Variant report

Variant	rs41365350
Chromosome Location	chr4:7058941-7058942
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:7057210..7060448-chr4:7063606..7065377,3	MCF-7	breast:
2	chr4:7052919..7061052-chr4:7065851..7072132,10	MCF-7	breast:
3	chr4:7050602..7053541-chr4:7055999..7060272,5	MCF-7	breast:
4	chr4:7058331..7067210-chr4:7067664..7073138,15	MCF-7	breast:
5	chr4:7055114..7059009-chr4:7059450..7062240,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000109519	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11946336	0.91[EUR][1000 genomes]
rs16839511	1.00[AMR][1000 genomes]
rs16839530	1.00[CEU][hapmap]
rs3892978	1.00[AMR][1000 genomes]
rs41394850	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs41499144	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs4689583	1.00[GIH][hapmap]
rs4689584	1.00[GIH][hapmap]
rs58027198	1.00[AMR][1000 genomes]
rs60263546	1.00[AMR][1000 genomes]
rs6819148	1.00[CEU][hapmap];1.00[GIH][hapmap]

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	esv34033	chr4:6973270-7390621	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	esv2757919	chr4:6988148-7269901	Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	esv2759221	chr4:6988148-7269901	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv428436	chr4:6988148-7269901	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
5	nsv469847	chr4:7003525-7168441	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
6	nsv878531	chr4:7006541-7129556	Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
7	nsv878533	chr4:7032180-7063524	Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
8	nsv4217	chr4:7035512-7080230	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7046200-7068600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr4:7046600-7062600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:7046800-7062000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr4:7047000-7059600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr4:7047000-7061200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr4:7047200-7059600	Weak transcription	NH-A	brain
7	chr4:7047400-7059200	Strong transcription	Fetal Intestine Small	intestine
8	chr4:7047400-7062400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr4:7047800-7062200	Weak transcription	Hela-S3	cervix
10	chr4:7048000-7062800	Weak transcription	Fetal Kidney	kidney
11	chr4:7048600-7061400	Weak transcription	Small Intestine	intestine
12	chr4:7048600-7062600	Weak transcription	Fetal Brain Male	brain
13	chr4:7049000-7060400	Strong transcription	Duodenum Mucosa	Duodenum
14	chr4:7049400-7061400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr4:7049800-7060600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr4:7049800-7066800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr4:7052200-7067000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr4:7052600-7066600	Strong transcription	Dnd41	blood
19	chr4:7052800-7066000	Strong transcription	Rectal Mucosa Donor 31	rectum
20	chr4:7053000-7066800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr4:7053600-7060800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr4:7054400-7067000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr4:7054800-7065800	Strong transcription	Brain Germinal Matrix	brain
24	chr4:7054800-7067600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr4:7055000-7059000	Strong transcription	Thymus	Thymus
26	chr4:7055000-7059200	Strong transcription	Primary B cells from peripheral blood	blood
27	chr4:7055000-7062200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr4:7055000-7067000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr4:7055000-7068200	Weak transcription	Fetal Heart	heart
30	chr4:7055200-7059200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr4:7055200-7059400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr4:7055200-7067200	Strong transcription	Primary T cells from cord blood	blood
33	chr4:7055200-7068400	Strong transcription	Fetal Stomach	stomach
34	chr4:7055400-7059200	Strong transcription	Primary T helper cells fromperipheralblood	blood
35	chr4:7055400-7059200	Strong transcription	Liver	Liver
36	chr4:7055400-7060600	Weak transcription	HSMMtube	muscle
37	chr4:7055400-7062600	Strong transcription	Stomach Smooth Muscle	stomach
38	chr4:7055400-7063200	Weak transcription	Psoas Muscle	Psoas
39	chr4:7055400-7065200	Strong transcription	Primary T helper cells PMA-I stimulated	--
40	chr4:7055400-7067000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr4:7055400-7068200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr4:7055600-7059200	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr4:7055600-7059200	Strong transcription	Rectal Mucosa Donor 29	rectum
44	chr4:7055600-7061400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr4:7055600-7065800	Strong transcription	Primary T cells fromperipheralblood	blood
46	chr4:7055600-7066200	Strong transcription	Fetal Lung	lung
47	chr4:7055600-7067800	Strong transcription	Fetal Thymus	thymus
48	chr4:7055600-7068200	Strong transcription	Fetal Muscle Leg	muscle
49	chr4:7055600-7068200	Strong transcription	Placenta	Placenta
50	chr4:7055800-7059000	Strong transcription	Left Ventricle	heart

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