Variant report

Variant	rs2136502
Chromosome Location	chr4:48267772-48267773
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:48264189..48268843-chr4:48269527..48273164,9	K562	blood:
2	chr4:48264879..48267835-chr4:48269527..48271829,4	K562	blood:
3	chr4:48262092..48265166-chr4:48265573..48268015,3	K562	blood:
4	chr4:48265765..48268538-chr4:48269206..48271993,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000135605	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs12499164	0.82[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs12510551	0.84[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs2055800	0.85[AMR][1000 genomes]
rs2352595	0.85[AMR][1000 genomes]
rs2464503	0.85[AMR][1000 genomes]
rs2704411	0.85[AMR][1000 genomes]
rs4235154	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs4478160	0.91[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs6447624	0.90[AFR][1000 genomes]
rs7661341	0.82[AFR][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	esv3447039	chr4:47822266-48285222	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv482316	chr4:48151953-48338746	Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	esv2763359	chr4:48189710-48290233	ZNF genes & repeats Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
4	nsv1006610	chr4:48209294-48415387	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv537085	chr4:48209294-48415387	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	nsv461357	chr4:48248258-48274152	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
7	nsv594119	chr4:48248258-48274152	Active TSS Genic enhancers Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
8	nsv470032	chr4:48251915-48312389	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
9	nsv461358	chr4:48251916-48274152	Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
10	nsv594120	chr4:48251916-48274152	Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48248800-48270600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr4:48251400-48270000	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr4:48251800-48270200	Weak transcription	Fetal Intestine Large	intestine
4	chr4:48257400-48270600	Weak transcription	Right Ventricle	heart
5	chr4:48257400-48271000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr4:48257400-48271200	Weak transcription	Esophagus	oesophagus
7	chr4:48257600-48271200	Weak transcription	Gastric	stomach
8	chr4:48258000-48270800	Weak transcription	Fetal Intestine Small	intestine
9	chr4:48258400-48269400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr4:48258400-48270000	Weak transcription	Duodenum Mucosa	Duodenum
11	chr4:48258400-48271200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr4:48263200-48269600	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr4:48263200-48270600	Weak transcription	Thymus	Thymus
14	chr4:48263400-48269600	Weak transcription	Primary B cells from peripheral blood	blood
15	chr4:48263400-48269800	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr4:48263600-48267800	Weak transcription	Primary hematopoietic stem cells	blood
17	chr4:48263800-48270600	Weak transcription	Primary B cells from cord blood	blood
18	chr4:48263800-48271200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr4:48265200-48268000	Weak transcription	K562	blood
20	chr4:48265200-48271200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr4:48265400-48269600	Weak transcription	Spleen	Spleen
22	chr4:48265400-48270000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr4:48266000-48267800	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr4:48266000-48268000	Weak transcription	Primary neutrophils fromperipheralblood	blood
25	chr4:48266400-48268000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
26	chr4:48267000-48268000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr4:48267200-48268000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr4:48267200-48268000	Weak transcription	GM12878-XiMat	blood
29	chr4:48267600-48271000	Enhancers	Primary monocytes fromperipheralblood	blood

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