Variant report

Variant	rs2112130
Chromosome Location	chr14:78320160-78320161
allele	C/T
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: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10131632	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs10134142	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10135517	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11159295	0.96[ASN][1000 genomes]
rs11848126	0.88[AFR][1000 genomes];0.80[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs17106478	0.92[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs28613643	0.92[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs7158755	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7160485	0.92[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs8005023	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs8005040	0.86[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs8008978	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8011687	0.84[ASN][1000 genomes]
rs8015122	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8015596	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];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	esv3368695	chr14:78318049-78320447	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:27 , 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	chr14:78303000-78321200	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr14:78306000-78326400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr14:78306000-78328800	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr14:78306000-78331800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr14:78306000-78356400	Weak transcription	Thymus	Thymus
18	chr14:78306600-78330400	Weak transcription	Dnd41	blood
19	chr14:78310000-78325200	Weak transcription	Brain Substantia Nigra	brain
20	chr14:78310000-78339400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr14:78310400-78345000	Weak transcription	Brain Cingulate Gyrus	brain
22	chr14:78311600-78325000	Weak transcription	Primary T cells from cord blood	blood
23	chr14:78313400-78326000	Weak transcription	Stomach Smooth Muscle	stomach
24	chr14:78314200-78348400	Weak transcription	Colon Smooth Muscle	Colon
25	chr14:78315800-78326400	Weak transcription	Fetal Heart	heart
26	chr14:78318200-78326000	Weak transcription	Brain Hippocampus Middle	brain
27	chr14:78320000-78325200	Weak transcription	Fetal Intestine Small	intestine

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