Variant report

Variant	rs72673307
Chromosome Location	chr14:39568109-39568110
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:39566766..39569624-chr14:39570673..39572587,4	MCF-7	breast:
2	chr14:39552215..39554960-chr14:39566329..39568969,2	K562	blood:
3	chr14:39565825..39569831-chr14:39570410..39572349,3	MCF-7	breast:
4	chr14:39561268..39563684-chr14:39566642..39569170,2	K562	blood:
5	chr14:39565900..39568823-chr14:39571279..39573305,2	K562	blood:

Variant related genes	Relation type
ENSG00000100934	Chromatin interaction
ENSG00000258651	Chromatin interaction

Extended variants
information (count: 55 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs17108815	0.90[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs45469795	0.88[EUR][1000 genomes]
rs45540035	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55790340	0.88[EUR][1000 genomes]
rs55997577	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56063785	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56074634	0.87[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs56087094	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56103446	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56125789	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56136756	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56225465	0.81[EUR][1000 genomes]
rs56237815	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56328886	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56333870	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56334607	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56335002	0.87[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs56341545	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57248532	0.88[EUR][1000 genomes]
rs59418195	0.80[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs67808375	0.88[EUR][1000 genomes]
rs7148908	0.88[EUR][1000 genomes]
rs7150638	0.92[EUR][1000 genomes]
rs72669383	1.00[ASN][1000 genomes]
rs72669388	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72669397	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72669400	1.00[ASN][1000 genomes]
rs72671307	1.00[ASN][1000 genomes]
rs72671311	1.00[ASN][1000 genomes]
rs72671316	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72671332	1.00[ASN][1000 genomes]
rs72671333	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72671344	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72671349	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72671353	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72671360	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72671362	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72671367	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72671372	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72671379	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72671382	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72671387	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72671398	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72671400	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72673314	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72673315	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72673316	0.88[EUR][1000 genomes]
rs72673317	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs72673318	0.85[EUR][1000 genomes]
rs72673328	0.83[EUR][1000 genomes]
rs72673329	0.83[EUR][1000 genomes]
rs72673339	0.83[EUR][1000 genomes]
rs8009457	0.81[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	esv3429206	chr14:39160730-39648836	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv1038622	chr14:39423562-39604035	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39531200-39569200	Weak transcription	Stomach Mucosa	stomach
2	chr14:39554200-39571200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr14:39554800-39571600	Weak transcription	K562	blood
4	chr14:39555200-39571600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr14:39555800-39569000	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr14:39558800-39571400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr14:39560200-39569400	Weak transcription	Spleen	Spleen
8	chr14:39560200-39569800	Weak transcription	Pancreas	Pancrea
9	chr14:39560200-39571000	Weak transcription	Aorta	Aorta
10	chr14:39560400-39571400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr14:39560400-39571600	Weak transcription	Esophagus	oesophagus
12	chr14:39560400-39571600	Weak transcription	Gastric	stomach
13	chr14:39561000-39570600	Weak transcription	Lung	lung
14	chr14:39561000-39571200	Weak transcription	Colonic Mucosa	Colon
15	chr14:39561000-39571400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr14:39561000-39571400	Weak transcription	Psoas Muscle	Psoas
17	chr14:39561400-39569200	Weak transcription	Fetal Brain Male	brain
18	chr14:39561600-39569000	Weak transcription	Brain Cingulate Gyrus	brain
19	chr14:39561600-39571200	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr14:39561600-39571400	Weak transcription	Brain Hippocampus Middle	brain
21	chr14:39561600-39571600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr14:39563400-39571600	Weak transcription	Thymus	Thymus
23	chr14:39564000-39571200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr14:39564200-39568800	Weak transcription	Hela-S3	cervix
25	chr14:39564400-39569200	Weak transcription	HMEC	breast
26	chr14:39564400-39570400	Weak transcription	Fetal Brain Female	brain
27	chr14:39564400-39571000	Weak transcription	Brain Angular Gyrus	brain
28	chr14:39564400-39571400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr14:39564400-39571400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr14:39564600-39569000	Weak transcription	Colon Smooth Muscle	Colon
31	chr14:39564600-39571000	Weak transcription	HSMMtube	muscle
32	chr14:39564600-39571400	Weak transcription	Primary hematopoietic stem cells	blood
33	chr14:39564800-39571000	Weak transcription	Brain Substantia Nigra	brain
34	chr14:39564800-39571200	Weak transcription	Fetal Thymus	thymus
35	chr14:39564800-39571200	Weak transcription	Rectal Smooth Muscle	rectum
36	chr14:39564800-39571200	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr14:39564800-39571400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
38	chr14:39565000-39568600	Weak transcription	Brain Germinal Matrix	brain
39	chr14:39565000-39569200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr14:39565000-39571000	Weak transcription	Stomach Smooth Muscle	stomach
41	chr14:39565000-39571400	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr14:39565000-39571600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr14:39565000-39571600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
44	chr14:39565200-39570800	Weak transcription	Primary B cells from cord blood	blood
45	chr14:39565200-39570800	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr14:39565200-39571000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr14:39565200-39571000	Weak transcription	HSMM	muscle
48	chr14:39565400-39568600	Weak transcription	Duodenum Mucosa	Duodenum
49	chr14:39565400-39569000	Weak transcription	Adipose Nuclei	Adipose
50	chr14:39565400-39569000	Weak transcription	Liver	Liver

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