Variant report

Variant	rs2457787
Chromosome Location	chr19:22034761-22034762
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:21950144..21952867-chr19:22033592..22036117,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000197020	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs1543048	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16998391	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16998411	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16998413	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2244041	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2359707	1.00[ASN][1000 genomes]
rs2435001	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2435002	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2435004	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2435005	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2435007	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2435009	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2435040	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2435045	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2435046	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2457772	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2457783	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2457786	0.83[EUR][1000 genomes]
rs2457789	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2457790	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2457791	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2457793	0.98[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2457795	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2457799	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6511296	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3441368	chr19:21781459-22182822	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	esv3339694	chr19:21781479-22182792	Enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv1063115	chr19:21782104-22528039	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
4	nsv911424	chr19:21798441-22471156	Strong transcription Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
5	nsv911425	chr19:21841379-22338142	Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
6	nsv833784	chr19:21902647-22037153	ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv1059079	chr19:21940891-22083420	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
8	esv3395280	chr19:21968753-22202288	Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv911428	chr19:21986292-22106951	Strong transcription ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv911429	chr19:21986292-22110219	Active TSS ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv911430	chr19:22008229-22106951	ZNF genes & repeats Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv1062497	chr19:22013911-22102714	Genic enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	nsv543949	chr19:22013911-22102714	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	nsv917200	chr19:22020157-22101914	Flanking Active TSS Strong transcription Active TSS Enhancers ZNF genes & repeats Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
15	nsv911431	chr19:22026279-22106951	Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
16	nsv911432	chr19:22026279-22110219	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
17	esv3584735	chr19:22031685-22108201	Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:22032600-22034800	Transcr. at gene 5' and 3'	Dnd41	blood
2	chr19:22033400-22034800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr19:22033400-22035000	Active TSS	Brain Angular Gyrus	brain
4	chr19:22033400-22035000	Active TSS	Rectal Smooth Muscle	rectum
5	chr19:22033400-22035200	Active TSS	Brain Cingulate Gyrus	brain
6	chr19:22033600-22035000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr19:22033600-22035000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr19:22033600-22035200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr19:22033600-22035200	Active TSS	Duodenum Mucosa	Duodenum
10	chr19:22033600-22035200	Active TSS	Fetal Intestine Small	intestine
11	chr19:22033600-22035200	Active TSS	NHDF-Ad	bronchial
12	chr19:22033600-22035400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr19:22033600-22035400	Active TSS	Muscle Satellite Cultured Cells	--
14	chr19:22033600-22035400	Active TSS	NHLF	lung
15	chr19:22033600-22035400	Active TSS	Osteobl	bone
16	chr19:22033800-22035000	Active TSS	iPS-18 Cell Line	embryonic stem cell
17	chr19:22033800-22035000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr19:22033800-22035000	Active TSS	Lung	lung
19	chr19:22033800-22035200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr19:22033800-22035200	Active TSS	Pancreatic Islets	Pancreatic Islet
21	chr19:22033800-22035200	Active TSS	Psoas Muscle	Psoas
22	chr19:22033800-22035200	ZNF genes & repeats	GM12878-XiMat	blood
23	chr19:22033800-22035400	Active TSS	ES-I3 Cell Line	embryonic stem cell
24	chr19:22033800-22035400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr19:22033800-22035400	Active TSS	iPS-20b Cell Line	embryonic stem cell
26	chr19:22033800-22035400	Flanking Active TSS	Primary hematopoietic stem cells	blood
27	chr19:22033800-22035400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr19:22033800-22035400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr19:22033800-22035400	Active TSS	Stomach Smooth Muscle	stomach
30	chr19:22033800-22035400	Active TSS	K562	blood
31	chr19:22033800-22035600	Active TSS	Brain Hippocampus Middle	brain
32	chr19:22034000-22034800	Active TSS	Small Intestine	intestine
33	chr19:22034000-22035000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr19:22034000-22035000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr19:22034000-22035000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr19:22034000-22035000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr19:22034000-22035000	Active TSS	HUES48 Cell Line	embryonic stem cell
38	chr19:22034000-22035000	Active TSS	HUES6 Cell Line	embryonic stem cell
39	chr19:22034000-22035000	Active TSS	HUES64 Cell Line	embryonic stem cell
40	chr19:22034000-22035000	Active TSS	iPS-15b Cell Line	embryonic stem cell
41	chr19:22034000-22035000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr19:22034000-22035000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
43	chr19:22034000-22035000	Active TSS	Breast Myoepithelial Primary Cells	Breast
44	chr19:22034000-22035000	Active TSS	Primary T cells from cord blood	blood
45	chr19:22034000-22035000	Active TSS	Primary hematopoietic stem cells short term culture	blood
46	chr19:22034000-22035000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
47	chr19:22034000-22035000	Active TSS	Primary T killer memory cells from peripheral blood	blood
48	chr19:22034000-22035000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr19:22034000-22035000	Active TSS	Colon Smooth Muscle	Colon
50	chr19:22034000-22035000	Active TSS	Fetal Adrenal Gland	Adrenal Gland

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