Variant report

Variant	rs73277473
Chromosome Location	chr14:39769607-39769608
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:39637549..39640263-chr14:39768820..39771005,2	MCF-7	breast:
2	chr14:39653217..39654997-chr14:39768154..39769847,2	K562	blood:

Variant related genes	Relation type
ENSG00000182400	Chromatin interaction

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs17109174	0.81[AFR][1000 genomes]
rs17109188	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17109213	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17109227	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17109249	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17109258	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17109293	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17109318	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34909359	1.00[AMR][1000 genomes]
rs56859252	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57012657	1.00[AMR][1000 genomes]
rs57430547	1.00[AMR][1000 genomes]
rs57569191	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58371839	1.00[AMR][1000 genomes]
rs58889517	1.00[AMR][1000 genomes]
rs59371684	1.00[AMR][1000 genomes]
rs59546917	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59597680	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59953702	1.00[AMR][1000 genomes]
rs60367463	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60601774	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60921042	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61176483	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61549948	1.00[AMR][1000 genomes]
rs61668966	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7148519	1.00[AMR][1000 genomes]
rs73275040	1.00[AMR][1000 genomes]
rs73275059	1.00[AMR][1000 genomes]
rs73275062	1.00[AMR][1000 genomes]
rs73275075	1.00[AMR][1000 genomes]
rs73275076	1.00[AMR][1000 genomes]
rs73277428	1.00[AMR][1000 genomes]
rs73277432	1.00[AMR][1000 genomes]
rs73277440	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73277451	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73277466	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73277467	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73277471	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73277474	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73277475	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73277478	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73277496	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73277499	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73277501	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73279309	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73279392	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73283432	1.00[AMR][1000 genomes]
rs73283442	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73283453	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73285541	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73285564	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73285569	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73285591	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73285598	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73285599	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73287518	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73287521	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73287541	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73287554	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73287555	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73287560	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73287572	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73287574	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73287602	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73291562	1.00[AMR][1000 genomes]
rs73291565	1.00[AMR][1000 genomes]
rs73291581	1.00[AMR][1000 genomes]
rs73291596	1.00[AMR][1000 genomes]
rs73291598	1.00[AMR][1000 genomes]
rs73291685	1.00[AMR][1000 genomes]
rs73293309	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053133	chr14:39657535-39770729	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1037183	chr14:39736939-39949233	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv542048	chr14:39736939-39949233	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv977461	chr14:39762414-39770640	Weak transcription Strong transcription	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39738200-39813800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr14:39744600-39769800	Weak transcription	Pancreas	Pancrea
3	chr14:39746200-39776600	Weak transcription	K562	blood
4	chr14:39746400-39771200	Weak transcription	Fetal Heart	heart
5	chr14:39749400-39785400	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr14:39749600-39771200	Weak transcription	Fetal Kidney	kidney
7	chr14:39752600-39808200	Weak transcription	Stomach Mucosa	stomach
8	chr14:39755400-39775800	Strong transcription	Primary neutrophils fromperipheralblood	blood
9	chr14:39755400-39783400	Strong transcription	Liver	Liver
10	chr14:39755600-39780400	Strong transcription	HepG2	liver
11	chr14:39755600-39797200	Strong transcription	Monocytes-CD14+_RO01746	blood
12	chr14:39756000-39788600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr14:39756200-39776000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr14:39756200-39828400	Weak transcription	Brain Germinal Matrix	brain
15	chr14:39756400-39773200	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr14:39756400-39774000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr14:39756600-39819600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr14:39756800-39771200	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr14:39756800-39797800	Strong transcription	Primary monocytes fromperipheralblood	blood
20	chr14:39757000-39783400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr14:39757200-39773800	Strong transcription	Primary T helper cells fromperipheralblood	blood
22	chr14:39757400-39771200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr14:39757400-39796000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr14:39757400-39843800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr14:39759400-39770200	Weak transcription	Colonic Mucosa	Colon
26	chr14:39759400-39801800	Weak transcription	NHLF	lung
27	chr14:39760000-39775800	Strong transcription	Primary T helper cells PMA-I stimulated	--
28	chr14:39760800-39771200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr14:39761000-39775200	Strong transcription	Primary B cells from peripheral blood	blood
30	chr14:39761600-39773400	Strong transcription	Fetal Intestine Large	intestine
31	chr14:39761800-39771800	Strong transcription	Rectal Mucosa Donor 29	rectum
32	chr14:39762200-39774200	Strong transcription	Duodenum Mucosa	Duodenum
33	chr14:39762400-39801600	Weak transcription	Fetal Brain Male	brain
34	chr14:39762600-39772600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
35	chr14:39762600-39774400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr14:39763200-39772200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr14:39763400-39770600	Strong transcription	Fetal Intestine Small	intestine
38	chr14:39763400-39771600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr14:39763400-39772200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr14:39763400-39776000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr14:39763600-39770600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr14:39763800-39772200	Strong transcription	Rectal Mucosa Donor 31	rectum
43	chr14:39763800-39772600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr14:39764000-39786200	Weak transcription	Brain Substantia Nigra	brain
45	chr14:39764400-39785400	Weak transcription	Esophagus	oesophagus
46	chr14:39764600-39770600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
47	chr14:39764600-39771800	Weak transcription	HSMMtube	muscle
48	chr14:39764600-39785600	Weak transcription	Gastric	stomach
49	chr14:39764600-39785600	Weak transcription	Psoas Muscle	Psoas
50	chr14:39764600-39790000	Weak transcription	Fetal Brain Female	brain

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