Variant report

Variant	rs73309309
Chromosome Location	chr14:78321237-78321238
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:78319863..78321612-chr14:78326389..78328976,3	K562	blood:
2	chr14:78266405..78268003-chr14:78318869..78321312,2	K562	blood:
3	chr14:78317373..78319812-chr14:78319839..78322835,2	MCF-7	breast:
4	chr14:78265990..78268003-chr14:78318602..78321312,2	K562	blood:

Variant related genes	Relation type
ENSG00000063761	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs17106214	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58016276	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58590201	1.00[AMR][1000 genomes]
rs58620350	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59215192	1.00[AMR][1000 genomes]
rs59532454	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60806343	1.00[EUR][1000 genomes]
rs7141447	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73307387	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73307598	1.00[EUR][1000 genomes]
rs73309307	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73309329	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73313116	0.84[AFR][1000 genomes]
rs73313131	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73313136	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73313147	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73313149	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73319430	1.00[AMR][1000 genomes]
rs73319431	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73319432	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73319433	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73319436	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73319438	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73319440	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8003070	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8014573	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8020702	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8022673	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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	chr14:78293400-78331800	Weak transcription	Pancreas	Pancrea
2	chr14:78297600-78324000	Weak transcription	Ovary	ovary
3	chr14:78297600-78336600	Weak transcription	Left Ventricle	heart
4	chr14:78297800-78353600	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr14:78299000-78325200	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr14:78300000-78325400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr14:78301200-78325200	Weak transcription	Fetal Muscle Leg	muscle
8	chr14:78301400-78325200	Weak transcription	Gastric	stomach
9	chr14:78301400-78325400	Weak transcription	Lung	lung
10	chr14:78301400-78342200	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr14:78302200-78323200	Weak transcription	Right Ventricle	heart
12	chr14:78302200-78331000	Weak transcription	Liver	Liver
13	chr14:78306000-78326400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr14:78306000-78328800	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr14:78306000-78331800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr14:78306000-78356400	Weak transcription	Thymus	Thymus
17	chr14:78306600-78330400	Weak transcription	Dnd41	blood
18	chr14:78310000-78325200	Weak transcription	Brain Substantia Nigra	brain
19	chr14:78310000-78339400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr14:78310400-78345000	Weak transcription	Brain Cingulate Gyrus	brain
21	chr14:78311600-78325000	Weak transcription	Primary T cells from cord blood	blood
22	chr14:78313400-78326000	Weak transcription	Stomach Smooth Muscle	stomach
23	chr14:78314200-78348400	Weak transcription	Colon Smooth Muscle	Colon
24	chr14:78315800-78326400	Weak transcription	Fetal Heart	heart
25	chr14:78318200-78326000	Weak transcription	Brain Hippocampus Middle	brain
26	chr14:78320000-78325200	Weak transcription	Fetal Intestine Small	intestine
27	chr14:78320400-78321600	Weak transcription	K562	blood
28	chr14:78320800-78342200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr14:78321200-78321400	Enhancers	iPS-15b Cell Line	embryonic stem cell
30	chr14:78321200-78321600	Enhancers	Adipose Nuclei	Adipose
31	chr14:78321200-78321800	Enhancers	Psoas Muscle	Psoas
32	chr14:78321200-78322000	Enhancers	Skeletal Muscle Male	skeletal muscle
33	chr14:78321200-78322000	Enhancers	Skeletal Muscle Female	skeletal muscle

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