Variant report

Variant	rs55788541
Chromosome Location	chr14:31514996-31514997
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	chr14:31493905..31497521-chr14:31514684..31517822,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000196792	Chromatin interaction
ENSG00000100478	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11624437	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11628852	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11628884	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12148037	0.82[ASN][1000 genomes]
rs12892054	0.99[ASN][1000 genomes]
rs12892778	0.97[ASN][1000 genomes]
rs12895788	0.97[ASN][1000 genomes]
rs12896059	0.97[ASN][1000 genomes]
rs12897532	0.97[ASN][1000 genomes]
rs17097688	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17097735	0.80[EUR][1000 genomes]
rs17097743	0.80[EUR][1000 genomes]
rs2180610	0.97[ASN][1000 genomes]
rs34671063	0.99[ASN][1000 genomes]
rs3784161	0.82[ASN][1000 genomes]
rs55907561	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58204331	0.80[EUR][1000 genomes]
rs58771204	0.92[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs72670320	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs72670323	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72670334	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8010129	0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv564169	chr14:30819087-31541494	Strong transcription Genic enhancers ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv901581	chr14:30978745-31585289	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv1035937	chr14:31447842-31579660	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv542018	chr14:31447842-31579660	Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv1048736	chr14:31447842-31624912	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv1049063	chr14:31473521-31622741	Weak transcription Strong transcription Active TSS Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	nsv901587	chr14:31501505-31752664	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
8	nsv832763	chr14:31501597-31680021	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
9	nsv1050054	chr14:31501703-31733642	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer 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	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31496600-31515800	Weak transcription	Thymus	Thymus
2	chr14:31496800-31517600	Weak transcription	Left Ventricle	heart
3	chr14:31496800-31517800	Weak transcription	Brain Hippocampus Middle	brain
4	chr14:31496800-31517800	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr14:31496800-31522400	Weak transcription	Right Atrium	heart
6	chr14:31496800-31527600	Weak transcription	Primary B cells from peripheral blood	blood
7	chr14:31497000-31568600	Weak transcription	Fetal Kidney	kidney
8	chr14:31497600-31552800	Weak transcription	Fetal Muscle Trunk	muscle
9	chr14:31501200-31523400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
10	chr14:31501200-31527400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr14:31501200-31544200	Weak transcription	Primary B cells from cord blood	blood
12	chr14:31501200-31550000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr14:31503400-31520400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr14:31503400-31528400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr14:31503600-31517600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr14:31507000-31537600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr14:31507200-31539200	Weak transcription	Fetal Stomach	stomach
18	chr14:31507800-31527600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr14:31507800-31549600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr14:31508000-31538400	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr14:31508200-31517600	Weak transcription	NHEK	skin
22	chr14:31508200-31537600	Weak transcription	Primary T cells from cord blood	blood
23	chr14:31508400-31519800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr14:31508600-31522200	Weak transcription	Fetal Intestine Small	intestine
25	chr14:31508600-31522400	Weak transcription	Pancreas	Pancrea
26	chr14:31508800-31517600	Weak transcription	Hela-S3	cervix
27	chr14:31508800-31517600	Weak transcription	HepG2	liver
28	chr14:31510000-31524600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr14:31512800-31526400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
30	chr14:31513200-31516400	Weak transcription	A549	lung
31	chr14:31513200-31517000	Weak transcription	K562	blood
32	chr14:31514800-31515200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr14:31514800-31516600	Weak transcription	Esophagus	oesophagus

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