Variant report

Variant	rs72688836
Chromosome Location	chr14:78282702-78282703
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11621593	0.92[ASN][1000 genomes]
rs11850235	0.92[ASN][1000 genomes]
rs1985149	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2003594	0.92[ASN][1000 genomes]
rs2111829	0.92[ASN][1000 genomes]
rs28393221	0.84[ASN][1000 genomes]
rs56339806	0.92[ASN][1000 genomes]
rs6493	0.92[ASN][1000 genomes]
rs7151836	0.92[ASN][1000 genomes]
rs72685236	0.92[ASN][1000 genomes]
rs72685238	0.92[ASN][1000 genomes]
rs72685246	0.92[ASN][1000 genomes]
rs72685267	0.92[ASN][1000 genomes]
rs72685297	0.92[ASN][1000 genomes]
rs72685302	0.92[ASN][1000 genomes]
rs72687223	0.92[ASN][1000 genomes]
rs72687241	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72687247	0.92[ASN][1000 genomes]
rs72687256	0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72688829	0.92[ASN][1000 genomes]
rs7492501	0.92[ASN][1000 genomes]
rs8015796	0.92[ASN][1000 genomes]
rs8015938	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1043788	chr14:78178490-78381190	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:78267200-78284800	Weak transcription	Brain Angular Gyrus	brain
2	chr14:78267200-78285200	Weak transcription	Colon Smooth Muscle	Colon
3	chr14:78267200-78285200	Weak transcription	Fetal Stomach	stomach
4	chr14:78267200-78285400	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr14:78267200-78285400	Weak transcription	Lung	lung
6	chr14:78267200-78288200	Weak transcription	Spleen	Spleen
7	chr14:78267200-78288800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr14:78267200-78304200	Weak transcription	HSMMtube	muscle
9	chr14:78267200-78310800	Weak transcription	Esophagus	oesophagus
10	chr14:78267400-78285000	Weak transcription	Brain Hippocampus Middle	brain
11	chr14:78267400-78285000	Weak transcription	Stomach Smooth Muscle	stomach
12	chr14:78267400-78285200	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr14:78267400-78285400	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr14:78267600-78285000	Weak transcription	Primary T cells from cord blood	blood
15	chr14:78267600-78285400	Weak transcription	Brain Substantia Nigra	brain
16	chr14:78267800-78285400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr14:78270800-78288400	Weak transcription	Fetal Intestine Small	intestine
18	chr14:78270800-78288800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr14:78272400-78285200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr14:78273000-78285400	Weak transcription	Psoas Muscle	Psoas
21	chr14:78273400-78285200	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr14:78273400-78285400	Weak transcription	Left Ventricle	heart
23	chr14:78274800-78316600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr14:78279400-78285400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr14:78280000-78287600	Weak transcription	K562	blood
26	chr14:78280600-78285600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr14:78280800-78285400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr14:78281200-78285400	Weak transcription	Fetal Muscle Trunk	muscle
29	chr14:78281600-78285200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr14:78282000-78285200	Weak transcription	Aorta	Aorta
31	chr14:78282000-78285200	Weak transcription	Dnd41	blood
32	chr14:78282400-78285400	Weak transcription	Right Ventricle	heart
33	chr14:78282600-78282800	Enhancers	Pancreas	Pancrea

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