Variant report

Variant	rs372580463
Chromosome Location	chr19:41194814-41194815
allele	C/G
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	chr19:41194751-41195734	H1-neurons	neurons:	n/a	n/a
2	BCL3	chr19:41194296-41195647	GM12878	blood:	n/a	n/a
3	STAT5A	chr19:41193052-41195402	K562	blood:	n/a	n/a
4	POLR2A	chr19:41193287-41197366	IMR90	lung:	n/a	n/a
5	MAZ	chr19:41194429-41197886	IMR90	lung:	n/a	chr19:41197262-41197271 chr19:41197258-41197273 chr19:41197265-41197275 chr19:41197260-41197269 chr19:41197261-41197268 chr19:41197251-41197267
6	MXI1	chr19:41192631-41197581	IMR90	lung:	n/a	chr19:41193038-41193053 chr19:41193021-41193036
7	MXI1	chr19:41193489-41197689	SK-N-SH	brain:	n/a	n/a
8	PBX3	chr19:41194601-41195405	GM12878	blood:	n/a	chr19:41195069-41195078
9	TCF12	chr19:41194749-41197918	A549	lung:	n/a	chr19:41197131-41197138
10	MAX	chr19:41194363-41197840	A549	lung:	n/a	chr19:41197262-41197271 chr19:41197258-41197273 chr19:41197265-41197275 chr19:41197260-41197269 chr19:41197261-41197268 chr19:41197251-41197267 chr19:41194393-41194403
11	POLR2A	chr19:41194391-41197325	HUVEC	blood vessel:	n/a	n/a
12	NFATC1	chr19:41194526-41195492	GM12878	blood:	n/a	n/a
13	STAT5A	chr19:41194671-41195256	GM12878	blood:	n/a	n/a
14	POLR2A	chr19:41194758-41195004	HepG2	liver:	n/a	n/a
15	CHD1	chr19:41192595-41197591	IMR90	lung:	n/a	chr19:41196943-41196953 chr19:41196593-41196603
16	STAT5A	chr19:41193198-41195366	GM12878	blood:	n/a	n/a
17	BCL3	chr19:41194463-41195376	GM12878	blood:	n/a	n/a
18	NFATC1	chr19:41194152-41195486	GM12878	blood:	n/a	n/a
19	SP1	chr19:41194749-41197510	A549	lung:	n/a	chr19:41196322-41196334 chr19:41196565-41196574 chr19:41196982-41196993 chr19:41196563-41196575 chr19:41195450-41195464 chr19:41197386-41197398 chr19:41196296-41196310 chr19:41196606-41196615 chr19:41196594-41196603 chr19:41196601-41196622 chr19:41197386-41197398 chr19:41196564-41196573 chr19:41196604-41196616 chr19:41196894-41196904 chr19:41196604-41196616 chr19:41196983-41196992 chr19:41196595-41196604 chr19:41196564-41196574 chr19:41196942-41196951 chr19:41197267-41197276 chr19:41197271-41197280 chr19:41196605-41196614 chr19:41195697-41195711 chr19:41196941-41196952 chr19:41196605-41196614 chr19:41196322-41196334 chr19:41196594-41196603 chr19:41196563-41196575 chr19:41197267-41197281 chr19:41196982-41196994 chr19:41196605-41196615 chr19:41197387-41197401 chr19:41195752-41195762
20	POLR2A	chr19:41194509-41194967	U87	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:41193561..41199772-chr19:41221208..41225709,11	K562	blood:
2	chr19:41194676..41198444-chr19:41254531..41258137,9	MCF-7	breast:
3	chr19:41193560..41201987-chr19:41206623..41212331,16	K562	blood:
4	chr19:41186952..41192144-chr19:41192156..41195982,8	MCF-7	breast:
5	chr19:41185972..41188881-chr19:41192870..41195079,2	K562	blood:
6	chr19:41193720..41198590-chr19:41218677..41224410,19	MCF-7	breast:
7	chr19:41194805..41199772-chr19:41221674..41225965,11	K562	blood:
8	chr19:41193182..41199089-chr19:41206241..41209564,9	MCF-7	breast:
9	chr19:41194241..41200533-chr19:41254244..41257966,10	K562	blood:
10	chr19:41194241..41198233-chr19:41254859..41260401,9	K562	blood:
11	chr19:41191453..41200740-chr19:41219595..41226457,20	MCF-7	breast:

