Variant report

Variant	rs28393221
Chromosome Location	chr14:78125996-78125997
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:78125349..78126859-chr14:78170133..78172097,2	K562	blood:
2	chr14:78124444..78126288-chr14:78139672..78142055,2	K562	blood:
3	chr11:63997554..63998377-chr14:78125701..78126201,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000110011	Chromatin interaction
ENSG00000100601	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10483884	0.94[EUR][1000 genomes]
rs11621593	0.92[ASN][1000 genomes]
rs11850235	0.92[ASN][1000 genomes]
rs1985149	0.92[ASN][1000 genomes]
rs2003594	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2111829	0.92[ASN][1000 genomes]
rs28541608	0.84[AFR][1000 genomes]
rs55734921	0.97[EUR][1000 genomes]
rs56065232	0.84[AFR][1000 genomes]
rs56339806	0.92[ASN][1000 genomes]
rs6493	0.92[ASN][1000 genomes]
rs7151836	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72685236	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72685238	0.92[ASN][1000 genomes]
rs72685246	0.92[ASN][1000 genomes]
rs72685267	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72685288	0.84[EUR][1000 genomes]
rs72685297	0.92[ASN][1000 genomes]
rs72685302	0.92[ASN][1000 genomes]
rs72687223	0.92[ASN][1000 genomes]
rs72687241	0.92[ASN][1000 genomes]
rs72687247	0.92[ASN][1000 genomes]
rs72687256	0.92[ASN][1000 genomes]
rs72688829	0.92[ASN][1000 genomes]
rs72688836	0.84[ASN][1000 genomes]
rs7492501	0.92[ASN][1000 genomes]
rs8015796	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8015938	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053810	chr14:77987871-78148320	Genic enhancers Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	esv2758362	chr14:78074180-78262572	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	esv2759998	chr14:78074180-78262572	Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	esv2757575	chr14:78104897-78212462	Strong transcription Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	esv34940	chr14:78104897-78222798	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	nsv521287	chr14:78108003-78211225	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
7	nsv9155	chr14:78118162-78133830	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv869872	chr14:78119527-78161340	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:78120200-78127600	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr14:78120600-78126200	Weak transcription	Fetal Brain Female	brain
3	chr14:78120600-78126800	Enhancers	Primary neutrophils fromperipheralblood	blood
4	chr14:78120600-78138200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr14:78121400-78126400	Weak transcription	Fetal Brain Male	brain
6	chr14:78121400-78126600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
7	chr14:78121400-78126600	Weak transcription	Brain Hippocampus Middle	brain
8	chr14:78121400-78129800	Weak transcription	Right Atrium	heart
9	chr14:78121400-78139800	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr14:78121800-78126000	Weak transcription	Primary B cells from cord blood	blood
11	chr14:78121800-78126400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr14:78121800-78126400	Weak transcription	Brain Anterior Caudate	brain
13	chr14:78121800-78126600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr14:78121800-78126600	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr14:78121800-78126600	Weak transcription	Duodenum Mucosa	Duodenum
16	chr14:78121800-78127600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr14:78121800-78139800	Weak transcription	Gastric	stomach
18	chr14:78122000-78126400	Weak transcription	Brain Germinal Matrix	brain
19	chr14:78122000-78126400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr14:78122000-78127200	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr14:78122000-78127200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr14:78122000-78127200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr14:78122000-78139600	Weak transcription	Fetal Intestine Large	intestine
24	chr14:78122000-78139800	Weak transcription	Pancreas	Pancrea
25	chr14:78122200-78126600	Weak transcription	Cortex derived primary cultured neurospheres	brain
26	chr14:78122200-78127000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr14:78122400-78126400	Enhancers	Primary monocytes fromperipheralblood	blood
28	chr14:78123000-78137400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr14:78123200-78126400	Weak transcription	HepG2	liver
30	chr14:78123400-78138800	Weak transcription	Liver	Liver
31	chr14:78123800-78126600	Weak transcription	Spleen	Spleen
32	chr14:78123800-78136600	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr14:78123800-78139000	Weak transcription	Left Ventricle	heart
34	chr14:78124000-78129400	Weak transcription	HUVEC	blood vessel
35	chr14:78124200-78126000	Enhancers	Monocytes-CD14+_RO01746	blood
36	chr14:78125200-78127400	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr14:78125400-78126600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr14:78125400-78126600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr14:78125400-78126600	Weak transcription	Lung	lung
40	chr14:78125400-78127000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr14:78125400-78127200	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr14:78125400-78127400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr14:78125400-78139800	Weak transcription	Right Ventricle	heart
44	chr14:78125600-78127200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell

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