Variant report

Variant	rs4976703
Chromosome Location	chr5:177020928-177020929
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:176943414..176949809-chr5:177018256..177021226,8	MCF-7	breast:
2	chr5:176979031..176980967-chr5:177019678..177022578,2	MCF-7	breast:
3	chr5:176959784..176964247-chr5:177018558..177022874,5	MCF-7	breast:
4	chr5:176928239..176929895-chr5:177020806..177023092,2	MCF-7	breast:
5	chr5:176923095..176925209-chr5:177019148..177022259,3	MCF-7	breast:
6	chr5:177019232..177020994-chr5:177656791..177659399,2	K562	blood:
7	chr5:176942293..176944420-chr5:177019101..177021147,2	MCF-7	breast:
8	chr5:176980076..176982423-chr5:177017925..177021146,3	K562	blood:
9	chr5:177014696..177016221-chr5:177020591..177022587,2	K562	blood:
10	chr5:176936816..176938708-chr5:177019651..177022498,2	MCF-7	breast:
11	chr5:177018435..177020960-chr5:177539226..177540753,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000196923	Chromatin interaction
ENSG00000272459	Chromatin interaction
ENSG00000146067	Chromatin interaction
ENSG00000175309	Chromatin interaction
ENSG00000145911	Chromatin interaction
ENSG00000146094	Chromatin interaction
ENSG00000183258	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10045871	0.86[EUR][1000 genomes]
rs10078930	0.95[EUR][1000 genomes]
rs10479521	0.95[EUR][1000 genomes]
rs11545868	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11960689	0.89[EUR][1000 genomes]
rs12651744	0.97[EUR][1000 genomes]
rs12656594	0.86[EUR][1000 genomes]
rs28534743	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28738071	0.80[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs335487	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34705130	0.87[EUR][1000 genomes]
rs6876792	0.92[EUR][1000 genomes]
rs747861	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7710333	0.86[EUR][1000 genomes]
rs7717102	0.86[EUR][1000 genomes]
rs7720519	0.97[EUR][1000 genomes]
rs7729422	0.97[EUR][1000 genomes]
rs7731640	0.90[EUR][1000 genomes]
rs9329062	0.90[EUR][1000 genomes]
rs968406	0.96[EUR][1000 genomes];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	nsv916108	chr5:176688459-177078723	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
2	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
3	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
4	nsv1022630	chr5:176975746-177028082	Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	nsv537966	chr5:176975746-177028082	Genic enhancers Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
6	nsv883181	chr5:176978496-177034786	Bivalent/Poised TSS Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
7	nsv883182	chr5:176980995-177322056	Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
8	nsv883183	chr5:177019379-177030351	Flanking Active TSS Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:177020000-177021400	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
2	chr5:177020000-177023200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr5:177020200-177021000	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr5:177020200-177021000	Genic enhancers	Primary B cells from cord blood	blood
5	chr5:177020200-177021000	Genic enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr5:177020200-177021000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr5:177020200-177021000	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
8	chr5:177020200-177021000	Genic enhancers	Brain Hippocampus Middle	brain
9	chr5:177020200-177021000	Genic enhancers	Brain Inferior Temporal Lobe	brain
10	chr5:177020200-177021000	Genic enhancers	Brain Substantia Nigra	brain
11	chr5:177020200-177021000	Genic enhancers	Fetal Brain Female	brain
12	chr5:177020200-177021000	Genic enhancers	Fetal Muscle Leg	muscle
13	chr5:177020200-177021000	Genic enhancers	Fetal Stomach	stomach
14	chr5:177020200-177021000	Genic enhancers	Fetal Thymus	thymus
15	chr5:177020200-177021000	Transcr. at gene 5' and 3'	Hela-S3	cervix
16	chr5:177020200-177021200	Genic enhancers	Primary B cells from peripheral blood	blood
17	chr5:177020200-177021200	Genic enhancers	Brain Germinal Matrix	brain
18	chr5:177020200-177021400	Genic enhancers	Primary T cells fromperipheralblood	blood
19	chr5:177020200-177021400	Genic enhancers	Primary T killer memory cells from peripheral blood	blood
20	chr5:177020200-177021400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr5:177020200-177021400	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr5:177020200-177021800	Weak transcription	Small Intestine	intestine
23	chr5:177020400-177021000	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr5:177020400-177021000	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr5:177020400-177021000	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr5:177020400-177021000	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr5:177020400-177021000	Genic enhancers	Adipose Nuclei	Adipose
28	chr5:177020400-177021000	Genic enhancers	Liver	Liver
29	chr5:177020400-177021000	Transcr. at gene 5' and 3'	Duodenum Mucosa	Duodenum
30	chr5:177020400-177021000	Genic enhancers	Left Ventricle	heart
31	chr5:177020400-177021000	Genic enhancers	Skeletal Muscle Female	skeletal muscle
32	chr5:177020400-177021000	Transcr. at gene 5' and 3'	Dnd41	blood
33	chr5:177020400-177021000	Genic enhancers	NHDF-Ad	bronchial
34	chr5:177020400-177021000	Transcr. at gene 5' and 3'	NHLF	lung
35	chr5:177020400-177021200	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr5:177020400-177021200	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
37	chr5:177020400-177021200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr5:177020400-177021200	Genic enhancers	Brain Cingulate Gyrus	brain
39	chr5:177020400-177021200	Genic enhancers	Placenta	Placenta
40	chr5:177020400-177021200	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 29	rectum
41	chr5:177020400-177021400	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr5:177020400-177021400	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
43	chr5:177020400-177021400	Genic enhancers	Fetal Muscle Trunk	muscle
44	chr5:177020400-177021400	Transcr. at gene 5' and 3'	Pancreas	Pancrea
45	chr5:177020400-177022400	Strong transcription	Fetal Kidney	kidney
46	chr5:177020400-177022600	Genic enhancers	Gastric	stomach
47	chr5:177020400-177022600	Genic enhancers	Spleen	Spleen
48	chr5:177020400-177023600	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr5:177020400-177024000	Strong transcription	HUES48 Cell Line	embryonic stem cell
50	chr5:177020400-177024000	Strong transcription	HUES6 Cell Line	embryonic stem cell

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