Variant report

Variant	rs73581131
Chromosome Location	chr19:52875445-52875446
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	chr19:52875265..52876916-chr19:52889763..52892567,2	MCF-7	breast:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs162117	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs162126	0.83[EUR][1000 genomes]
rs162127	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs182751	0.92[EUR][1000 genomes]
rs2657916	0.82[EUR][1000 genomes]
rs324121	0.89[EUR][1000 genomes]
rs324122	0.82[EUR][1000 genomes]
rs324124	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs324125	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs707311	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs810592	0.83[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1065410	chr19:52103914-52889530	Genic enhancers Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	596 gene(s)	inside rSNPs	diseases
2	nsv1066015	chr19:52502213-52890308	Flanking Active TSS ZNF genes & repeats Enhancers Weak transcription Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv544059	chr19:52502213-52890308	Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv833873	chr19:52788939-52937281	Weak transcription Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
5	nsv1066537	chr19:52794424-53044977	Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
6	nsv544060	chr19:52794424-53044977	ZNF genes & repeats Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
7	esv3401193	chr19:52818960-52909749	ZNF genes & repeats Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	nsv912300	chr19:52832830-52928039	Active TSS Strong transcription ZNF genes & repeats Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
9	nsv912301	chr19:52835210-52914233	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	16 gene(s)	inside rSNPs	diseases
10	nsv912302	chr19:52859828-52928039	Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
11	nsv2536	chr19:52869457-52902064	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
12	nsv912303	chr19:52874140-52928039	ZNF genes & repeats Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:52871200-52876400	Weak transcription	Dnd41	blood
2	chr19:52873600-52888400	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
3	chr19:52873800-52877600	Weak transcription	Aorta	Aorta
4	chr19:52873800-52877600	Weak transcription	Gastric	stomach
5	chr19:52873800-52885000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
6	chr19:52874000-52876200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr19:52874000-52876400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr19:52874000-52876400	Weak transcription	Colonic Mucosa	Colon
9	chr19:52874000-52879000	Weak transcription	Stomach Mucosa	stomach
10	chr19:52874000-52887200	ZNF genes & repeats	Fetal Intestine Large	intestine
11	chr19:52874200-52876200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr19:52874200-52876200	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr19:52874200-52876200	Weak transcription	Primary T cells from cord blood	blood
14	chr19:52874200-52876200	Weak transcription	Adipose Nuclei	Adipose
15	chr19:52874200-52876200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr19:52874200-52876200	Weak transcription	Colon Smooth Muscle	Colon
17	chr19:52874200-52876200	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr19:52874200-52876200	Weak transcription	NHLF	lung
19	chr19:52874200-52876200	Weak transcription	Osteobl	bone
20	chr19:52874200-52876400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr19:52874200-52876400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr19:52874200-52876400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr19:52874200-52876400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr19:52874200-52876400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr19:52874200-52876400	Weak transcription	Brain Angular Gyrus	brain
26	chr19:52874200-52876400	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr19:52874200-52876400	Weak transcription	Pancreas	Pancrea
28	chr19:52874200-52876400	Weak transcription	Psoas Muscle	Psoas
29	chr19:52874200-52876400	Weak transcription	Rectal Smooth Muscle	rectum
30	chr19:52874200-52876400	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr19:52874200-52876400	Weak transcription	HSMM	muscle
32	chr19:52874200-52877800	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr19:52874200-52880200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr19:52874200-52882200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr19:52874200-52886200	Weak transcription	HUVEC	blood vessel
36	chr19:52874200-52886800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr19:52874400-52876200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr19:52874400-52876200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr19:52874400-52876200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr19:52874400-52876200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr19:52874400-52876200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
42	chr19:52874400-52876200	Weak transcription	Muscle Satellite Cultured Cells	--
43	chr19:52874400-52876200	Weak transcription	Brain Anterior Caudate	brain
44	chr19:52874400-52876200	Weak transcription	Brain Substantia Nigra	brain
45	chr19:52874400-52876200	Weak transcription	Fetal Brain Female	brain
46	chr19:52874400-52876200	Weak transcription	Fetal Kidney	kidney
47	chr19:52874400-52876200	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr19:52874400-52876200	Weak transcription	NH-A	brain
49	chr19:52874400-52876400	Weak transcription	Brain Cingulate Gyrus	brain
50	chr19:52874400-52876400	Weak transcription	NHDF-Ad	bronchial

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