	BJ	skin:	n/a
50	chr19:40697601-40697651	Jurkat	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr13:111367593..111368509-chr19:40696817..40697667,2	HCT-116	colon:
2	chr19:40695407..40698481-chr19:40788292..40792778,5	K562	blood:
3	chr19:40697008..40699890-chr19:40723055..40726049,3	MCF-7	breast:
4	chr19:40476601..40478274-chr19:40696597..40698505,2	MCF-7	breast:
5	chr19:40695427..40698103-chr19:41080992..41083965,2	K562	blood:
6	chr19:40696418..40698830-chr19:40709554..40711978,2	K562	blood:
7	chr19:40696492..40699360-chr19:41104510..41106083,2	MCF-7	breast:

Variant related genes	Relation type
MAP3K10	TF binding region
MAP3K10	CpG island
ENSG00000174521	Chromatin interaction
ENSG00000105221	Chromatin interaction
ENSG00000090006	Chromatin interaction
ENSG00000013275	Chromatin interaction
ENSG00000153487	Chromatin interaction
ENSG00000207631	Chromatin interaction
ENSG00000160410	Chromatin interaction
ENSG00000130758	Chromatin interaction
ENSG00000221051	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	chr19:40696200-40697800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr19:40696200-40698000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr19:40696200-40698000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr19:40696200-40698000	Active TSS	Brain Anterior Caudate	brain
9	chr19:40696200-40698000	Active TSS	Brain Hippocampus Middle	brain
10	chr19:40696200-40698000	Active TSS	Psoas Muscle	Psoas
11	chr19:40696200-40698000	Active TSS	Rectal Mucosa Donor 29	rectum
12	chr19:40696200-40698200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr19:40696400-40697800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr19:40696400-40697800	Active TSS	Liver	Liver
15	chr19:40696400-40697800	Active TSS	Right Ventricle	heart
16	chr19:40696400-40697800	Active TSS	Stomach Smooth Muscle	stomach
17	chr19:40696400-40698000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr19:40696400-40698000	Active TSS	Brain Cingulate Gyrus	brain
19	chr19:40696400-40698000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
20	chr19:40696400-40698000	Active TSS	Duodenum Mucosa	Duodenum
21	chr19:40696400-40698000	Active TSS	Duodenum Smooth Muscle	Duodenum
22	chr19:40696400-40698000	Active TSS	Fetal Muscle Leg	muscle
23	chr19:40696400-40698000	Active TSS	Rectal Smooth Muscle	rectum
24	chr19:40696400-40698000	Active TSS	NH-A	brain
25	chr19:40696400-40698200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr19:40696400-40698200	Active TSS	iPS-20b Cell Line	embryonic stem cell
27	chr19:40696400-40698200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr19:40696400-40698200	Active TSS	Breast Myoepithelial Primary Cells	Breast
29	chr19:40696400-40698200	Active TSS	Primary T killer memory cells from peripheral blood	blood
30	chr19:40696400-40698200	Active TSS	Brain Inferior Temporal Lobe	brain
31	chr19:40696400-40698200	Active TSS	Brain Substantia Nigra	brain
32	chr19:40696400-40698200	Active TSS	Ovary	ovary
33	chr19:40696400-40698200	Active TSS	Right Atrium	heart
34	chr19:40696400-40698200	Active TSS	HepG2	liver
35	chr19:40696400-40698200	Active TSS	NHDF-Ad	bronchial
36	chr19:40696400-40698400	Active TSS	Rectal Mucosa Donor 31	rectum
37	chr19:40696400-40698400	Active TSS	K562	blood
38	chr19:40696400-40698600	Active TSS	Colon Smooth Muscle	Colon
39	chr19:40696400-40698600	Active TSS	HSMMtube	muscle
40	chr19:40696400-40698800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr19:40696400-40698800	Active TSS	HSMM	muscle
42	chr19:40696600-40698000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr19:40696600-40698000	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr19:40696600-40698000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
45	chr19:40696600-40698000	Active TSS	Esophagus	oesophagus
46	chr19:40696600-40698000	Active TSS	Fetal Kidney	kidney
47	chr19:40696600-40698000	Active TSS	Lung	lung
48	chr19:40696600-40698000	Active TSS	Pancreas	Pancrea
49	chr19:40696600-40698000	Active TSS	Sigmoid Colon	Sigmoid Colon
50	chr19:40696600-40698000	Active TSS	Skeletal Muscle Male	skeletal muscle

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