Variant report

Variant	rs12327587
Chromosome Location	chr19:19730669-19730670
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:19729417..19731495-chr19:19772370..19774542,2	MCF-7	breast:
2	chr19:19729717..19731294-chr8:91013062..91014796,2	MCF-7	breast:
3	chr19:19659913..19662328-chr19:19729922..19731592,2	MCF-7	breast:
4	chr19:19730102..19732820-chr19:19733622..19735191,2	MCF-7	breast:
5	chr19:19730445..19732435-chr19:19735094..19738509,3	K562	blood:
6	chr19:19729636..19731895-chr19:19746385..19749069,2	K562	blood:
7	chr19:19651405..19654732-chr19:19727842..19732175,4	MCF-7	breast:
8	chr19:19728345..19731839-chr19:19736250..19740547,12	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000104325	Chromatin interaction
ENSG00000089639	Chromatin interaction
ENSG00000105726	Chromatin interaction
ENSG00000160161	Chromatin interaction
ENSG00000064547	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs7255953	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1828240	chr19:19591146-19900900	Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv1063273	chr19:19591146-20061367	ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
3	nsv911309	chr19:19727042-19784891	Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	26 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	chr19:19729400-19731000	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr19:19729800-19730800	Enhancers	Placenta	Placenta
3	chr19:19729800-19731000	Enhancers	Stomach Mucosa	stomach
4	chr19:19729800-19734600	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr19:19729800-19738600	Weak transcription	Right Atrium	heart
6	chr19:19729800-19744400	Weak transcription	HSMMtube	muscle
7	chr19:19730000-19730800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr19:19730000-19731000	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr19:19730000-19731200	Enhancers	Primary T cells fromperipheralblood	blood
10	chr19:19730000-19733200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
11	chr19:19730000-19733400	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr19:19730000-19733400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr19:19730000-19733400	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr19:19730000-19733400	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr19:19730000-19733400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr19:19730000-19734200	Weak transcription	K562	blood
17	chr19:19730000-19734400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr19:19730000-19734600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr19:19730000-19734600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr19:19730000-19734600	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr19:19730000-19734800	Weak transcription	Lung	lung
22	chr19:19730000-19737000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr19:19730000-19737400	Weak transcription	HMEC	breast
24	chr19:19730000-19738000	Weak transcription	Adipose Nuclei	Adipose
25	chr19:19730000-19738000	Weak transcription	NHEK	skin
26	chr19:19730000-19738200	Weak transcription	Rectal Smooth Muscle	rectum
27	chr19:19730200-19730800	Enhancers	Monocytes-CD14+_RO01746	blood
28	chr19:19730200-19731000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr19:19730200-19731000	Enhancers	Fetal Muscle Trunk	muscle
30	chr19:19730200-19731200	Enhancers	HepG2	liver
31	chr19:19730200-19732200	Weak transcription	Fetal Brain Female	brain
32	chr19:19730200-19733400	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr19:19730200-19733400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
34	chr19:19730200-19733600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr19:19730200-19734200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr19:19730200-19734400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr19:19730200-19734400	Weak transcription	Fetal Intestine Large	intestine
38	chr19:19730200-19734600	Weak transcription	Spleen	Spleen
39	chr19:19730200-19734800	Weak transcription	Fetal Intestine Small	intestine
40	chr19:19730200-19734800	Weak transcription	Ovary	ovary
41	chr19:19730200-19734800	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr19:19730200-19737000	Weak transcription	Primary hematopoietic stem cells	blood
43	chr19:19730200-19737000	Weak transcription	GM12878-XiMat	blood
44	chr19:19730200-19737200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr19:19730200-19737400	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr19:19730200-19738000	Weak transcription	Duodenum Mucosa	Duodenum
47	chr19:19730200-19738200	Weak transcription	Brain Anterior Caudate	brain
48	chr19:19730200-19738200	Weak transcription	Brain Hippocampus Middle	brain
49	chr19:19730200-19740200	Weak transcription	Dnd41	blood
50	chr19:19730400-19730800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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