Variant related genes	Relation type
NUMBL	TF binding region
ENSG00000123815	Chromatin interaction
ENSG00000077312	Chromatin interaction
ENSG00000086544	Chromatin interaction
ENSG00000188493	Chromatin interaction
ENSG00000105245	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1830682	chr19:40880127-41270055	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	139 gene(s)	inside rSNPs	diseases
2	nsv911723	chr19:41075990-41195279	Active TSS Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv911727	chr19:41111069-41200511	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv911728	chr19:41111069-41211056	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	esv1800615	chr19:41127465-41270055	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
6	nsv1058707	chr19:41146147-41200820	Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region miRNA target site	20 gene(s)	inside rSNPs	diseases
7	nsv1067017	chr19:41185992-41231251	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	36 gene(s)	inside rSNPs	diseases
8	esv3432319	chr19:41190112-41196510	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
9	esv3391681	chr19:41192212-41196610	Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
10	nsv820299	chr19:41193264-41195994	Active TSS Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:41169800-41195400	Weak transcription	Psoas Muscle	Psoas
2	chr19:41175800-41196000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr19:41176000-41195200	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr19:41176200-41195600	Weak transcription	Small Intestine	intestine
5	chr19:41179200-41195800	Weak transcription	Monocytes-CD14+_RO01746	blood
6	chr19:41179800-41196000	Weak transcription	Primary neutrophils fromperipheralblood	blood
7	chr19:41181200-41195200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr19:41187000-41195600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr19:41187200-41195200	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr19:41187200-41195800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr19:41187400-41195200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr19:41187600-41195800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr19:41188800-41195800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr19:41191800-41195600	Weak transcription	Primary hematopoietic stem cells	blood
15	chr19:41192000-41195000	Weak transcription	Fetal Intestine Large	intestine
16	chr19:41192000-41195200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr19:41192000-41195200	Weak transcription	Brain Substantia Nigra	brain
18	chr19:41192600-41195200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr19:41192600-41195200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr19:41192600-41195800	Weak transcription	Liver	Liver
21	chr19:41192600-41196000	Enhancers	Primary B cells from peripheral blood	blood
22	chr19:41192600-41196000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
23	chr19:41192800-41195000	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr19:41192800-41195000	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr19:41192800-41195200	Enhancers	Primary B cells from cord blood	blood
26	chr19:41192800-41195200	Enhancers	Sigmoid Colon	Sigmoid Colon
27	chr19:41192800-41195600	Weak transcription	Thymus	Thymus
28	chr19:41193000-41195000	Enhancers	Right Atrium	heart
29	chr19:41193200-41195000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr19:41193200-41195000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr19:41193200-41195000	Enhancers	Right Ventricle	heart
32	chr19:41193200-41195200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr19:41193200-41195200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
34	chr19:41193200-41195400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr19:41193400-41195000	Enhancers	Ovary	ovary
36	chr19:41193400-41195000	Enhancers	Hela-S3	cervix
37	chr19:41193400-41195200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr19:41193400-41195400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr19:41193400-41195400	Enhancers	Gastric	stomach
40	chr19:41193400-41196200	Flanking Active TSS	Adipose Nuclei	Adipose
41	chr19:41193400-41196200	Flanking Active TSS	K562	blood
42	chr19:41193600-41195000	Enhancers	Aorta	Aorta
43	chr19:41193600-41195000	Flanking Active TSS	HSMMtube	muscle
44	chr19:41193600-41195200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr19:41193600-41195200	Flanking Active TSS	Brain Germinal Matrix	brain
46	chr19:41193600-41195400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr19:41193600-41195400	Flanking Active TSS	NHDF-Ad	bronchial
48	chr19:41193600-41195400	Flanking Active TSS	Osteobl	bone
49	chr19:41193600-41195600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr19:41193600-41195600	Flanking Active TSS	Fetal Brain Male	brain

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