Variant report

Variant	rs2452587
Chromosome Location	chr4:95459624-95459625
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:95457924..95459634-chr4:95461855..95464045,2	K562	blood:
2	chr4:95453797..95455503-chr4:95458519..95460892,2	K562	blood:
3	chr4:95389173..95390941-chr4:95459071..95461024,2	K562	blood:
4	chr4:95373005..95374779-chr4:95458534..95460335,2	K562	blood:
5	chr4:95458379..95460078-chr4:95465243..95467289,2	K562	blood:
6	chr4:95455418..95457640-chr4:95458337..95460219,4	K562	blood:

Variant related genes	Relation type
ENSG00000163110	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10033359	1.00[CEU][hapmap]
rs13107595	1.00[CEU][hapmap]
rs1493113	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2452588	1.00[EUR][1000 genomes]
rs2555207	1.00[EUR][1000 genomes]
rs4699303	1.00[CEU][hapmap]
rs6532493	1.00[CEU][hapmap]
rs6834677	1.00[CEU][hapmap]
rs6842612	1.00[EUR][1000 genomes]
rs7662768	1.00[CEU][hapmap]
rs774983	1.00[CEU][hapmap]
rs966845	1.00[CEU][hapmap]

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:86 , 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	chr4:95449800-95460400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr4:95450400-95465800	Weak transcription	Lung	lung
6	chr4:95453800-95460400	Enhancers	Skeletal Muscle Male	skeletal muscle
7	chr4:95453800-95465400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr4:95454600-95460200	Enhancers	Colon Smooth Muscle	Colon
9	chr4:95454600-95462600	Enhancers	iPS-15b Cell Line	embryonic stem cell
10	chr4:95455600-95460000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr4:95455800-95460200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr4:95456200-95463200	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr4:95456400-95460600	Weak transcription	NHEK	skin
14	chr4:95456400-95462800	Enhancers	HSMMtube	muscle
15	chr4:95456600-95459800	Enhancers	Duodenum Smooth Muscle	Duodenum
16	chr4:95456600-95460200	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr4:95456600-95460800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr4:95456800-95460800	Weak transcription	HMEC	breast
19	chr4:95456800-95465000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr4:95456800-95469800	Weak transcription	Ovary	ovary
21	chr4:95456800-95470200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
22	chr4:95457000-95469800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr4:95457200-95459800	Enhancers	Cortex derived primary cultured neurospheres	brain
24	chr4:95457200-95460000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr4:95457400-95459800	Enhancers	Stomach Mucosa	stomach
26	chr4:95457400-95459800	Enhancers	Osteobl	bone
27	chr4:95457400-95461400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr4:95457400-95461600	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr4:95457400-95462000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
30	chr4:95457400-95462800	Weak transcription	Left Ventricle	heart
31	chr4:95457400-95465800	Weak transcription	Pancreas	Pancrea
32	chr4:95457400-95469800	Weak transcription	Fetal Muscle Leg	muscle
33	chr4:95457400-95470000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr4:95457400-95485400	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr4:95457600-95465600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr4:95457800-95459800	Enhancers	NH-A	brain
37	chr4:95457800-95461200	Enhancers	Fetal Heart	heart
38	chr4:95457800-95466400	Weak transcription	Brain Substantia Nigra	brain
39	chr4:95458000-95460000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr4:95458000-95461600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr4:95458000-95469800	Weak transcription	Small Intestine	intestine
42	chr4:95458000-95480400	Weak transcription	Brain Hippocampus Middle	brain
43	chr4:95458200-95459800	Enhancers	Brain Anterior Caudate	brain
44	chr4:95458200-95461600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr4:95458200-95462400	Weak transcription	Right Ventricle	heart
46	chr4:95458200-95465600	Weak transcription	NHLF	lung
47	chr4:95458200-95483000	Weak transcription	Duodenum Mucosa	Duodenum
48	chr4:95458200-95488800	Weak transcription	Stomach Smooth Muscle	stomach
49	chr4:95458400-95460000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr4:95458400-95461000	Enhancers	HUES6 Cell Line	embryonic stem cell

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