Variant report

Variant	rs874013
Chromosome Location	chr19:42775405-42775406
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:42774007..42775893-chr19:42829806..42832465,2	K562	blood:
2	chr19:42773801..42775756-chr19:42804416..42807088,2	K562	blood:
3	chr12:120729494..120731830-chr19:42774117..42775700,2	MCF-7	breast:
4	chr19:42747132..42763787-chr19:42768368..42776785,67	MCF-7	breast:

Variant related genes	Relation type
ENSG00000105722	Chromatin interaction
ENSG00000105429	Chromatin interaction
ENSG00000079462	Chromatin interaction
ENSG00000202538	Chromatin interaction
ENSG00000188368	Chromatin interaction
ENSG00000200795	Chromatin interaction
ENSG00000268643	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1055512	1.00[EUR][1000 genomes]
rs1205964	1.00[EUR][1000 genomes]
rs1685562	1.00[EUR][1000 genomes]
rs35272495	1.00[EUR][1000 genomes]
rs61733017	1.00[EUR][1000 genomes]
rs7254956	1.00[EUR][1000 genomes]
rs73552843	1.00[EUR][1000 genomes]
rs73552847	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522854	chr19:42120283-42931004	Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
2	nsv520239	chr19:42357455-42931004	Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
3	esv1805469	chr19:42367635-42798851	Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
4	nsv911782	chr19:42514712-42931004	Bivalent/Poised TSS Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
5	esv1794508	chr19:42580026-42791462	Strong transcription Active TSS Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
6	nsv1055554	chr19:42619671-42821642	Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	53 gene(s)	inside rSNPs	diseases
7	nsv833833	chr19:42657276-42783122	Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
8	nsv526186	chr19:42676481-43203507	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	62 gene(s)	inside rSNPs	diseases
9	esv2422471	chr19:42733141-43669485	Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Strong transcription 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 miRNA	70 gene(s)	inside rSNPs	diseases
10	nsv833834	chr19:42736444-42835027	Genic enhancers Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	42 gene(s)	inside rSNPs	diseases
11	nsv911784	chr19:42741124-42787664	Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	36 gene(s)	inside rSNPs	diseases
12	nsv911785	chr19:42741124-42917545	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	46 gene(s)	inside rSNPs	diseases
13	nsv911786	chr19:42744234-42797959	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	39 gene(s)	inside rSNPs	diseases
14	esv1802977	chr19:42754437-42789945	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	31 gene(s)	inside rSNPs	diseases
15	esv1801251	chr19:42768288-42788467	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
16	esv1803455	chr19:42768288-42788467	Flanking Active TSS Active TSS Genic enhancers Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
17	esv1803706	chr19:42768288-42788467	Genic enhancers Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
18	esv1801291	chr19:42772432-42788467	Flanking Active TSS Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
19	esv1801294	chr19:42772432-42788467	Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Weak 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	21 gene(s)	inside rSNPs	diseases
20	esv1801914	chr19:42772432-42788467	Active TSS Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
21	nsv911787	chr19:42773862-42795554	Active TSS Genic enhancers Flanking Active TSS Enhancers Strong transcription Weak 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	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:42773600-42775600	Flanking Active TSS	Primary B cells from cord blood	blood
2	chr19:42773600-42775800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr19:42773600-42776000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr19:42773800-42775600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
5	chr19:42773800-42775600	Flanking Active TSS	Primary hematopoietic stem cells	blood
6	chr19:42773800-42775600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
7	chr19:42773800-42775600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
8	chr19:42773800-42775600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
9	chr19:42773800-42775600	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr19:42773800-42775600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
11	chr19:42773800-42775600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr19:42773800-42775600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr19:42773800-42775600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr19:42773800-42775600	Flanking Active TSS	Adipose Nuclei	Adipose
15	chr19:42773800-42775600	Flanking Active TSS	Brain Cingulate Gyrus	brain
16	chr19:42773800-42775600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
17	chr19:42773800-42775600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
18	chr19:42773800-42775600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
19	chr19:42773800-42775600	Flanking Active TSS	Rectal Smooth Muscle	rectum
20	chr19:42773800-42775600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
21	chr19:42773800-42775800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
22	chr19:42773800-42775800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
23	chr19:42774000-42775600	Flanking Active TSS	Primary T cells from cord blood	blood
24	chr19:42774000-42775600	Flanking Active TSS	Colonic Mucosa	Colon
25	chr19:42774000-42775600	Flanking Active TSS	HMEC	breast
26	chr19:42774000-42775800	Flanking Active TSS	Duodenum Mucosa	Duodenum
27	chr19:42774000-42775800	Flanking Active TSS	GM12878-XiMat	blood
28	chr19:42774000-42776000	Flanking Active TSS	Stomach Smooth Muscle	stomach
29	chr19:42774000-42776800	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr19:42774200-42775600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
31	chr19:42774200-42775600	Flanking Active TSS	NHDF-Ad	bronchial
32	chr19:42774200-42775800	Enhancers	H1 Cell Line	embryonic stem cell
33	chr19:42774200-42775800	Enhancers	Spleen	Spleen
34	chr19:42774200-42776000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
35	chr19:42774200-42776000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr19:42774200-42776200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr19:42774200-42778400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr19:42774400-42775600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
39	chr19:42774400-42775800	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr19:42774400-42776000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
41	chr19:42774400-42776200	Weak transcription	Ovary	ovary
42	chr19:42774400-42783600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr19:42774600-42775600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr19:42774600-42775600	Enhancers	Sigmoid Colon	Sigmoid Colon
45	chr19:42774600-42775800	Enhancers	Fetal Heart	heart
46	chr19:42774600-42777400	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr19:42774800-42775600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr19:42774800-42775600	Flanking Active TSS	HepG2	liver
49	chr19:42774800-42776000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
50	chr19:42774800-42777200	Weak transcription	iPS-18 Cell Line	embryonic stem cell

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