Variant report

Variant	rs1493113
Chromosome Location	chr4:95462751-95462752
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:95455231..95457643-chr4:95461903..95464194,2	K562	blood:
2	chr4:95457924..95459634-chr4:95461855..95464045,2	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs2452587	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2452588	1.00[EUR][1000 genomes]
rs2555207	1.00[EUR][1000 genomes]
rs6842612	1.00[EUR][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	nsv993495	chr4:94992315-95482578	Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv594901	chr4:95254730-95493246	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv1003743	chr4:95255957-95469831	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:95422400-95482800	Weak transcription	Fetal Muscle Trunk	muscle
2	chr4:95442000-95469600	Weak transcription	Primary T cells from cord blood	blood
3	chr4:95449200-95470200	Weak transcription	Sigmoid Colon	Sigmoid Colon
4	chr4:95450400-95465800	Weak transcription	Lung	lung
5	chr4:95453800-95465400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr4:95456200-95463200	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr4:95456400-95462800	Enhancers	HSMMtube	muscle
8	chr4:95456800-95465000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr4:95456800-95469800	Weak transcription	Ovary	ovary
10	chr4:95456800-95470200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr4:95457000-95469800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr4:95457400-95462800	Weak transcription	Left Ventricle	heart
13	chr4:95457400-95465800	Weak transcription	Pancreas	Pancrea
14	chr4:95457400-95469800	Weak transcription	Fetal Muscle Leg	muscle
15	chr4:95457400-95470000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr4:95457400-95485400	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr4:95457600-95465600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr4:95457800-95466400	Weak transcription	Brain Substantia Nigra	brain
19	chr4:95458000-95469800	Weak transcription	Small Intestine	intestine
20	chr4:95458000-95480400	Weak transcription	Brain Hippocampus Middle	brain
21	chr4:95458200-95465600	Weak transcription	NHLF	lung
22	chr4:95458200-95483000	Weak transcription	Duodenum Mucosa	Duodenum
23	chr4:95458200-95488800	Weak transcription	Stomach Smooth Muscle	stomach
24	chr4:95458400-95465200	Weak transcription	HepG2	liver
25	chr4:95458400-95468600	Weak transcription	Liver	Liver
26	chr4:95458400-95469800	Weak transcription	Fetal Intestine Large	intestine
27	chr4:95459000-95465200	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr4:95459000-95473000	Weak transcription	Fetal Kidney	kidney
29	chr4:95459000-95480400	Weak transcription	Adipose Nuclei	Adipose
30	chr4:95459600-95463000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr4:95459600-95464600	Weak transcription	HSMM	muscle
32	chr4:95459600-95471000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr4:95459800-95465200	Weak transcription	NH-A	brain
34	chr4:95459800-95465200	Weak transcription	NHDF-Ad	bronchial
35	chr4:95459800-95466400	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr4:95459800-95481200	Weak transcription	Aorta	Aorta
37	chr4:95460000-95464600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr4:95460000-95466000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr4:95460200-95472400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr4:95460400-95462800	Weak transcription	Psoas Muscle	Psoas
41	chr4:95460400-95464600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr4:95460400-95465600	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr4:95460400-95469800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr4:95460800-95464800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr4:95461000-95463200	Enhancers	Placenta	Placenta
46	chr4:95461400-95463000	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr4:95461400-95463200	Enhancers	H1 Cell Line	embryonic stem cell
48	chr4:95461400-95463200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr4:95461600-95463000	Enhancers	H9 Cell Line	embryonic stem cell
50	chr4:95461600-95463000	Genic enhancers	Fetal Heart	heart

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