Variant report

Variant	rs56245612
Chromosome Location	chr19:19048933-19048934
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	chr19:19028307..19038067-chr19:19048419..19054729,15	MCF-7	breast:
2	chr19:19028142..19040542-chr19:19046967..19057144,34	MCF-7	breast:

Variant related genes	Relation type
ENSG00000105671	Chromatin interaction
ENSG00000105669	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs16995785	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv911293	chr19:18872917-19050957	Flanking Active TSS Genic enhancers Strong transcription Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv911294	chr19:18872917-19093619	Active TSS Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv911297	chr19:18928480-19077385	Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
4	nsv911298	chr19:18928480-19093619	Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
5	nsv911300	chr19:18944025-19093619	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
6	nsv470132	chr19:18964442-19054720	Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
7	nsv911301	chr19:18994638-19077385	Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
8	nsv911302	chr19:18995201-19088981	Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
9	nsv833778	chr19:19012669-19201487	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
10	nsv543926	chr19:19029529-19062771	Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19032200-19049400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr19:19032200-19049600	Strong transcription	Fetal Muscle Leg	muscle
3	chr19:19032400-19050400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr19:19032800-19049600	Strong transcription	Fetal Muscle Trunk	muscle
5	chr19:19036000-19049800	Weak transcription	Hela-S3	cervix
6	chr19:19037000-19049000	Weak transcription	HepG2	liver
7	chr19:19039800-19050600	Weak transcription	Aorta	Aorta
8	chr19:19040000-19050600	Weak transcription	Brain Angular Gyrus	brain
9	chr19:19040000-19050600	Weak transcription	Dnd41	blood
10	chr19:19040400-19050400	Weak transcription	Psoas Muscle	Psoas
11	chr19:19041800-19050200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr19:19043000-19050600	Weak transcription	Fetal Intestine Large	intestine
13	chr19:19043400-19050800	Weak transcription	Left Ventricle	heart
14	chr19:19043600-19049000	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr19:19043600-19049600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr19:19043600-19050000	Weak transcription	Rectal Smooth Muscle	rectum
17	chr19:19043600-19050400	Weak transcription	Brain Anterior Caudate	brain
18	chr19:19043600-19050400	Weak transcription	Colonic Mucosa	Colon
19	chr19:19043600-19050400	Weak transcription	Colon Smooth Muscle	Colon
20	chr19:19043600-19050600	Weak transcription	Brain Inferior Temporal Lobe	brain
21	chr19:19043600-19051200	Weak transcription	Gastric	stomach
22	chr19:19044000-19049000	Weak transcription	Duodenum Mucosa	Duodenum
23	chr19:19044000-19049200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr19:19044000-19049600	Weak transcription	Fetal Brain Male	brain
25	chr19:19044000-19050200	Strong transcription	Fetal Stomach	stomach
26	chr19:19044000-19050800	Weak transcription	Esophagus	oesophagus
27	chr19:19044200-19049800	Strong transcription	Cortex derived primary cultured neurospheres	brain
28	chr19:19044200-19049800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr19:19044200-19050400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr19:19044200-19050400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr19:19044200-19050400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr19:19044400-19049000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
33	chr19:19044400-19049400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr19:19044400-19049600	Strong transcription	Primary monocytes fromperipheralblood	blood
35	chr19:19044400-19049600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr19:19044400-19049800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr19:19044400-19049800	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr19:19044400-19050400	Weak transcription	HUES48 Cell Line	embryonic stem cell
39	chr19:19044400-19050800	Weak transcription	Pancreas	Pancrea
40	chr19:19044600-19050000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
41	chr19:19044800-19049800	Strong transcription	NHDF-Ad	bronchial
42	chr19:19045000-19050600	Weak transcription	Right Ventricle	heart
43	chr19:19045200-19049000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr19:19045200-19050400	Weak transcription	Brain Hippocampus Middle	brain
45	chr19:19045400-19049000	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr19:19045400-19049000	Weak transcription	Fetal Brain Female	brain
47	chr19:19045400-19050400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr19:19045400-19050400	Weak transcription	A549	lung
49	chr19:19045600-19049000	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr19:19045600-19049000	Weak transcription	Osteobl	bone

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