Variant report

Variant	rs11880881
Chromosome Location	chr19:19432222-19432223
allele	A/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	ZNF263	chr19:19430998-19432257	HEK293-T-REx	kidney:	n/a	chr19:19431966-19431975
2	SIN3AK20	chr19:19432099-19432435	K562	blood:	n/a	n/a
3	POLR2A	chr19:19430802-19432434	GM12892	blood:	n/a	n/a
4	ZBTB7A	chr19:19431856-19432583	ECC-1	luminal epithelium:	n/a	chr19:19432047-19432056
5	YY1	chr19:19430901-19432342	GM12892	blood:	n/a	chr19:19431664-19431676 chr19:19431658-19431678
6	CTCF	chr19:19432200-19432350	GM12873	blood:	n/a	n/a
7	CTCF	chr19:19432180-19432330	HL-60	blood:	n/a	n/a
8	CTCF	chr19:19432214-19432322	HepG2	liver:	n/a	n/a
9	CREB1	chr19:19430978-19432412	HepG2	liver:	n/a	n/a
10	CTCF	chr19:19432140-19432290	SK-N-SH_RA	brain:	n/a	n/a
11	YY1	chr19:19430801-19432315	HepG2	liver:	n/a	chr19:19431664-19431676 chr19:19431658-19431678
12	POLR2A	chr19:19432055-19432490	K562	blood:	n/a	n/a
13	TBP	chr19:19430715-19432371	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr19:19430901-19432364	MCF-7	breast:	n/a	n/a
15	SIN3AK20	chr19:19430587-19432532	MCF-7	breast:	n/a	n/a
16	POLR2A	chr19:19431026-19432292	MCF10A-Er-Src	breast:	n/a	n/a
17	ZBTB7A	chr19:19431842-19432608	ECC-1	luminal epithelium:	n/a	chr19:19432047-19432056
18	SREBP1	chr19:19430781-19432500	GM12878	blood:	n/a	n/a
19	CTCF	chr19:19432160-19432310	HRPEpiC	eye:	n/a	n/a
20	MAX	chr19:19431138-19432324	NB4	blood:	n/a	chr19:19432140-19432149 chr19:19431255-19431265
21	POLR2A	chr19:19431035-19432319	GM18505	blood:	n/a	n/a
22	POLR2A	chr19:19432154-19432501	MCF10A-Er-Src	breast:	n/a	n/a
23	MYC	chr19:19432210-19432396	K562	blood:	n/a	n/a
24	CTCF	chr19:19432200-19432350	GM12865	blood:	n/a	n/a
25	HEY1	chr19:19432050-19432312	HepG2	liver:	n/a	n/a
26	UBTF	chr19:19431017-19432297	K562	blood:	n/a	n/a
27	ELF1	chr19:19430967-19432329	GM12878	blood:	n/a	chr19:19432082-19432094 chr19:19431635-19431647 chr19:19431032-19431044
28	HCFC1	chr19:19430800-19432741	Hela-S3	cervix:	n/a	n/a
29	CTCF	chr19:19432160-19432310	AG09309	skin:	n/a	n/a
30	CEBPB	chr19:19432200-19432342	HepG2	liver:	n/a	n/a
31	CTCF	chr19:19432200-19432350	AG10803	skin:	n/a	n/a
32	YY1	chr19:19430978-19432431	K562	blood:	n/a	chr19:19431664-19431676 chr19:19431658-19431678
33	CTCF	chr19:19432220-19432370	HFF	foreskin:	n/a	n/a
34	ZBTB7A	chr19:19431778-19432599	K562	blood:	n/a	chr19:19432047-19432056
35	POLR2A	chr19:19430717-19432348	H1-hESC	embryonic stem cell:	n/a	n/a
36	MAZ	chr19:19430950-19432222	K562	blood:	n/a	chr19:19432140-19432149 chr19:19431255-19431265
37	POLR2A	chr19:19430988-19432259	Raji	blood:	n/a	n/a
38	HEY1	chr19:19432022-19432334	K562	blood:	n/a	n/a
39	CTCF	chr19:19432200-19432350	Hela-S3	cervix:	n/a	n/a
40	RCOR1	chr19:19432144-19432374	K562	blood:	n/a	n/a
41	JUND	chr19:19432163-19432331	K562	blood:	n/a	n/a
42	POLR2A	chr19:19430868-19432736	SK-N-MC	brain:	n/a	n/a
43	MTA3	chr19:19430564-19432789	GM12878	blood:	n/a	n/a
44	CTCF	chr19:19432200-19432350	SK-N-SH_RA	brain:	n/a	n/a
45	CTCF	chr19:19432040-19432310	NHLF	lung:	n/a	chr19:19432042-19432055 chr19:19432044-19432054
46	CTCF	chr19:19432200-19432350	HEK293	kidney:	n/a	n/a
47	TAF1	chr19:19430673-19432473	H1-hESC	embryonic stem cell:	n/a	n/a
48	MXI1	chr19:19431225-19432324	H1-hESC	embryonic stem cell:	n/a	n/a
49	CTCF	chr19:19432120-19432270	HMEC	breast:	n/a	n/a
50	TBL1XR1	chr19:19432066-19432236	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:19308004..19310412-chr19:19430243..19432746,2	K562	blood:
2	chr19:19413906..19419021-chr19:19429875..19434162,7	K562	blood:
3	chr19:19431656..19433279-chr19:19456145..19458493,2	K562	blood:
4	chr19:19431090..19433292-chr19:19443001..19445440,2	MCF-7	breast:
5	chr19:19431266..19434636-chr19:19448982..19451713,3	MCF-7	breast:
6	chr19:19430154..19433018-chr19:19625258..19627975,2	K562	blood:
7	chr19:11848265..11850044-chr19:19430970..19433049,2	MCF-7	breast:
8	chr19:19409469..19413871-chr19:19428728..19432308,7	K562	blood:
9	chr19:19428553..19432587-chr19:19515649..19520173,6	K562	blood:
10	chr19:19431326..19434090-chr19:19651434..19653911,2	K562	blood:
11	chr19:19430396..19433402-chr19:19454872..19458235,4	MCF-7	breast:
12	chr19:19280644..19282541-chr19:19431552..19433735,2	MCF-7	breast:
13	chr19:19431422..19432307-chr19:19453086..19453758,2	K562	blood:
14	chr19:19430075..19433378-chr19:19444857..19448772,4	K562	blood:
15	chr19:19301203..19304689-chr19:19429627..19432561,5	MCF-7	breast:
16	chr19:19304004..19306841-chr19:19429725..19433437,3	MCF-7	breast:
17	chr19:19430044..19433811-chr19:19447380..19449569,3	K562	blood:

