Variant report

Variant	rs7255763
Chromosome Location	chr19:42055744-42055745
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	NFYB	chr19:42055707-42055856	GM12878	blood:	n/a	n/a
2	TBP	chr19:42055447-42056119	GM12878	blood:	n/a	n/a
3	PML	chr19:42055550-42056153	GM12878	blood:	n/a	n/a
4	POLR2A	chr19:42055207-42060787	GM12891	blood:	n/a	n/a
5	ZNF384	chr19:42055317-42055957	K562	blood:	n/a	n/a
6	MEF2A	chr19:42055603-42056236	GM12878	blood:	n/a	n/a
7	POLR2A	chr19:42055424-42056276	GM12892	blood:	n/a	n/a
8	JUN	chr19:42055407-42056054	HUVEC	blood vessel:	n/a	chr19:42055954-42055963 chr19:42055899-42055910
9	POLR2A	chr19:42055521-42056148	GM18951	blood:	n/a	n/a
10	MAZ	chr19:42055473-42056085	GM12878	blood:	n/a	n/a
11	TAF1	chr19:42055727-42056009	GM12892	blood:	n/a	n/a
12	NFATC1	chr19:42055629-42056184	GM12878	blood:	n/a	n/a
13	POLR2A	chr19:42055210-42056151	HUVEC	blood vessel:	n/a	n/a
14	KAP1	chr19:42055140-42056021	HEK293	kidney:	n/a	n/a
15	POLR2A	chr19:42055522-42056090	GM19193	blood:	n/a	n/a
16	NFIC	chr19:42055209-42056216	GM12878	blood:	n/a	n/a
17	BCLAF1	chr19:42055316-42056221	GM12878	blood:	n/a	n/a
18	MTA3	chr19:42055523-42056153	GM12878	blood:	n/a	n/a
19	POU2F2	chr19:42055683-42056056	GM12891	blood:	n/a	n/a
20	RUNX3	chr19:42055461-42056102	GM12878	blood:	n/a	n/a
21	POLR2A	chr19:42055386-42056083	GM12891	blood:	n/a	n/a
22	WRNIP1	chr19:42055181-42056196	GM12878	blood:	n/a	n/a
23	POLR2A	chr19:42055323-42056209	HUVEC	blood vessel:	n/a	n/a
24	POLR2A	chr19:42055353-42056210	GM19099	blood:	n/a	n/a
25	EP300	chr19:42055527-42056017	GM12878	blood:	n/a	chr19:42055681-42055697
26	RELA	chr19:42055203-42056140	GM15510	blood:	n/a	n/a
27	POLR2A	chr19:42055566-42056230	GM12878	blood:	n/a	n/a
28	PBX3	chr19:42055676-42055923	GM12878	blood:	n/a	n/a
29	POLR2A	chr19:42055675-42056119	GM12891	blood:	n/a	n/a
30	POLR2A	chr19:42055522-42056248	GM12878	blood:	n/a	n/a
31	POLR2A	chr19:42055463-42056675	GM12878	blood:	n/a	n/a
32	POLR2A	chr19:42055429-42056145	GM15510	blood:	n/a	n/a
33	MTA3	chr19:42055096-42056530	GM12878	blood:	n/a	n/a
34	SIN3A	chr19:42055622-42055939	GM12878	blood:	n/a	n/a
35	ATF2	chr19:42055362-42056183	GM12878	blood:	n/a	n/a
36	POLR2A	chr19:42055419-42056215	GM12892	blood:	n/a	n/a
37	STAT3	chr19:42055461-42056141	GM12878	blood:	n/a	n/a
38	POLR2A	chr19:42055625-42056176	GM12892	blood:	n/a	n/a
39	TAF1	chr19:42055694-42056027	GM12891	blood:	n/a	n/a
40	POLR2A	chr19:42055579-42056215	GM12878	blood:	n/a	n/a
41	MXI1	chr19:42055450-42056097	GM12878	blood:	n/a	n/a
42	FOS	chr19:42054949-42055948	HUVEC	blood vessel:	n/a	chr19:42055899-42055910
43	TEAD4	chr19:42055200-42055757	K562	blood:	n/a	n/a
44	FOXM1	chr19:42055584-42056129	GM12878	blood:	n/a	n/a
45	POLR2A	chr19:42055463-42056104	Raji	blood:	n/a	n/a
46	POLR2A	chr19:42055496-42056275	GM12892	blood:	n/a	n/a
47	TAF1	chr19:42055643-42056101	GM12878	blood:	n/a	n/a
48	SP1	chr19:42055639-42056030	GM12878	blood:	n/a	chr19:42055839-42055848 chr19:42055838-42055847 chr19:42055838-42055847 chr19:42055838-42055848
49	TAF1	chr19:42055690-42056028	GM12891	blood:	n/a	n/a
50	ZNF384	chr19:42055398-42056188	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000268027	TF binding region
CEACAM21	TF binding region

