Variant report

Variant	rs2079763
Chromosome Location	chr19:45791203-45791204
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:57182192..57183970-chr19:45789285..45792066,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000224738	Chromatin interaction
ENSG00000108395	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs58038045	1.00[AMR][1000 genomes]
rs58260098	1.00[AMR][1000 genomes]
rs58660494	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833843	chr19:45593888-45793682	Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	esv3403042	chr19:45626786-45874859	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	nsv833844	chr19:45684309-45887406	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv912145	chr19:45708888-45820238	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	esv3424741	chr19:45766777-45811648	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
6	nsv912146	chr19:45788612-45862515	Strong transcription Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	nsv532822	chr19:45790514-46237336	Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	200 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:45756000-45793600	Weak transcription	Psoas Muscle	Psoas
2	chr19:45756600-45801400	Weak transcription	Small Intestine	intestine
3	chr19:45757200-45805400	Weak transcription	Stomach Mucosa	stomach
4	chr19:45758000-45793400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr19:45758200-45803200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
6	chr19:45762000-45796000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
7	chr19:45765800-45795200	Strong transcription	Fetal Intestine Small	intestine
8	chr19:45766600-45804200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr19:45767800-45797200	Strong transcription	Stomach Smooth Muscle	stomach
10	chr19:45768600-45806400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr19:45775400-45793600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr19:45775400-45797000	Weak transcription	Colonic Mucosa	Colon
13	chr19:45775800-45793400	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr19:45776800-45798600	Weak transcription	NHDF-Ad	bronchial
15	chr19:45777000-45793600	Weak transcription	HSMM	muscle
16	chr19:45777200-45795000	Weak transcription	HMEC	breast
17	chr19:45779600-45795800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr19:45779800-45791600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr19:45779800-45794400	Weak transcription	Fetal Brain Male	brain
20	chr19:45779800-45795000	Strong transcription	Fetal Muscle Leg	muscle
21	chr19:45779800-45795000	Strong transcription	Fetal Stomach	stomach
22	chr19:45780200-45804400	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr19:45780800-45797000	Strong transcription	Fetal Muscle Trunk	muscle
24	chr19:45781800-45793400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr19:45783200-45803600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
26	chr19:45783600-45793600	Weak transcription	Rectal Smooth Muscle	rectum
27	chr19:45784000-45795400	Weak transcription	HSMMtube	muscle
28	chr19:45784000-45797600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr19:45784200-45797000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr19:45784400-45795000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr19:45784400-45799000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr19:45784600-45793600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr19:45784600-45793600	Weak transcription	Brain Substantia Nigra	brain
34	chr19:45784600-45803800	Weak transcription	HUVEC	blood vessel
35	chr19:45785000-45791600	Strong transcription	Primary T cells fromperipheralblood	blood
36	chr19:45785000-45798800	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr19:45785200-45795000	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr19:45785400-45797000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr19:45785600-45793400	Weak transcription	Colon Smooth Muscle	Colon
40	chr19:45785600-45793600	Weak transcription	Brain Angular Gyrus	brain
41	chr19:45787000-45803600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
42	chr19:45787000-45806800	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr19:45787200-45793200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr19:45787200-45793400	Weak transcription	HUES48 Cell Line	embryonic stem cell
45	chr19:45787200-45793400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr19:45787200-45793600	Weak transcription	Aorta	Aorta
47	chr19:45787200-45793600	Weak transcription	Brain Anterior Caudate	brain
48	chr19:45787200-45793800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr19:45787200-45793800	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr19:45787200-45793800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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