Variant report

Variant	rs7336795
Chromosome Location	chr13:49160467-49160468
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs2274400	1.00[CEU][hapmap]
rs2897587	0.97[ASN][1000 genomes]
rs4151601	1.00[CEU][hapmap]
rs56810978	0.84[ASN][1000 genomes]
rs6561465	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs7329865	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7331851	1.00[CEU][hapmap]
rs7995216	1.00[CEU][hapmap]
rs7996186	1.00[CEU][hapmap]
rs9331965	1.00[CEU][hapmap]
rs9331973	1.00[CEU][hapmap]
rs9591182	0.97[ASN][1000 genomes]
rs9595929	0.81[ASN][1000 genomes]
rs9595931	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs9595932	0.97[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs9595935	0.97[AFR][1000 genomes];0.84[AMR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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
6	nsv455881	chr13:49134412-49169570	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
7	nsv561591	chr13:49134412-49169570	Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49147600-49160800	Weak transcription	Thymus	Thymus
2	chr13:49148400-49160600	Weak transcription	Fetal Muscle Trunk	muscle
3	chr13:49154200-49160800	Weak transcription	Primary hematopoietic stem cells	blood
4	chr13:49154200-49160800	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr13:49154800-49160800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr13:49156000-49161400	Enhancers	HepG2	liver
7	chr13:49156400-49161400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr13:49157400-49161200	Enhancers	HSMMtube	muscle
9	chr13:49157600-49164800	Weak transcription	Gastric	stomach
10	chr13:49157800-49161200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr13:49158000-49161400	Enhancers	Colon Smooth Muscle	Colon
12	chr13:49158000-49161600	Enhancers	HMEC	breast
13	chr13:49158000-49161600	Enhancers	HUVEC	blood vessel
14	chr13:49158200-49161000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr13:49158200-49161000	Enhancers	Osteobl	bone
16	chr13:49158200-49161400	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr13:49158400-49161200	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr13:49158600-49161000	Enhancers	Brain Germinal Matrix	brain
19	chr13:49158600-49161200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr13:49158600-49161200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr13:49158600-49161200	Enhancers	Brain Cingulate Gyrus	brain
22	chr13:49158600-49161200	Enhancers	Stomach Mucosa	stomach
23	chr13:49158600-49161400	Enhancers	Adipose Nuclei	Adipose
24	chr13:49158600-49161400	Enhancers	Fetal Muscle Leg	muscle
25	chr13:49158800-49161000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr13:49158800-49161200	Enhancers	Rectal Mucosa Donor 31	rectum
27	chr13:49158800-49161400	Enhancers	Brain Angular Gyrus	brain
28	chr13:49158800-49161400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
29	chr13:49158800-49161400	Enhancers	Duodenum Smooth Muscle	Duodenum
30	chr13:49158800-49161400	Enhancers	Rectal Smooth Muscle	rectum
31	chr13:49158800-49161400	Enhancers	Monocytes-CD14+_RO01746	blood
32	chr13:49159000-49160600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr13:49159000-49161000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr13:49159000-49161000	Weak transcription	Primary neutrophils fromperipheralblood	blood
35	chr13:49159000-49162200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr13:49159200-49161000	Enhancers	HSMM	muscle
37	chr13:49159200-49161200	Enhancers	Fetal Lung	lung
38	chr13:49159200-49161400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr13:49159200-49161400	Enhancers	Brain Substantia Nigra	brain
40	chr13:49159200-49161400	Enhancers	Duodenum Mucosa	Duodenum
41	chr13:49159200-49163400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr13:49159400-49160600	Weak transcription	Right Atrium	heart
43	chr13:49159400-49161000	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr13:49159400-49161200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr13:49159400-49161200	Enhancers	Muscle Satellite Cultured Cells	--
46	chr13:49159400-49161200	Enhancers	Rectal Mucosa Donor 29	rectum
47	chr13:49159400-49161600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
48	chr13:49159600-49160600	Enhancers	Brain Anterior Caudate	brain
49	chr13:49159600-49160800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr13:49159600-49160800	Weak transcription	Pancreas	Pancrea

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