Variant report

Variant	rs4399238
Chromosome Location	chr10:5614972-5614973
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:5612848..5615764-chr10:5625126..5626757,2	K562	blood:
2	chr10:5588926..5596967-chr10:5614767..5621599,13	MCF-7	breast:
3	chr10:5602399..5604933-chr10:5614544..5616232,2	K562	blood:
4	chr10:5614636..5617261-chr10:5635762..5637348,3	K562	blood:
5	chr10:5596817..5599618-chr10:5614255..5615929,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10795287	0.84[EUR][1000 genomes]
rs11253240	1.00[EUR][1000 genomes]
rs4076513	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4881482	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4881487	0.80[EUR][1000 genomes]
rs7910125	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7923141	0.84[EUR][1000 genomes]
rs9423447	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9423452	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534685	chr10:4914018-5853324	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv932104	chr10:5203626-5641023	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
3	nsv549886	chr10:5205437-5632060	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
4	nsv1054865	chr10:5225305-5638119	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
5	nsv831774	chr10:5463556-5657421	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
6	nsv894798	chr10:5503610-5670275	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
7	nsv1051283	chr10:5505474-5619941	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
8	nsv1049523	chr10:5542109-5619941	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
9	nsv523491	chr10:5542109-5720067	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
10	nsv1052002	chr10:5544571-5619941	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
11	nsv1038479	chr10:5545773-5619941	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
12	esv2757364	chr10:5557024-5720512	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
13	esv2759729	chr10:5557024-5804780	Flanking Active TSS Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
14	nsv894800	chr10:5572893-5621628	Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
15	nsv1044746	chr10:5595343-5619941	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
16	nsv894801	chr10:5600202-5631737	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
17	nsv894802	chr10:5608202-5631737	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Active TSS	Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
18	nsv549889	chr10:5610349-5630131	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:5608600-5615800	Weak transcription	HSMMtube	muscle
2	chr10:5609000-5617200	Weak transcription	NHDF-Ad	bronchial
3	chr10:5610200-5616000	Weak transcription	Fetal Stomach	stomach
4	chr10:5612000-5616000	Weak transcription	Right Atrium	heart
5	chr10:5612600-5617600	Enhancers	Liver	Liver
6	chr10:5612800-5619400	Enhancers	Fetal Intestine Large	intestine
7	chr10:5613200-5617200	Enhancers	Fetal Intestine Small	intestine
8	chr10:5613800-5616600	Weak transcription	Colonic Mucosa	Colon
9	chr10:5613800-5621400	Weak transcription	Stomach Mucosa	stomach
10	chr10:5614000-5616200	Enhancers	HepG2	liver
11	chr10:5614000-5619200	Enhancers	HMEC	breast
12	chr10:5614200-5615000	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr10:5614200-5616600	Enhancers	NHEK	skin
14	chr10:5614200-5617200	Weak transcription	Small Intestine	intestine
15	chr10:5614200-5617800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr10:5614200-5618400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr10:5614200-5619200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr10:5614400-5615000	Enhancers	Rectal Smooth Muscle	rectum
19	chr10:5614600-5615000	Enhancers	Rectal Mucosa Donor 31	rectum
20	chr10:5614600-5615200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr10:5614600-5618800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr10:5614800-5615000	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr10:5614800-5615600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr10:5614800-5616000	Weak transcription	Duodenum Mucosa	Duodenum
25	chr10:5614800-5616000	Weak transcription	Esophagus	oesophagus
26	chr10:5614800-5616000	Weak transcription	Fetal Muscle Trunk	muscle
27	chr10:5614800-5617200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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