Variant report

Variant	rs28370916
Chromosome Location	chr14:65346094-65346095
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:65333231..65337568-chr14:65342616..65346293,4	K562	blood:
2	chr14:65344538..65346383-chr14:65347730..65349628,3	K562	blood:
3	chr14:65326776..65328848-chr14:65344777..65346303,2	K562	blood:
4	chr14:64971440..64973382-chr14:65345698..65348415,2	MCF-7	breast:
5	chr12:57482006..57484279-chr14:65344658..65346177,2	MCF-7	breast:
6	chr14:65313975..65316632-chr14:65343546..65346097,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000089775	Chromatin interaction
ENSG00000166886	Chromatin interaction
ENSG00000126804	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10144554	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10873177	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11158564	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11628910	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1467569	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1467570	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1467571	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1467573	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1570296	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17102320	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1951490	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1951491	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1951492	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1951495	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1957427	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1957428	0.93[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs1957429	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1957431	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1957432	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1957434	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1957435	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1957436	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1998333	0.96[AFR][1000 genomes];0.86[AMR][1000 genomes];0.80[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2884308	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3813421	0.81[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs3813422	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3813423	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4899150	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4902325	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4902327	0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs59876171	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs60979440	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6573580	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6573581	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6573583	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7141985	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7143661	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7144718	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7149922	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs763346	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8008745	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8009510	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8009996	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8013772	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9783609	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][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	esv3693408	chr14:65292670-65358576	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
2	nsv516238	chr14:65327288-65358576	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
3	esv3693169	chr14:65344400-65381068	Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	esv3326676	chr14:65345624-65348172	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:65345000-65347200	Active TSS	Skeletal Muscle Female	skeletal muscle
2	chr14:65345000-65348000	Active TSS	Brain Anterior Caudate	brain
3	chr14:65345200-65346400	Bivalent Enhancer	Fetal Brain Male	brain
4	chr14:65345200-65347400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
5	chr14:65345200-65348200	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr14:65345400-65347200	Active TSS	Left Ventricle	heart
7	chr14:65345400-65347800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
8	chr14:65345400-65347800	Active TSS	Right Atrium	heart
9	chr14:65345600-65346200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
10	chr14:65345600-65346200	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr14:65345600-65346200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr14:65345600-65346200	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
13	chr14:65345600-65346200	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
14	chr14:65345600-65347000	Bivalent/Poised TSS	Stomach Smooth Muscle	stomach
15	chr14:65345600-65347600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
16	chr14:65345600-65347800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr14:65345600-65347800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr14:65345600-65347800	Active TSS	Brain Hippocampus Middle	brain
19	chr14:65345600-65347800	Active TSS	Psoas Muscle	Psoas
20	chr14:65345600-65348000	Active TSS	Brain Inferior Temporal Lobe	brain
21	chr14:65345800-65346200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr14:65345800-65346200	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
23	chr14:65345800-65346200	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
24	chr14:65345800-65346200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
25	chr14:65345800-65346200	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
26	chr14:65345800-65346200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
27	chr14:65345800-65346200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
28	chr14:65345800-65346200	Flanking Bivalent TSS/Enh	Brain Cingulate Gyrus	brain
29	chr14:65345800-65346200	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
30	chr14:65345800-65346200	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
31	chr14:65345800-65346200	Bivalent Enhancer	Fetal Lung	lung
32	chr14:65345800-65346200	Flanking Active TSS	Pancreas	Pancrea
33	chr14:65345800-65346200	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 31	rectum
34	chr14:65345800-65346200	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
35	chr14:65345800-65346400	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
36	chr14:65345800-65346400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
37	chr14:65345800-65346600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr14:65345800-65346800	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
39	chr14:65345800-65346800	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
40	chr14:65345800-65347400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
41	chr14:65345800-65347400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
42	chr14:65345800-65347600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
43	chr14:65345800-65347600	Active TSS	Brain Substantia Nigra	brain
44	chr14:65345800-65347800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
45	chr14:65345800-65347800	Active TSS	Right Ventricle	heart
46	chr14:65345800-65348000	Active TSS	Brain Angular Gyrus	brain
47	chr14:65345800-65348200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
48	chr14:65346000-65346200	Flanking Bivalent TSS/Enh	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr14:65346000-65346200	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr14:65346000-65346200	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived

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