Variant report

Variant	rs7321483
Chromosome Location	chr13:49070300-49070301
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:49065216..49067091-chr13:49070291..49073195,2	K562	blood:
2	chr13:49068490..49070652-chr13:49071490..49073250,2	K562	blood:
3	chr13:49070136..49072576-chr13:49104860..49107906,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000136161	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs4151619	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4151630	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6561450	0.95[AFR][1000 genomes]
rs6561451	0.95[AFR][1000 genomes]
rs6561453	0.85[AFR][1000 genomes]
rs6561454	0.95[AFR][1000 genomes]
rs7317090	0.95[AFR][1000 genomes]
rs7322265	0.95[AFR][1000 genomes]
rs7322855	0.95[AFR][1000 genomes]
rs7325162	0.82[AFR][1000 genomes]
rs7332828	0.95[AFR][1000 genomes]
rs7334590	0.95[AFR][1000 genomes]
rs7984753	0.95[AFR][1000 genomes]
rs7987986	0.86[AFR][1000 genomes]
rs7988909	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7989808	1.00[AFR][1000 genomes]
rs9331963	0.95[AFR][1000 genomes]
rs9331967	0.95[AFR][1000 genomes]
rs9331992	0.95[AFR][1000 genomes]
rs9332004	0.95[AFR][1000 genomes]
rs9332006	0.95[AFR][1000 genomes]
rs9332010	0.87[AFR][1000 genomes]
rs9332020	1.00[AFR][1000 genomes]
rs9332023	1.00[AFR][1000 genomes]
rs9332024	1.00[AFR][1000 genomes]
rs9332027	1.00[AFR][1000 genomes]
rs9332039	1.00[AFR][1000 genomes]
rs9332041	1.00[AFR][1000 genomes]
rs9332047	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9332052	1.00[AMR][1000 genomes]
rs9332074	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9332077	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9332081	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832602	chr13:49003159-49167781	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv1041275	chr13:49045566-49242357	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	nsv541769	chr13:49045566-49242357	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv832604	chr13:49061081-49281807	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS 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	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49023800-49073800	Weak transcription	NH-A	brain
2	chr13:49028000-49071000	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr13:49030600-49070600	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr13:49034400-49073800	Weak transcription	Esophagus	oesophagus
5	chr13:49035200-49073400	Weak transcription	Fetal Intestine Small	intestine
6	chr13:49053600-49071200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr13:49054000-49094000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr13:49061400-49072000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr13:49062600-49070800	Weak transcription	Fetal Brain Male	brain
10	chr13:49062800-49070400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr13:49062800-49072000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr13:49063000-49087800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr13:49063200-49071000	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr13:49064200-49075200	Weak transcription	Fetal Intestine Large	intestine
15	chr13:49064600-49070600	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr13:49064800-49071200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr13:49065400-49072000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr13:49066800-49073200	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr13:49066800-49080200	Weak transcription	Colonic Mucosa	Colon
20	chr13:49067000-49071400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr13:49067000-49071600	Weak transcription	HepG2	liver
22	chr13:49067000-49072800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr13:49067000-49074600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr13:49067000-49080200	Weak transcription	Psoas Muscle	Psoas
25	chr13:49067000-49084200	Weak transcription	Ovary	ovary
26	chr13:49067200-49071400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
27	chr13:49067200-49071800	Enhancers	Primary T helper cells fromperipheralblood	blood
28	chr13:49067200-49072400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr13:49067200-49072400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
30	chr13:49067200-49073200	Weak transcription	Stomach Smooth Muscle	stomach
31	chr13:49067200-49074600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr13:49067200-49079200	Weak transcription	Duodenum Mucosa	Duodenum
33	chr13:49067200-49079600	Weak transcription	Rectal Mucosa Donor 29	rectum
34	chr13:49067200-49080200	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr13:49067200-49105200	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr13:49067200-49105400	Weak transcription	Rectal Smooth Muscle	rectum
37	chr13:49067400-49072000	Enhancers	Primary T helper cells PMA-I stimulated	--
38	chr13:49067600-49070400	Weak transcription	Thymus	Thymus
39	chr13:49067600-49071600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
40	chr13:49067800-49071000	Weak transcription	Primary B cells from peripheral blood	blood
41	chr13:49067800-49071400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr13:49067800-49072000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr13:49067800-49072000	Weak transcription	Spleen	Spleen
44	chr13:49067800-49073200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr13:49067800-49074800	Weak transcription	Left Ventricle	heart
46	chr13:49067800-49074800	Weak transcription	NHLF	lung
47	chr13:49067800-49078600	Weak transcription	Placenta	Placenta
48	chr13:49067800-49078600	Weak transcription	Right Atrium	heart
49	chr13:49067800-49078600	Weak transcription	Stomach Mucosa	stomach
50	chr13:49067800-49079400	Weak transcription	Skeletal Muscle Female	skeletal muscle

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