Variant report

Variant	rs9591168
Chromosome Location	chr13:49102512-49102513
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:49097151..49098767-chr13:49101729..49104209,2	K562	blood:
2	chr13:49094520..49096357-chr13:49101326..49103599,2	MCF-7	breast:
3	chr13:49101273..49103974-chr13:49105357..49108407,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000136161	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10162207	1.00[EUR][1000 genomes]
rs60546811	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60646582	1.00[EUR][1000 genomes]
rs73490879	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73495127	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9316400	1.00[EUR][1000 genomes]
rs9591164	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9591179	1.00[EUR][1000 genomes]
rs9591181	1.00[EUR][1000 genomes]
rs9595892	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9595906	0.88[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9595915	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9595921	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9595922	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9595923	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9595925	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9805455	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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
5	nsv1049117	chr13:49089476-49928945	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49067200-49105200	Weak transcription	Duodenum Smooth Muscle	Duodenum
2	chr13:49067200-49105400	Weak transcription	Rectal Smooth Muscle	rectum
3	chr13:49068000-49105600	Weak transcription	Gastric	stomach
4	chr13:49068200-49102600	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr13:49071200-49105600	Weak transcription	Fetal Brain Male	brain
6	chr13:49071800-49105800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr13:49080600-49105600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr13:49080800-49105400	Weak transcription	Duodenum Mucosa	Duodenum
9	chr13:49081400-49105600	Weak transcription	Placenta	Placenta
10	chr13:49083800-49105600	Weak transcription	Esophagus	oesophagus
11	chr13:49085000-49104800	Weak transcription	Primary T helper cells fromperipheralblood	blood
12	chr13:49085000-49104800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr13:49085200-49105600	Weak transcription	Fetal Thymus	thymus
14	chr13:49086200-49105600	Weak transcription	Lung	lung
15	chr13:49086200-49105600	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr13:49086200-49105600	Weak transcription	HSMMtube	muscle
17	chr13:49086400-49105000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
18	chr13:49086400-49105600	Weak transcription	Brain Germinal Matrix	brain
19	chr13:49086400-49105600	Weak transcription	HUVEC	blood vessel
20	chr13:49086400-49106200	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr13:49086600-49105600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr13:49087000-49104600	Weak transcription	Dnd41	blood
23	chr13:49087400-49105600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr13:49089200-49105800	Weak transcription	Ovary	ovary
25	chr13:49089400-49105600	Weak transcription	Primary hematopoietic stem cells	blood
26	chr13:49089600-49105600	Weak transcription	Fetal Muscle Trunk	muscle
27	chr13:49090400-49105600	Weak transcription	Brain Cingulate Gyrus	brain
28	chr13:49090600-49105000	Weak transcription	Brain Anterior Caudate	brain
29	chr13:49091400-49105600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr13:49091600-49105600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr13:49091600-49105600	Weak transcription	Stomach Smooth Muscle	stomach
32	chr13:49092000-49105600	Weak transcription	Psoas Muscle	Psoas
33	chr13:49092200-49105400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr13:49092600-49105600	Weak transcription	Fetal Stomach	stomach
35	chr13:49094600-49105400	Weak transcription	Fetal Muscle Leg	muscle
36	chr13:49094800-49105600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr13:49096000-49105400	Weak transcription	Fetal Lung	lung
38	chr13:49096200-49105600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr13:49096200-49105600	Weak transcription	Fetal Kidney	kidney
40	chr13:49096200-49105600	Weak transcription	Left Ventricle	heart
41	chr13:49096600-49105200	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr13:49100400-49102800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
43	chr13:49101000-49103800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
44	chr13:49101600-49102600	Flanking Active TSS	Adipose Nuclei	Adipose
45	chr13:49101600-49102600	Enhancers	Liver	Liver
46	chr13:49101600-49102600	Enhancers	Monocytes-CD14+_RO01746	blood
47	chr13:49101600-49102800	Enhancers	Primary hematopoietic stem cells short term culture	blood
48	chr13:49101600-49102800	Active TSS	Right Atrium	heart
49	chr13:49101600-49103800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
50	chr13:49101600-49105800	Enhancers	Primary monocytes fromperipheralblood	blood

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