Variant report

Variant	rs7998488
Chromosome Location	chr13:110807935-110807936
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs630968	1.00[TSI][hapmap]
rs7325330	1.00[EUR][1000 genomes]
rs9301431	1.00[EUR][1000 genomes]
rs9301433	1.00[EUR][1000 genomes]
rs9588101	1.00[EUR][1000 genomes]
rs9588105	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1052147	chr13:110765635-110917782	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
2	nsv901007	chr13:110793123-110813709	Strong transcription Weak transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region miRNA target site	n/a	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:110791200-110811600	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr13:110791200-110811800	Weak transcription	Right Atrium	heart
3	chr13:110791200-110825600	Weak transcription	Esophagus	oesophagus
4	chr13:110791400-110812800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr13:110791400-110813400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr13:110791400-110820800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr13:110791400-110825800	Weak transcription	A549	lung
8	chr13:110791400-110868400	Weak transcription	Psoas Muscle	Psoas
9	chr13:110795800-110826000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr13:110796000-110809200	Weak transcription	Brain Hippocampus Middle	brain
11	chr13:110797800-110809200	Strong transcription	Stomach Smooth Muscle	stomach
12	chr13:110798200-110808600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr13:110798400-110825400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr13:110798600-110808200	Strong transcription	Aorta	Aorta
15	chr13:110798800-110825600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr13:110798800-110853200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr13:110799000-110821200	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr13:110799600-110840200	Strong transcription	Duodenum Smooth Muscle	Duodenum
19	chr13:110799800-110811600	Strong transcription	Left Ventricle	heart
20	chr13:110800000-110810400	Strong transcription	HUVEC	blood vessel
21	chr13:110800000-110824800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr13:110800000-110825800	Strong transcription	Ovary	ovary
23	chr13:110800200-110837800	Strong transcription	NH-A	brain
24	chr13:110800600-110809000	Strong transcription	Right Ventricle	heart
25	chr13:110800600-110834200	Weak transcription	Duodenum Mucosa	Duodenum
26	chr13:110800800-110808600	Strong transcription	Cortex derived primary cultured neurospheres	brain
27	chr13:110800800-110821800	Strong transcription	Placenta	Placenta
28	chr13:110801000-110809600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr13:110801000-110818400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr13:110801000-110822600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr13:110801400-110808800	Strong transcription	Fetal Lung	lung
32	chr13:110802400-110808000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr13:110802400-110822000	Strong transcription	Colon Smooth Muscle	Colon
34	chr13:110802400-110842800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr13:110802600-110808400	Strong transcription	Fetal Stomach	stomach
36	chr13:110802800-110808800	Strong transcription	Fetal Intestine Small	intestine
37	chr13:110803000-110822000	Weak transcription	Small Intestine	intestine
38	chr13:110803000-110834200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr13:110803000-110840400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr13:110803200-110808600	Weak transcription	Fetal Heart	heart
41	chr13:110803200-110811600	Strong transcription	HSMM	muscle
42	chr13:110803200-110815800	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr13:110803200-110826000	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr13:110803200-110839800	Weak transcription	NHDF-Ad	bronchial
45	chr13:110803200-110839800	Strong transcription	Osteobl	bone
46	chr13:110803600-110840000	Strong transcription	Muscle Satellite Cultured Cells	--
47	chr13:110804000-110808400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr13:110804000-110813200	Weak transcription	H9 Cell Line	embryonic stem cell
49	chr13:110804000-110825800	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr13:110804200-110808200	Strong transcription	Fetal Muscle Trunk	muscle

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