Variant report

Variant	rs8111966
Chromosome Location	chr19:45596073-45596074
allele	A/C
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	GABPA	chr19:45595935-45596608	K562	blood:	n/a	chr19:45596149-45596163 chr19:45596146-45596160 chr19:45596395-45596404 chr19:45596393-45596402 chr19:45596151-45596160
2	YY1	chr19:45595881-45596754	K562	blood:	n/a	chr19:45596571-45596580 chr19:45596568-45596582 chr19:45596481-45596492 chr19:45596408-45596417
3	GABPA	chr19:45595959-45596489	H1-hESC	embryonic stem cell:	n/a	chr19:45596149-45596163 chr19:45596146-45596160 chr19:45596395-45596404 chr19:45596393-45596402 chr19:45596151-45596160
4	FOS	chr19:45596000-45596220	MCF10A-Er-Src	breast:	n/a	n/a
5	POLR2A	chr19:45595695-45596584	Hela-S3	cervix:	n/a	n/a
6	JUND	chr19:45595899-45596750	A549	lung:	n/a	n/a
7	CTCF	chr19:45596000-45596150	HCPEpiC	choroid plexus:	n/a	n/a
8	CTCF	chr19:45595980-45596130	GM12869	blood:	n/a	n/a
9	TCF12	chr19:45595761-45596756	ECC-1	luminal epithelium:	n/a	n/a
10	POLR2A	chr19:45595903-45596683	K562	blood:	n/a	n/a
11	POLR2A	chr19:45595908-45596609	HCT-116	colon:	n/a	n/a
12	MXI1	chr19:45595918-45596859	GM12878	blood:	n/a	n/a
13	PAX5	chr19:45595932-45596547	GM12878	blood:	n/a	chr19:45596051-45596060
14	HEY1	chr19:45595860-45596683	HepG2	liver:	n/a	chr19:45596478-45596493 chr19:45596404-45596419 chr19:45596390-45596405
15	FOXM1	chr19:45595826-45596508	ECC-1	luminal epithelium:	n/a	n/a
16	POLR2A	chr19:45595884-45596333	ProgFib	skin:	n/a	n/a
17	YY1	chr19:45595862-45596638	H1-hESC	embryonic stem cell:	n/a	chr19:45596571-45596580 chr19:45596568-45596582 chr19:45596481-45596492 chr19:45596408-45596417
18	YY1	chr19:45595888-45596527	SK-N-SH	brain:	n/a	chr19:45596481-45596492 chr19:45596408-45596417
19	POLR2A	chr19:45595534-45596827	HepG2	liver:	n/a	n/a
20	POLR2A	chr19:45593947-45597083	H1-hESC	embryonic stem cell:	n/a	n/a
21	MXI1	chr19:45595914-45596824	HepG2	liver:	n/a	n/a
22	EGR1	chr19:45595987-45596468	ECC-1	luminal epithelium:	n/a	chr19:45596150-45596159
23	MAX	chr19:45596019-45596480	HepG2	liver:	n/a	n/a
24	TAF1	chr19:45595677-45596965	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr19:45595810-45596664	K562	blood:	n/a	n/a
26	PBX3	chr19:45595889-45596612	A549	lung:	n/a	n/a
27	GTF3C2	chr19:45594964-45596224	Hela-S3	cervix:	n/a	n/a
28	E2F6	chr19:45595859-45596609	K562	blood:	n/a	chr19:45596572-45596582 chr19:45596150-45596159
29	TAF1	chr19:45595998-45596649	MCF-7	breast:	n/a	n/a
30	ELF1	chr19:45595957-45596451	A549	lung:	n/a	chr19:45596428-45596437 chr19:45596408-45596417
31	TAF1	chr19:45595865-45596530	K562	blood:	n/a	n/a
32	POLR2A	chr19:45595714-45597014	H1-neurons	neurons:	n/a	n/a
33	ATF2	chr19:45595872-45596469	H1-hESC	embryonic stem cell:	n/a	n/a
34	STAT3	chr19:45596054-45596383	GM12878	blood:	n/a	n/a
35	TAF1	chr19:45595893-45596648	GM12878	blood:	n/a	n/a
36	TCF7L2	chr19:45595906-45596621	Hela-S3	cervix:	n/a	n/a
37	MXI1	chr19:45595937-45596556	K562	blood:	n/a	n/a
38	STAT1	chr19:45595996-45596467	GM12878	blood:	n/a	n/a
39	POLR2A	chr19:45595724-45596760	K562	blood:	n/a	n/a
40	CREB1	chr19:45595826-45596632	GM12878	blood:	n/a	n/a
41	POLR2A	chr19:45595763-45596656	MCF10A-Er-Src	breast:	n/a	n/a
42	E2F4	chr19:45595862-45596597	K562	blood:	n/a	chr19:45596572-45596582 chr19:45596150-45596159
43	ETS1	chr19:45595702-45596824	K562	blood:	n/a	chr19:45596569-45596580 chr19:45596481-45596492
