Variant report

Variant	rs9332048
Chromosome Location	chr13:49075113-49075114
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:49066317..49068459-chr13:49073928..49075797,3	MCF-7	breast:
2	chr13:49073253..49075349-chr13:49104032..49107682,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000136161	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs17069281	1.00[EUR][1000 genomes]
rs17071548	1.00[EUR][1000 genomes]
rs17071560	1.00[EUR][1000 genomes]
rs17071673	1.00[EUR][1000 genomes]
rs17071675	1.00[EUR][1000 genomes]
rs17071714	1.00[EUR][1000 genomes]
rs17071716	1.00[EUR][1000 genomes]
rs3092865	1.00[EUR][1000 genomes]
rs3092883	1.00[EUR][1000 genomes]
rs3901587	1.00[EUR][1000 genomes]
rs41425345	1.00[EUR][1000 genomes]
rs4151460	1.00[EUR][1000 genomes]
rs4151468	1.00[EUR][1000 genomes]
rs4151487	1.00[EUR][1000 genomes]
rs4151514	1.00[EUR][1000 genomes]
rs4151516	1.00[EUR][1000 genomes]
rs4151527	1.00[EUR][1000 genomes]
rs4151563	1.00[EUR][1000 genomes]
rs4151587	1.00[EUR][1000 genomes]
rs4151621	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4151628	1.00[EUR][1000 genomes]
rs4303378	1.00[EUR][1000 genomes]
rs56945534	1.00[EUR][1000 genomes]
rs58318754	1.00[EUR][1000 genomes]
rs59355608	1.00[EUR][1000 genomes]
rs59550884	1.00[EUR][1000 genomes]
rs6561463	1.00[EUR][1000 genomes]
rs6561467	1.00[EUR][1000 genomes]
rs7316991	1.00[EUR][1000 genomes]
rs7321847	1.00[EUR][1000 genomes]
rs7323517	1.00[EUR][1000 genomes]
rs7324752	1.00[EUR][1000 genomes]
rs7325924	1.00[EUR][1000 genomes]
rs7329733	1.00[EUR][1000 genomes]
rs7333561	1.00[EUR][1000 genomes]
rs7336389	1.00[EUR][1000 genomes]
rs7337056	1.00[EUR][1000 genomes]
rs73487075	1.00[EUR][1000 genomes]
rs73487091	1.00[EUR][1000 genomes]
rs73490880	1.00[EUR][1000 genomes]
rs73493099	1.00[EUR][1000 genomes]
rs74074170	1.00[EUR][1000 genomes]
rs74074184	1.00[EUR][1000 genomes]
rs7981750	1.00[EUR][1000 genomes]
rs7984036	1.00[EUR][1000 genomes]
rs7984309	1.00[EUR][1000 genomes]
rs7997794	1.00[EUR][1000 genomes]
rs9331954	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs9332019	0.89[MKK][hapmap];0.82[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9332086	1.00[EUR][1000 genomes]
rs943282	1.00[EUR][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:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49054000-49094000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr13:49063000-49087800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
3	chr13:49064200-49075200	Weak transcription	Fetal Intestine Large	intestine
4	chr13:49066800-49080200	Weak transcription	Colonic Mucosa	Colon
5	chr13:49067000-49080200	Weak transcription	Psoas Muscle	Psoas
6	chr13:49067000-49084200	Weak transcription	Ovary	ovary
7	chr13:49067200-49079200	Weak transcription	Duodenum Mucosa	Duodenum
8	chr13:49067200-49079600	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr13:49067200-49080200	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr13:49067200-49105200	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr13:49067200-49105400	Weak transcription	Rectal Smooth Muscle	rectum
12	chr13:49067800-49078600	Weak transcription	Placenta	Placenta
13	chr13:49067800-49078600	Weak transcription	Right Atrium	heart
14	chr13:49067800-49078600	Weak transcription	Stomach Mucosa	stomach
15	chr13:49067800-49079400	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr13:49067800-49098000	Weak transcription	Right Ventricle	heart
17	chr13:49068000-49075400	Weak transcription	Fetal Kidney	kidney
18	chr13:49068000-49075600	Weak transcription	Pancreas	Pancrea
19	chr13:49068000-49078200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr13:49068000-49078400	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr13:49068000-49105600	Weak transcription	Gastric	stomach
22	chr13:49068200-49102600	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr13:49068400-49081000	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr13:49068800-49076400	Weak transcription	Lung	lung
25	chr13:49070200-49077200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr13:49070400-49078600	Strong transcription	Fetal Muscle Trunk	muscle
27	chr13:49070600-49075200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr13:49071200-49105600	Weak transcription	Fetal Brain Male	brain
29	chr13:49071600-49078000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr13:49071600-49078600	Weak transcription	Thymus	Thymus
31	chr13:49071600-49078800	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr13:49071800-49077400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr13:49071800-49077600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr13:49071800-49079200	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr13:49071800-49086200	Strong transcription	Fetal Stomach	stomach
36	chr13:49071800-49105800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr13:49072000-49077400	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr13:49072000-49088400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr13:49072200-49078200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr13:49072200-49079400	Weak transcription	Brain Angular Gyrus	brain
41	chr13:49072200-49080200	Weak transcription	Spleen	Spleen
42	chr13:49072200-49085800	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr13:49072200-49095600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr13:49072400-49077200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
45	chr13:49072400-49077200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr13:49072400-49078800	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr13:49072400-49079800	Weak transcription	Brain Substantia Nigra	brain
48	chr13:49072400-49080200	Weak transcription	Aorta	Aorta
49	chr13:49072400-49080400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr13:49072800-49075600	Enhancers	HSMMtube	muscle

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