Variant report

Variant	rs9316404
Chromosome Location	chr13:49168747-49168748
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs4151590	0.88[AMR][1000 genomes]
rs7332631	0.93[AMR][1000 genomes]
rs7990103	0.88[AMR][1000 genomes]
rs9316390	0.93[AMR][1000 genomes]
rs9316391	0.93[AMR][1000 genomes]
rs9332025	0.93[AMR][1000 genomes]
rs9595909	0.88[AMR][1000 genomes]
rs9595910	0.88[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	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
4	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
5	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
6	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:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49161000-49169600	Weak transcription	HSMM	muscle
2	chr13:49161400-49169600	Weak transcription	Right Atrium	heart
3	chr13:49161400-49176400	Weak transcription	Right Ventricle	heart
4	chr13:49163800-49170800	Enhancers	Stomach Mucosa	stomach
5	chr13:49164000-49169800	Enhancers	HepG2	liver
6	chr13:49165000-49169600	Weak transcription	Fetal Muscle Leg	muscle
7	chr13:49165000-49169600	Weak transcription	Rectal Mucosa Donor 29	rectum
8	chr13:49165200-49169600	Weak transcription	Left Ventricle	heart
9	chr13:49165200-49169600	Weak transcription	Small Intestine	intestine
10	chr13:49165400-49169600	Weak transcription	Gastric	stomach
11	chr13:49165400-49169600	Weak transcription	Pancreas	Pancrea
12	chr13:49165400-49169600	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr13:49165400-49169600	Weak transcription	HSMMtube	muscle
14	chr13:49165600-49168800	Weak transcription	Hela-S3	cervix
15	chr13:49165600-49169600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr13:49165800-49170000	Enhancers	H1 Cell Line	embryonic stem cell
17	chr13:49166000-49170000	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr13:49166000-49170000	Enhancers	HUES64 Cell Line	embryonic stem cell
19	chr13:49166200-49173800	Weak transcription	Fetal Kidney	kidney
20	chr13:49166400-49170000	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr13:49166600-49169200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr13:49166600-49169600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr13:49166600-49169600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
24	chr13:49166800-49169000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
25	chr13:49166800-49169800	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr13:49167000-49169800	Enhancers	Duodenum Mucosa	Duodenum
27	chr13:49167400-49169800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr13:49167400-49169800	Enhancers	H9 Cell Line	embryonic stem cell
29	chr13:49167400-49170200	Enhancers	GM12878-XiMat	blood
30	chr13:49167400-49170400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr13:49167400-49170400	Enhancers	Placenta	Placenta
32	chr13:49167600-49168800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr13:49167600-49168800	Enhancers	Brain Germinal Matrix	brain
34	chr13:49167600-49169000	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
35	chr13:49167800-49169000	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr13:49167800-49169800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr13:49168000-49168800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
38	chr13:49168000-49169200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr13:49168000-49169600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
40	chr13:49168200-49169600	Weak transcription	NH-A	brain
41	chr13:49168200-49174800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr13:49168400-49168800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr13:49168400-49175000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr13:49168600-49169000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr13:49168600-49169400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr13:49168600-49170000	Enhancers	HUES48 Cell Line	embryonic stem cell
47	chr13:49168600-49170000	Weak transcription	Adipose Nuclei	Adipose
48	chr13:49168600-49170400	Enhancers	Fetal Intestine Small	intestine

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