44	MAX	chr19:45595974-45596556	K562	blood:	n/a	n/a
45	POLR2A	chr19:45595681-45596773	U87	brain:	n/a	n/a
46	GABPA	chr19:45595841-45596569	MCF-7	breast:	n/a	chr19:45596149-45596163 chr19:45596146-45596160 chr19:45596395-45596404 chr19:45596393-45596402 chr19:45596151-45596160
47	GABPA	chr19:45595944-45596577	SK-N-SH	brain:	n/a	chr19:45596149-45596163 chr19:45596146-45596160 chr19:45596395-45596404 chr19:45596393-45596402 chr19:45596151-45596160
48	MAZ	chr19:45596007-45596538	HepG2	liver:	n/a	n/a
49	MYC	chr19:45596040-45596196	MCF-7	breast:	n/a	n/a
50	POLR2A	chr19:45595805-45596749	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:45571923..45576077-chr19:45594481..45600071,10	MCF-7	breast:
2	chr19:45542175..45544773-chr19:45593754..45596386,2	MCF-7	breast:
3	chr19:45394111..45396115-chr19:45593226..45596136,2	MCF-7	breast:
4	chr19:45594755..45598539-chr19:45681810..45685400,4	K562	blood:
5	chr19:45594874..45597676-chr19:45681810..45683655,2	K562	blood:
6	chr19:45250268..45252334-chr19:45593239..45597540,3	MCF-7	breast:
7	chr19:45577259..45585589-chr19:45592358..45603656,27	K562	blood:
8	chr19:45595033..45597870-chr19:45646652..45650476,4	MCF-7	breast:
9	chr19:45576493..45586900-chr19:45588536..45604492,49	MCF-7	breast:
10	chr19:45576986..45585099-chr19:45592126..45598719,16	MCF-7	breast:
11	chr19:45580763..45587822-chr19:45593153..45598212,14	K562	blood:
12	chr19:45503629..45506931-chr19:45593767..45597738,4	K562	blood:
13	chr19:45542295..45544069-chr19:45594724..45597616,3	MCF-7	breast:
14	chr19:45594586..45596499-chr19:45682181..45685187,4	MCF-7	breast:
15	chr19:45594892..45596535-chr19:45681783..45683354,2	MCF-7	breast:
16	chr19:45594891..45596500-chr19:45754008..45755786,2	MCF-7	breast:
17	chr19:45570935..45574142-chr19:45593620..45597765,5	MCF-7	breast:
18	chr19:45503630..45506563-chr19:45593514..45596516,3	MCF-7	breast:
19	chr19:45593518..45596472-chr19:45847951..45849641,2	MCF-7	breast:

Variant related genes	Relation type
PPP1R37	TF binding region
ENSG00000267348	TF binding region
ENSG00000130204	Chromatin interaction
ENSG00000267282	Chromatin interaction
ENSG00000142252	Chromatin interaction
ENSG00000189114	Chromatin interaction
ENSG00000170684	Chromatin interaction
ENSG00000104866	Chromatin interaction
ENSG00000267545	Chromatin interaction
ENSG00000104892	Chromatin interaction
ENSG00000104859	Chromatin interaction
ENSG00000069399	Chromatin interaction
ENSG00000104856	Chromatin interaction
ENSG00000007047	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs10425938	0.83[AMR][1000 genomes]
rs7259404	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3449420	chr19:45523560-45626884	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv912142	chr19:45570051-45708758	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv833842	chr19:45593888-45684308	Bivalent Enhancer Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv833843	chr19:45593888-45793682	Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv828563	chr19:45594591-45598168	Flanking Active TSS Genic enhancers Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 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	chr19:45594000-45598200	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr19:45594200-45597200	Active TSS	iPS-20b Cell Line	embryonic stem cell