Variant related genes	Relation type
MAU2	TF binding region
SUGP1	TF binding region
ENSG00000167491	Chromatin interaction
ENSG00000105705	Chromatin interaction
ENSG00000160161	Chromatin interaction
ENSG00000254901	Chromatin interaction
ENSG00000064490	Chromatin interaction
ENSG00000213999	Chromatin interaction
ENSG00000186010	Chromatin interaction
ENSG00000197933	Chromatin interaction
ENSG00000258674	Chromatin interaction
ENSG00000178093	Chromatin interaction
ENSG00000064489	Chromatin interaction
ENSG00000129933	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs6511025	1.00[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv911303	chr19:19256870-19505087	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv911305	chr19:19303802-19663850	Genic enhancers Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	nsv1056419	chr19:19421218-19510611	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 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	chr19:19429400-19432600	Active TSS	iPS-20b Cell Line	embryonic stem cell
2	chr19:19429600-19432600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr19:19429800-19432600	Active TSS	iPS-15b Cell Line	embryonic stem cell
4	chr19:19429800-19432800	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr19:19429800-19432800	Active TSS	HUES64 Cell Line	embryonic stem cell
6	chr19:19430000-19432600	Active TSS	H9 Cell Line	embryonic stem cell
7	chr19:19430000-19432800	Active TSS	A549	lung
8	chr19:19430200-19432400	Active TSS	HUES48 Cell Line	embryonic stem cell
9	chr19:19430200-19432600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr19:19430200-19432600	Active TSS	HSMM	muscle
11	chr19:19430200-19432800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr19:19430200-19432800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr19:19430200-19432800	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr19:19430400-19432600	Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr19:19430400-19432600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr19:19430400-19432600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
17	chr19:19430400-19432600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
18	chr19:19430400-19432600	Active TSS	Osteobl	bone
19	chr19:19430400-19432800	Active TSS	iPS-18 Cell Line	embryonic stem cell
20	chr19:19430400-19432800	Active TSS	Muscle Satellite Cultured Cells	--
21	chr19:19430400-19432800	Active TSS	NHDF-Ad	bronchial
22	chr19:19430400-19433200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr19:19430400-19433200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr19:19430400-19433600	Active TSS	GM12878-XiMat	blood
25	chr19:19430600-19432400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr19:19430600-19432400	Active TSS	Stomach Mucosa	stomach
27	chr19:19430600-19432400	Bivalent/Poised TSS	HepG2	liver
28	chr19:19430600-19432600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
29	chr19:19430600-19432800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr19:19430600-19432800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
31	chr19:19430600-19433200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr19:19430600-19433200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr19:19430800-19432400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr19:19430800-19432400	Active TSS	Breast Myoepithelial Primary Cells	Breast
35	chr19:19430800-19432400	Active TSS	Primary T helper naive cells from peripheral blood	blood
36	chr19:19430800-19432400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr19:19430800-19432400	Active TSS	Brain Anterior Caudate	brain
38	chr19:19430800-19432400	Active TSS	Brain Substantia Nigra	brain
39	chr19:19430800-19432400	Active TSS	Fetal Heart	heart
40	chr19:19430800-19432400	Active TSS	Fetal Intestine Small	intestine
41	chr19:19430800-19432400	Active TSS	Fetal Stomach	stomach
42	chr19:19430800-19432400	Active TSS	Rectal Smooth Muscle	rectum
43	chr19:19430800-19432400	Active TSS	Thymus	Thymus
44	chr19:19430800-19432400	Active TSS	Spleen	Spleen
45	chr19:19430800-19432400	Active TSS	Hela-S3	cervix
46	chr19:19430800-19432400	Active TSS	HMEC	breast
47	chr19:19430800-19432400	Active TSS	NHEK	skin
48	chr19:19430800-19432600	Active TSS	H1 Cell Line	embryonic stem cell
49	chr19:19430800-19432600	Active TSS	Aorta	Aorta
50	chr19:19430800-19432600	Active TSS	Colon Smooth Muscle	Colon

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