Variant report

Variant	rs7251006
Chromosome Location	chr19:42054435-42054436
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	MAFF	chr19:42054398-42054946	K562	blood:	n/a	n/a
2	MAFK	chr19:42054428-42054753	HepG2	liver:	n/a	n/a
3	MAFK	chr19:42054431-42054736	IMR90	lung:	n/a	n/a

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

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs55796622	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73933653	1.00[AFR][1000 genomes]
rs73933660	1.00[AFR][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:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42050600-42055000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
2	chr19:42051400-42055800	Enhancers	Primary hematopoietic stem cells	blood
3	chr19:42051800-42055400	Enhancers	Fetal Thymus	thymus
4	chr19:42052600-42054600	Weak transcription	Fetal Muscle Trunk	muscle
5	chr19:42052800-42055200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr19:42052800-42055200	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr19:42052800-42055200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr19:42053000-42054600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr19:42053000-42054600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr19:42053000-42054600	Weak transcription	Fetal Intestine Small	intestine
11	chr19:42053000-42055200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr19:42053000-42055200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr19:42053000-42055200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
14	chr19:42053000-42055200	Enhancers	GM12878-XiMat	blood
15	chr19:42053200-42054600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr19:42053200-42054600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr19:42053200-42055000	Enhancers	Primary B cells from cord blood	blood
18	chr19:42053200-42055000	Enhancers	Monocytes-CD14+_RO01746	blood
19	chr19:42053200-42055200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr19:42053200-42055200	Enhancers	Primary B cells from peripheral blood	blood
21	chr19:42053200-42055200	Enhancers	Primary T cells fromperipheralblood	blood
22	chr19:42053200-42055200	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr19:42053200-42055200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
24	chr19:42053200-42055200	Enhancers	Primary T killer memory cells from peripheral blood	blood
25	chr19:42053200-42055200	Weak transcription	Thymus	Thymus
26	chr19:42053200-42056000	Weak transcription	Placenta	Placenta
27	chr19:42053200-42058200	Weak transcription	Lung	lung
28	chr19:42053400-42055000	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr19:42053400-42055000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
30	chr19:42053400-42055200	Enhancers	Primary T helper cells fromperipheralblood	blood
31	chr19:42053400-42055200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr19:42053400-42055200	Weak transcription	Duodenum Mucosa	Duodenum
33	chr19:42053600-42054600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
34	chr19:42053600-42055200	Enhancers	Primary T cells from cord blood	blood
35	chr19:42053800-42054600	Enhancers	Spleen	Spleen
36	chr19:42053800-42054800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr19:42053800-42055200	Enhancers	HUES64 Cell Line	embryonic stem cell
38	chr19:42053800-42055200	Enhancers	HUVEC	blood vessel
39	chr19:42054200-42054600	Enhancers	Primary T helper cells PMA-I stimulated	--
40	chr19:42054200-42054600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
41	chr19:42054200-42055200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr19:42054200-42055200	Enhancers	Primary T helper naive cells from peripheral blood	blood
43	chr19:42054200-42055200	Weak transcription	Fetal Lung	lung
44	chr19:42054200-42056400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
45	chr19:42054400-42055000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
46	chr19:42054400-42056400	Enhancers	iPS-15b Cell Line	embryonic stem cell

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