Variant report

Variant	rs10030548
Chromosome Location	chr4:119209505-119209506
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	chr4:119208423..119210382-chr4:119267375..119269771,2	MCF-7	breast:

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10002349	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs10002475	1.00[YRI][hapmap]
rs10003730	1.00[AMR][1000 genomes]
rs10019302	1.00[AFR][1000 genomes]
rs10026690	1.00[AMR][1000 genomes]
rs10032705	0.87[AFR][1000 genomes]
rs10033678	1.00[YRI][hapmap]
rs10212745	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs13434557	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs28376814	1.00[AFR][1000 genomes]
rs28421210	0.87[AFR][1000 genomes]
rs28451256	1.00[AFR][1000 genomes]
rs28527406	1.00[AMR][1000 genomes]
rs28579325	0.87[AFR][1000 genomes]
rs28582030	1.00[AFR][1000 genomes]
rs28585079	0.89[AFR][1000 genomes]
rs28610040	1.00[AFR][1000 genomes]
rs28625175	1.00[AMR][1000 genomes]
rs28630407	1.00[AMR][1000 genomes]
rs28634343	1.00[AFR][1000 genomes]
rs28656407	1.00[AMR][1000 genomes]
rs28667866	1.00[AFR][1000 genomes]
rs28697099	1.00[AMR][1000 genomes]
rs28713634	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28735538	1.00[AFR][1000 genomes]
rs28753764	1.00[AMR][1000 genomes]
rs28847022	1.00[AMR][1000 genomes]
rs9307456	1.00[YRI][hapmap]
rs9993556	1.00[AMR][1000 genomes]
rs9994181	1.00[YRI][hapmap];1.00[AFR][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	nsv519017	chr4:118828807-119771481	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats 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	39 gene(s)	inside rSNPs	diseases
2	nsv1009076	chr4:118949490-119269424	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv1001236	chr4:118949490-119271243	Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	esv34038	chr4:119035124-119455391	Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	nsv1001138	chr4:119095147-119461837	Active TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv537230	chr4:119095147-119461837	Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	nsv1002771	chr4:119125361-119571237	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
8	nsv1003731	chr4:119138262-119506032	Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
9	esv1794655	chr4:119170156-119212103	Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:119200800-119212800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr4:119201400-119216200	Weak transcription	Lung	lung
3	chr4:119201400-119223800	Weak transcription	Gastric	stomach
4	chr4:119202200-119210800	Weak transcription	Brain Angular Gyrus	brain
5	chr4:119202200-119211600	Weak transcription	Brain Germinal Matrix	brain
6	chr4:119202200-119225000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr4:119202400-119220800	Weak transcription	Fetal Brain Female	brain
8	chr4:119202800-119267200	Weak transcription	Stomach Mucosa	stomach
9	chr4:119203000-119210600	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr4:119203400-119212400	Weak transcription	Left Ventricle	heart
11	chr4:119203400-119228200	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr4:119203600-119210000	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr4:119204000-119210800	Weak transcription	NH-A	brain
14	chr4:119205600-119209800	Weak transcription	Primary T cells from cord blood	blood
15	chr4:119206600-119210200	Enhancers	HMEC	breast
16	chr4:119207200-119209600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr4:119207400-119210000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr4:119207600-119211200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr4:119208000-119210000	Enhancers	NHEK	skin
20	chr4:119208000-119213000	Enhancers	Muscle Satellite Cultured Cells	--
21	chr4:119208200-119209800	Enhancers	Liver	Liver
22	chr4:119208200-119213000	Enhancers	Osteobl	bone
23	chr4:119208400-119212400	Enhancers	NHLF	lung
24	chr4:119208400-119212800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr4:119208600-119210000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr4:119208600-119219600	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr4:119208800-119210600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr4:119208800-119213000	Enhancers	NHDF-Ad	bronchial
29	chr4:119209200-119210000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr4:119209400-119209800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr4:119209400-119209800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr4:119209400-119210800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr4:119209400-119210800	Enhancers	Fetal Stomach	stomach
34	chr4:119209400-119212800	Enhancers	Fetal Lung	lung

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