Variant report

Variant	rs4902483
Chromosome Location	chr14:68016698-68016699
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:68010446..68012752-chr14:68015925..68018334,2	K562	blood:
2	chr14:68014401..68017427-chr14:68018480..68021276,3	MCF-7	breast:
3	chr14:67998037..68001825-chr14:68010687..68017336,14	MCF-7	breast:
4	chr14:68015069..68017219-chr14:68019701..68021825,3	MCF-7	breast:
5	chr14:67998658..68003192-chr14:68011960..68016851,11	MCF-7	breast:
6	chr14:68009818..68011946-chr14:68016473..68018334,2	K562	blood:
7	chr14:67999322..68002046-chr14:68016640..68019251,3	K562	blood:

Variant related genes	Relation type
ENSG00000198133	Chromatin interaction
ENSG00000054690	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10873205	0.83[AMR][1000 genomes]
rs11158681	1.00[CEU][hapmap];0.87[JPT][hapmap];0.90[YRI][hapmap];0.85[AFR][1000 genomes];0.98[EUR][1000 genomes]
rs11158682	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11158683	0.83[AFR][1000 genomes];0.96[EUR][1000 genomes]
rs11158684	1.00[CEU][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.99[EUR][1000 genomes]
rs12434659	0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17782224	0.83[CEU][hapmap]
rs2064929	0.92[CEU][hapmap];0.91[JPT][hapmap];0.97[EUR][1000 genomes]
rs4144498	0.82[YRI][hapmap]
rs4902478	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4902479	1.00[CEU][hapmap];0.91[CHB][hapmap];0.95[JPT][hapmap];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4902482	0.92[CEU][hapmap];0.86[JPT][hapmap];0.93[YRI][hapmap];0.97[EUR][1000 genomes]
rs4902484	0.97[EUR][1000 genomes]
rs4902486	0.92[EUR][1000 genomes]
rs6573780	0.92[CEU][hapmap];0.91[JPT][hapmap];0.97[EUR][1000 genomes]
rs7141506	0.86[AMR][1000 genomes]
rs7147529	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[YRI][hapmap];0.83[AFR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7154636	0.87[EUR][1000 genomes]
rs7155887	0.84[EUR][1000 genomes]
rs753683	0.87[CEU][hapmap]

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	nsv456331	chr14:67732861-68103780	Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv564961	chr14:67732861-68103780	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv470651	chr14:67732861-68113293	Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv902066	chr14:67873128-68103780	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68000400-68044000	Weak transcription	Spleen	Spleen
2	chr14:68001000-68024400	Weak transcription	Stomach Smooth Muscle	stomach
3	chr14:68001400-68028400	Weak transcription	Brain Germinal Matrix	brain
4	chr14:68001800-68023600	Weak transcription	HepG2	liver
5	chr14:68002000-68065800	Weak transcription	Fetal Brain Male	brain
6	chr14:68003200-68039800	Weak transcription	Fetal Kidney	kidney
7	chr14:68005400-68018200	Weak transcription	Skeletal Muscle Male	skeletal muscle
8	chr14:68005600-68023600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr14:68005800-68042400	Weak transcription	NHEK	skin
10	chr14:68008800-68052200	Weak transcription	Left Ventricle	heart
11	chr14:68009000-68022400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
12	chr14:68009000-68024800	Weak transcription	Gastric	stomach
13	chr14:68009000-68044800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr14:68009000-68050400	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr14:68009200-68020200	Weak transcription	Stomach Mucosa	stomach
16	chr14:68009200-68023800	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr14:68009200-68024000	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr14:68009200-68024600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr14:68009200-68040400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr14:68009200-68045200	Weak transcription	Rectal Smooth Muscle	rectum
21	chr14:68010200-68036400	Weak transcription	Small Intestine	intestine
22	chr14:68010800-68018600	Weak transcription	Psoas Muscle	Psoas
23	chr14:68011800-68045000	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr14:68011800-68054600	Weak transcription	Hela-S3	cervix
25	chr14:68012000-68029200	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr14:68012000-68033000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr14:68012000-68045000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr14:68012400-68025600	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr14:68012400-68026200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
30	chr14:68012400-68028200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr14:68012400-68028600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr14:68012800-68026200	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr14:68013200-68023600	Strong transcription	Fetal Intestine Small	intestine
34	chr14:68013400-68052600	Weak transcription	Aorta	Aorta
35	chr14:68013600-68017000	Strong transcription	Fetal Intestine Large	intestine
36	chr14:68014000-68017600	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr14:68014000-68024600	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr14:68014200-68017000	Strong transcription	Brain Inferior Temporal Lobe	brain
39	chr14:68014200-68018600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr14:68014400-68017400	Strong transcription	Brain Anterior Caudate	brain
41	chr14:68014400-68018600	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr14:68014400-68019000	Weak transcription	Fetal Stomach	stomach
43	chr14:68014400-68020400	Weak transcription	Pancreas	Pancrea
44	chr14:68014400-68024800	Weak transcription	Esophagus	oesophagus
45	chr14:68014400-68036200	Weak transcription	Colonic Mucosa	Colon
46	chr14:68014600-68017800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr14:68014600-68021000	Weak transcription	Fetal Brain Female	brain
48	chr14:68014800-68020200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr14:68014800-68022600	Weak transcription	Placenta	Placenta
50	chr14:68016000-68033000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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