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs11881771	1.00[EUR][1000 genomes]
rs16975329	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs16975336	1.00[CEU][hapmap];0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs16975348	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs62119364	0.89[EUR][1000 genomes]
rs62119366	0.89[EUR][1000 genomes]
rs62119367	0.89[EUR][1000 genomes]
rs62119368	0.89[EUR][1000 genomes]
rs62119370	0.89[EUR][1000 genomes]
rs62119371	0.89[EUR][1000 genomes]
rs62119372	0.89[EUR][1000 genomes]
rs62119373	0.89[EUR][1000 genomes]
rs62119374	0.89[EUR][1000 genomes]
rs62119376	0.89[EUR][1000 genomes]
rs62119408	0.89[EUR][1000 genomes]
rs62119409	0.89[EUR][1000 genomes]
rs62119410	0.89[EUR][1000 genomes]
rs62119416	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62119418	0.89[EUR][1000 genomes]
rs62119419	1.00[EUR][1000 genomes]
rs62119420	1.00[EUR][1000 genomes]
rs62119421	1.00[EUR][1000 genomes]
rs62119449	1.00[EUR][1000 genomes]
rs62119450	1.00[EUR][1000 genomes]
rs62119452	0.87[EUR][1000 genomes]
rs7246864	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7255775	1.00[CEU][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7260464	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs9749229	1.00[CEU][hapmap];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv911770	chr19:41962486-42066279	Active TSS Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv911771	chr19:41962486-42085873	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv1055515	chr19:41968797-42057334	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv911772	chr19:41985624-42066279	Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv911773	chr19:42001210-42085873	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	nsv978751	chr19:42036596-42073874	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42051400-42055800	Enhancers	Primary hematopoietic stem cells	blood
2	chr19:42053200-42056000	Weak transcription	Placenta	Placenta
3	chr19:42053200-42058200	Weak transcription	Lung	lung
4	chr19:42054200-42056400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
5	chr19:42054400-42056400	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr19:42054600-42055800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
7	chr19:42054600-42055800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
8	chr19:42054600-42055800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
9	chr19:42054600-42056000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr19:42054600-42056000	Enhancers	Fetal Intestine Small	intestine
11	chr19:42055000-42055800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
12	chr19:42055000-42055800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
13	chr19:42055000-42056200	Enhancers	Primary neutrophils fromperipheralblood	blood
14	chr19:42055000-42056800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
15	chr19:42055000-42059200	Flanking Active TSS	Primary B cells from cord blood	blood
16	chr19:42055200-42055800	Active TSS	H1 Cell Line	embryonic stem cell
17	chr19:42055200-42055800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr19:42055200-42055800	Enhancers	H9 Cell Line	embryonic stem cell
19	chr19:42055200-42055800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr19:42055200-42055800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr19:42055200-42055800	Flanking Active TSS	Primary T cells from cord blood	blood
22	chr19:42055200-42055800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
23	chr19:42055200-42055800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
24	chr19:42055200-42055800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr19:42055200-42055800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
26	chr19:42055200-42055800	Enhancers	Fetal Lung	lung
27	chr19:42055200-42055800	Enhancers	Right Ventricle	heart
28	chr19:42055200-42055800	Flanking Active TSS	GM12878-XiMat	blood
29	chr19:42055200-42056000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
30	chr19:42055200-42056000	Bivalent Enhancer	HepG2	liver
31	chr19:42055200-42056200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr19:42055200-42056200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr19:42055200-42056200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
34	chr19:42055200-42056400	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr19:42055200-42056400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
36	chr19:42055200-42056400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
37	chr19:42055200-42056600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
38	chr19:42055200-42056800	Flanking Active TSS	HUVEC	blood vessel
39	chr19:42055200-42057200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
40	chr19:42055200-42058400	Active TSS	Rectal Smooth Muscle	rectum
41	chr19:42055200-42059200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr19:42055400-42055800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
43	chr19:42055400-42055800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr19:42055400-42055800	Bivalent Enhancer	Fetal Muscle Leg	muscle
45	chr19:42055400-42056000	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
46	chr19:42055400-42056000	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr19:42055400-42056000	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
48	chr19:42055400-42056200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
49	chr19:42055400-42056200	Flanking Active TSS	Fetal Thymus	thymus
50	chr19:42055400-42056400	Flanking Active TSS	Thymus	Thymus

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