Variant report

Variant	rs12508474
Chromosome Location	chr4:129473906-129473907
allele	A/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:7)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:129472659..129478043-chr4:129729703..129733779,4	K562	blood:
2	chr4:129458065..129461064-chr4:129472367..129473939,2	MCF-7	breast:
3	chr4:129473168..129475213-chr4:129730479..129732295,2	K562	blood:
4	chr4:129471355..129474956-chr4:129730853..129734024,4	MCF-7	breast:
5	chr4:129473084..129475457-chr4:129489959..129493905,4	K562	blood:
6	chr4:129207739..129209319-chr4:129473480..129475503,2	MCF-7	breast:
7	chr4:129472709..129474756-chr4:129728389..129731319,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PGRMC2-2	chr4:129473745-129473992	ENSG00000273077.1

No data

Variant related genes	Relation type
ENSG00000164040	Chromatin interaction
ENSG00000248187	Chromatin interaction
ENSG00000077684	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12512538	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869258	chr4:129191619-130138148	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers 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 target site	79 gene(s)	inside rSNPs	diseases
2	nsv1017672	chr4:129450450-129603977	Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:129460400-129474200	Weak transcription	Esophagus	oesophagus
2	chr4:129473400-129474000	Enhancers	Fetal Heart	heart
3	chr4:129473400-129475000	Active TSS	Stomach Smooth Muscle	stomach
4	chr4:129473600-129474000	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr4:129473600-129474000	Flanking Active TSS	Liver	Liver
6	chr4:129473600-129474000	Flanking Active TSS	A549	lung
7	chr4:129473600-129474200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
8	chr4:129473600-129474400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr4:129473800-129474000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr4:129473800-129474000	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr4:129473800-129474000	Enhancers	Primary T cells from cord blood	blood
12	chr4:129473800-129474000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
13	chr4:129473800-129474000	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr4:129473800-129474000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
15	chr4:129473800-129474000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
16	chr4:129473800-129474000	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
17	chr4:129473800-129474000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr4:129473800-129474000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
19	chr4:129473800-129474000	Flanking Active TSS	Duodenum Mucosa	Duodenum
20	chr4:129473800-129474000	Flanking Active TSS	Fetal Intestine Large	intestine
21	chr4:129473800-129474000	Flanking Active TSS	Fetal Intestine Small	intestine
22	chr4:129473800-129474000	Enhancers	Fetal Lung	lung
23	chr4:129473800-129474000	Enhancers	Placenta	Placenta
24	chr4:129473800-129474000	Enhancers	Psoas Muscle	Psoas
25	chr4:129473800-129474000	Flanking Active TSS	Stomach Mucosa	stomach
26	chr4:129473800-129474000	Enhancers	Dnd41	blood
27	chr4:129473800-129474000	Flanking Active TSS	HepG2	liver
28	chr4:129473800-129474000	Flanking Active TSS	HSMMtube	muscle
29	chr4:129473800-129474000	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
30	chr4:129473800-129474000	Flanking Active TSS	NHLF	lung
31	chr4:129473800-129474200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr4:129473800-129474200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr4:129473800-129474200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
34	chr4:129473800-129474200	Active TSS	Fetal Muscle Trunk	muscle
35	chr4:129473800-129474200	Flanking Active TSS	Fetal Stomach	stomach
36	chr4:129473800-129474200	Flanking Active TSS	Placenta Amnion	Placenta Amnion
37	chr4:129473800-129474200	Flanking Active TSS	GM12878-XiMat	blood
38	chr4:129473800-129474200	Flanking Active TSS	Hela-S3	cervix
39	chr4:129473800-129474200	Flanking Active TSS	HMEC	breast
40	chr4:129473800-129474200	Enhancers	HSMM	muscle
41	chr4:129473800-129474200	Flanking Active TSS	K562	blood
42	chr4:129473800-129474200	Flanking Active TSS	NHDF-Ad	bronchial
43	chr4:129473800-129474200	Flanking Active TSS	NHEK	skin
44	chr4:129473800-129474400	Active TSS	Adipose Nuclei	Adipose
45	chr4:129473800-129474400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
46	chr4:129473800-129474600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr4:129473800-129474600	Active TSS	Brain Inferior Temporal Lobe	brain
48	chr4:129473800-129474800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
49	chr4:129473800-129474800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr4:129473800-129474800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin

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