Variant report

Variant	rs72688829
Chromosome Location	chr14:78272235-78272236
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:78265266..78267437-chr14:78271460..78273740,2	K562	blood:
2	chr14:78266261..78268585-chr14:78272111..78274515,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000063761	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs11621593	0.84[AFR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11850235	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1985149	1.00[ASN][1000 genomes]
rs2003594	1.00[ASN][1000 genomes]
rs2111829	0.82[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28393221	0.92[ASN][1000 genomes]
rs56339806	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58171071	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs6493	1.00[ASN][1000 genomes]
rs7151836	1.00[ASN][1000 genomes]
rs72685236	1.00[ASN][1000 genomes]
rs72685238	1.00[ASN][1000 genomes]
rs72685246	1.00[ASN][1000 genomes]
rs72685267	1.00[ASN][1000 genomes]
rs72685297	0.84[AFR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72685302	0.84[AFR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72687223	0.84[AFR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72687241	1.00[ASN][1000 genomes]
rs72687247	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72687256	1.00[ASN][1000 genomes]
rs72688836	0.92[ASN][1000 genomes]
rs7492501	1.00[ASN][1000 genomes]
rs8015796	1.00[ASN][1000 genomes]
rs8015938	1.00[ASN][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	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
2	esv2754594	chr14:78222798-78275549	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:78267200-78272400	Weak transcription	Left Ventricle	heart
2	chr14:78267200-78284800	Weak transcription	Brain Angular Gyrus	brain
3	chr14:78267200-78285200	Weak transcription	Colon Smooth Muscle	Colon
4	chr14:78267200-78285200	Weak transcription	Fetal Stomach	stomach
5	chr14:78267200-78285400	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr14:78267200-78285400	Weak transcription	Lung	lung
7	chr14:78267200-78288200	Weak transcription	Spleen	Spleen
8	chr14:78267200-78288800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr14:78267200-78304200	Weak transcription	HSMMtube	muscle
10	chr14:78267200-78310800	Weak transcription	Esophagus	oesophagus
11	chr14:78267400-78272800	Weak transcription	Stomach Mucosa	stomach
12	chr14:78267400-78285000	Weak transcription	Brain Hippocampus Middle	brain
13	chr14:78267400-78285000	Weak transcription	Stomach Smooth Muscle	stomach
14	chr14:78267400-78285200	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr14:78267400-78285400	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr14:78267600-78285000	Weak transcription	Primary T cells from cord blood	blood
17	chr14:78267600-78285400	Weak transcription	Brain Substantia Nigra	brain
18	chr14:78267800-78285400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
19	chr14:78268800-78272600	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr14:78268800-78272800	Weak transcription	Skeletal Muscle Female	skeletal muscle
21	chr14:78269800-78274400	Weak transcription	K562	blood
22	chr14:78270000-78272400	Weak transcription	Psoas Muscle	Psoas
23	chr14:78270800-78288400	Weak transcription	Fetal Intestine Small	intestine
24	chr14:78270800-78288800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr14:78271800-78272400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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