Variant report

Variant	rs112713310
Chromosome Location	chr19:55777714-55777715
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:55774274..55779427-chr19:55781222..55784326,4	MCF-7	breast:
2	chr19:55769636..55772439-chr19:55775866..55779164,3	MCF-7	breast:
3	chr19:55776171..55778320-chr19:55895617..55898600,2	MCF-7	breast:
4	chr19:55776217..55777883-chr19:55788323..55791248,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000233493	Chromatin interaction
ENSG00000133265	Chromatin interaction
ENSG00000105063	Chromatin interaction
ENSG00000108107	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1816335	chr19:55683977-55901099	Strong transcription Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
2	nsv1065760	chr19:55721521-55929740	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	212 gene(s)	inside rSNPs	diseases
3	nsv912454	chr19:55725410-55783552	Enhancers Flanking Active TSS Strong transcription Genic enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	43 gene(s)	inside rSNPs	diseases
4	nsv912455	chr19:55725410-55879872	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
5	nsv912456	chr19:55725410-55925500	Weak transcription Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	212 gene(s)	inside rSNPs	diseases
6	nsv912457	chr19:55725410-56019597	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	228 gene(s)	inside rSNPs	diseases
7	nsv912458	chr19:55763409-55823822	Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
8	esv3360304	chr19:55775740-55779938	Strong transcription Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Enhancers Genic enhancers Flanking Active TSS	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	esv3338654	chr19:55776996-55778046	Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:55771400-55777800	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr19:55771400-55777800	Weak transcription	Brain Angular Gyrus	brain
3	chr19:55771400-55777800	Weak transcription	NHLF	lung
4	chr19:55771400-55780200	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr19:55771400-55780600	Weak transcription	Brain Substantia Nigra	brain
6	chr19:55771400-55780800	Weak transcription	Right Ventricle	heart
7	chr19:55771400-55781400	Weak transcription	Liver	Liver
8	chr19:55771400-55783600	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr19:55771400-55784800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr19:55771400-55787800	Weak transcription	Osteobl	bone
11	chr19:55771400-55788400	Weak transcription	Stomach Mucosa	stomach
12	chr19:55771400-55790400	Weak transcription	HSMM	muscle
13	chr19:55771400-55790400	Weak transcription	NHDF-Ad	bronchial
14	chr19:55771400-55791600	Weak transcription	Fetal Heart	heart
15	chr19:55771600-55777800	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr19:55771600-55777800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr19:55771600-55777800	Weak transcription	Brain Hippocampus Middle	brain
18	chr19:55771600-55777800	Weak transcription	Duodenum Mucosa	Duodenum
19	chr19:55771600-55777800	Weak transcription	Fetal Brain Male	brain
20	chr19:55771600-55777800	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr19:55771600-55779200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr19:55771600-55779200	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr19:55771600-55779800	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr19:55771600-55780600	Weak transcription	Brain Anterior Caudate	brain
25	chr19:55771600-55781000	Weak transcription	Adipose Nuclei	Adipose
26	chr19:55771600-55781800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
27	chr19:55771600-55781800	Weak transcription	Aorta	Aorta
28	chr19:55771600-55782600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr19:55771600-55783400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr19:55771600-55783400	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr19:55771600-55783600	Weak transcription	Placenta	Placenta
32	chr19:55771600-55785200	Weak transcription	Colon Smooth Muscle	Colon
33	chr19:55771600-55788000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr19:55771600-55790400	Weak transcription	HUVEC	blood vessel
35	chr19:55771800-55777800	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr19:55771800-55781000	Weak transcription	Primary T helper cells fromperipheralblood	blood
37	chr19:55771800-55781600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr19:55771800-55783000	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr19:55771800-55788000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr19:55772000-55777800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr19:55772000-55780200	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr19:55772000-55780400	Weak transcription	Primary T cells from cord blood	blood
43	chr19:55772000-55781600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr19:55772000-55781800	Weak transcription	HSMMtube	muscle
45	chr19:55772000-55783000	Weak transcription	HepG2	liver
46	chr19:55772000-55783400	Weak transcription	Primary hematopoietic stem cells	blood
47	chr19:55772000-55783400	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr19:55772000-55783600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr19:55772000-55784200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr19:55772000-55784800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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