Variant report

Variant	rs4148504
Chromosome Location	chr13:95805998-95805999
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:95799812..95802895-chr13:95803693..95806820,3	K562	blood:
2	chr13:95799723..95801312-chr13:95804611..95806308,2	K562	blood:
3	chr13:95779479..95782281-chr13:95805249..95807826,2	MCF-7	breast:
4	chr13:95775918..95777949-chr13:95804692..95806351,2	MCF-7	breast:
5	chr13:95766396..95768415-chr13:95805096..95807111,2	MCF-7	breast:
6	chr13:95771772..95773594-chr13:95805832..95808411,2	MCF-7	breast:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs1471481	1.00[ASN][1000 genomes]
rs1729743	0.84[AMR][1000 genomes]
rs3765534	1.00[AMR][1000 genomes]
rs55773053	1.00[ASN][1000 genomes]
rs59383131	0.91[AMR][1000 genomes]
rs72643618	1.00[ASN][1000 genomes]
rs72643625	0.98[ASN][1000 genomes]
rs7988271	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7993886	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv533659	chr13:95757713-96042149	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv832689	chr13:95759073-95921308	Genic enhancers ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
3	nsv900925	chr13:95790353-95808003	Strong transcription Enhancers ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:95727000-95812000	Weak transcription	Primary T helper cells fromperipheralblood	blood
2	chr13:95750400-95812400	Weak transcription	Duodenum Mucosa	Duodenum
3	chr13:95750400-95815400	Weak transcription	Fetal Intestine Large	intestine
4	chr13:95752200-95823200	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr13:95752200-95844200	Weak transcription	Rectal Smooth Muscle	rectum
6	chr13:95756400-95828200	Weak transcription	HSMM	muscle
7	chr13:95757600-95814400	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr13:95762200-95817200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr13:95762400-95811800	Weak transcription	K562	blood
10	chr13:95768200-95806600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr13:95768200-95819000	Weak transcription	Fetal Intestine Small	intestine
12	chr13:95774600-95815800	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr13:95778800-95833400	Weak transcription	Spleen	Spleen
14	chr13:95782000-95828000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr13:95787800-95827200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr13:95789200-95812400	Weak transcription	Aorta	Aorta
17	chr13:95789200-95817600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr13:95790000-95806600	Weak transcription	NH-A	brain
19	chr13:95790200-95812000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr13:95791000-95821400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr13:95792600-95809200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr13:95792600-95811800	Weak transcription	Lung	lung
23	chr13:95792600-95813400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr13:95792600-95817000	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr13:95792800-95810400	Weak transcription	NHLF	lung
26	chr13:95792800-95815800	Weak transcription	Stomach Smooth Muscle	stomach
27	chr13:95793200-95809600	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr13:95794200-95811600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
29	chr13:95798600-95810400	Weak transcription	GM12878-XiMat	blood
30	chr13:95799200-95833400	Weak transcription	HSMMtube	muscle
31	chr13:95799600-95812400	Weak transcription	Colon Smooth Muscle	Colon
32	chr13:95800400-95811800	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr13:95802000-95810000	Enhancers	Stomach Mucosa	stomach
34	chr13:95802000-95811600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr13:95802000-95811600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr13:95802600-95808800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr13:95803200-95806200	Weak transcription	Osteobl	bone
38	chr13:95803200-95806400	Weak transcription	NHDF-Ad	bronchial
39	chr13:95803600-95806000	Weak transcription	Monocytes-CD14+_RO01746	blood
40	chr13:95803600-95806400	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr13:95803600-95808000	Weak transcription	HepG2	liver
42	chr13:95803800-95808600	Enhancers	Fetal Lung	lung
43	chr13:95804000-95808400	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr13:95804400-95807000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
45	chr13:95804400-95811800	Weak transcription	Primary T cells from cord blood	blood
46	chr13:95804600-95806600	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr13:95804600-95806600	Enhancers	iPS-18 Cell Line	embryonic stem cell
48	chr13:95804600-95807200	Enhancers	iPS-20b Cell Line	embryonic stem cell
49	chr13:95804600-95807400	Enhancers	iPS-15b Cell Line	embryonic stem cell
50	chr13:95804600-95808400	Enhancers	HUES6 Cell Line	embryonic stem cell

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