Variant report

Variant	rs4958992
Chromosome Location	chr5:177368109-177368110
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	chr5:175625956..175628511-chr5:177366543..177368721,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000248596	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs10464113	0.83[ASN][1000 genomes]
rs10464116	0.85[ASN][1000 genomes]
rs11249783	0.85[ASN][1000 genomes]
rs11738026	0.88[ASN][1000 genomes]
rs13157329	0.82[ASN][1000 genomes]
rs13157464	0.84[ASN][1000 genomes]
rs13157845	0.85[ASN][1000 genomes]
rs13167295	0.83[ASN][1000 genomes]
rs13190413	0.85[ASN][1000 genomes]
rs4246052	0.86[ASN][1000 genomes]
rs4318803	0.95[ASN][1000 genomes]
rs4318804	0.84[ASN][1000 genomes]
rs4327608	0.83[ASN][1000 genomes]
rs4428434	0.87[ASN][1000 genomes]
rs4958942	0.81[ASN][1000 genomes]
rs4958944	0.84[ASN][1000 genomes]
rs4958945	0.85[ASN][1000 genomes]
rs4958946	0.85[ASN][1000 genomes]
rs4958947	0.85[ASN][1000 genomes]
rs4958948	0.85[ASN][1000 genomes]
rs4958980	0.81[ASN][1000 genomes]
rs4958982	0.86[ASN][1000 genomes]
rs4958983	0.93[ASN][1000 genomes]
rs4958984	0.86[ASN][1000 genomes]
rs4958991	0.84[ASN][1000 genomes]
rs4958995	0.85[ASN][1000 genomes]
rs4958999	0.85[ASN][1000 genomes]
rs4959000	0.85[ASN][1000 genomes]
rs62397831	0.85[ASN][1000 genomes]
rs62397832	0.85[ASN][1000 genomes]
rs6601187	0.91[ASN][1000 genomes]
rs6861547	0.83[ASN][1000 genomes]
rs6864280	0.84[ASN][1000 genomes]
rs6875636	0.87[ASN][1000 genomes]
rs6880829	0.85[ASN][1000 genomes]
rs6881018	0.90[ASN][1000 genomes]
rs6885392	0.81[ASN][1000 genomes]
rs6891157	0.80[ASN][1000 genomes]
rs71591890	0.85[ASN][1000 genomes]
rs7703493	0.84[ASN][1000 genomes]
rs7705931	0.85[ASN][1000 genomes]
rs7706237	0.84[ASN][1000 genomes]
rs7706255	0.84[ASN][1000 genomes]
rs7718261	0.85[ASN][1000 genomes]
rs7730346	0.85[ASN][1000 genomes]
rs7733233	0.84[ASN][1000 genomes]
rs9764398	0.93[ASN][1000 genomes]
rs9765519	0.93[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	nsv1024444	chr5:176751921-177427715	Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	142 gene(s)	inside rSNPs	diseases
2	esv2752795	chr5:176898619-177488281	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription Genic enhancers 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	78 gene(s)	inside rSNPs	diseases
3	nsv1033211	chr5:177133646-177383386	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv1030383	chr5:177310325-177571254	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
5	nsv883184	chr5:177311043-177488281	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv883185	chr5:177357964-177401509	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv521629	chr5:177364884-177396200	Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	esv3377185	chr5:177365371-177368219	Bivalent Enhancer Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:177365600-177368200	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr5:177366000-177371200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr5:177366200-177371400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr5:177366200-177371400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr5:177366400-177370600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr5:177366400-177378800	Weak transcription	Fetal Intestine Small	intestine
7	chr5:177366600-177370000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr5:177366600-177370200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr5:177366600-177371400	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr5:177366800-177368800	Weak transcription	Thymus	Thymus
11	chr5:177366800-177370200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr5:177366800-177370200	Weak transcription	Primary B cells from peripheral blood	blood
13	chr5:177366800-177370200	Weak transcription	Primary T helper cells PMA-I stimulated	--
14	chr5:177366800-177370200	Weak transcription	Primary T helper cells fromperipheralblood	blood
15	chr5:177366800-177370200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr5:177366800-177370600	Weak transcription	Primary B cells from cord blood	blood
17	chr5:177366800-177371400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr5:177366800-177371400	Weak transcription	Gastric	stomach
19	chr5:177366800-177371400	Weak transcription	Lung	lung
20	chr5:177367200-177368200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr5:177367200-177370400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr5:177367200-177370800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr5:177367200-177370800	Weak transcription	Duodenum Mucosa	Duodenum
24	chr5:177367200-177370800	Weak transcription	HMEC	breast
25	chr5:177367200-177371400	Weak transcription	NHDF-Ad	bronchial
26	chr5:177367400-177369200	Enhancers	Fetal Thymus	thymus
27	chr5:177367400-177370000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr5:177367400-177370800	Weak transcription	Liver	Liver
29	chr5:177367400-177370800	Weak transcription	Pancreas	Pancrea
30	chr5:177368000-177368200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr5:177368000-177368200	Enhancers	Left Ventricle	heart
32	chr5:177368000-177369400	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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