3	chr19:45594200-45597200	Active TSS	Fetal Kidney	kidney
4	chr19:45594200-45597400	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr19:45594200-45597800	Active TSS	HUES48 Cell Line	embryonic stem cell
6	chr19:45594200-45598200	Active TSS	iPS-18 Cell Line	embryonic stem cell
7	chr19:45594400-45596200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
8	chr19:45594400-45597000	Active TSS	Brain Angular Gyrus	brain
9	chr19:45594400-45597000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
10	chr19:45594400-45597000	Active TSS	Hela-S3	cervix
11	chr19:45594400-45597200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
12	chr19:45594400-45597200	Active TSS	Ovary	ovary
13	chr19:45594400-45597400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr19:45594400-45598200	Active TSS	HUES64 Cell Line	embryonic stem cell
15	chr19:45594400-45599200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
16	chr19:45594600-45596800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
17	chr19:45594600-45596800	Active TSS	Brain Inferior Temporal Lobe	brain
18	chr19:45594600-45597000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr19:45594600-45597000	Active TSS	H9 Cell Line	embryonic stem cell
20	chr19:45594600-45597000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr19:45594600-45597000	Active TSS	Breast Myoepithelial Primary Cells	Breast
22	chr19:45594600-45597000	Active TSS	Brain Germinal Matrix	brain
23	chr19:45594600-45597000	Active TSS	Colon Smooth Muscle	Colon
24	chr19:45594600-45597000	Active TSS	Duodenum Mucosa	Duodenum
25	chr19:45594600-45597000	Active TSS	Duodenum Smooth Muscle	Duodenum
26	chr19:45594600-45597000	Active TSS	Esophagus	oesophagus
27	chr19:45594600-45597000	Active TSS	Fetal Brain Male	brain
28	chr19:45594600-45597000	Active TSS	Fetal Brain Female	brain
29	chr19:45594600-45597000	Active TSS	Fetal Heart	heart
30	chr19:45594600-45597000	Active TSS	Fetal Lung	lung
31	chr19:45594600-45597000	Active TSS	Fetal Stomach	stomach
32	chr19:45594600-45597000	Active TSS	Lung	lung
33	chr19:45594600-45597000	Active TSS	Pancreas	Pancrea
34	chr19:45594600-45597000	Active TSS	Placenta Amnion	Placenta Amnion
35	chr19:45594600-45597000	Active TSS	Psoas Muscle	Psoas
36	chr19:45594600-45597000	Active TSS	Rectal Smooth Muscle	rectum
37	chr19:45594600-45597000	Active TSS	Stomach Mucosa	stomach
38	chr19:45594600-45597200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr19:45594600-45597200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr19:45594600-45597200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr19:45594600-45597200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr19:45594600-45597200	Active TSS	Aorta	Aorta
43	chr19:45594600-45597400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr19:45594600-45597600	Active TSS	A549	lung
45	chr19:45594600-45597600	Active TSS	NHDF-Ad	bronchial
46	chr19:45594800-45596200	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
47	chr19:45594800-45596200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
48	chr19:45594800-45596400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
49	chr19:45594800-45596400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr19:45594800-45596800	Active TSS	Primary hematopoietic stem cells	blood

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