Variant report

Variant	rs551134371
Chromosome Location	chr10:5602950-5602951
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:5594566..5598758-chr10:5599072..5603541,5	K562	blood:
2	chr10:5598840..5600592-chr10:5600900..5603506,2	K562	blood:
3	chr10:5519492..5522236-chr10:5601737..5603732,2	K562	blood:
4	chr10:5495552..5497804-chr10:5602669..5605411,3	MCF-7	breast:
5	chr10:5602399..5604933-chr10:5614544..5616232,2	K562	blood:

Variant related genes	Relation type
ENSG00000173848	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:23 , 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	esv17167	chr10:5602128-5604507	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
18	esv3461618	chr10:5602236-5604601	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
19	esv3461285	chr10:5602283-5604578	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
20	esv3461507	chr10:5602301-5604562	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
21	esv3461174	chr10:5602307-5604559	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
22	esv3461396	chr10:5602364-5604505	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
23	esv3461729	chr10:5602378-5604501	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:5588400-5608200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr10:5591400-5605400	Weak transcription	Right Atrium	heart
3	chr10:5595200-5604800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr10:5595600-5606200	Weak transcription	Spleen	Spleen
5	chr10:5596600-5605400	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr10:5596800-5603600	Enhancers	HepG2	liver
7	chr10:5597000-5603400	Enhancers	Stomach Smooth Muscle	stomach
8	chr10:5597600-5606000	Weak transcription	Gastric	stomach
9	chr10:5597800-5605400	Weak transcription	Esophagus	oesophagus
10	chr10:5599000-5603200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr10:5599200-5604200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr10:5599600-5603000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr10:5599800-5605600	Weak transcription	Fetal Intestine Large	intestine
14	chr10:5600000-5603600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr10:5600800-5603200	Enhancers	Fetal Stomach	stomach
16	chr10:5601000-5603000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr10:5601200-5603200	Enhancers	Fetal Muscle Leg	muscle
18	chr10:5601600-5603000	Enhancers	K562	blood
19	chr10:5601600-5603600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
20	chr10:5602000-5603200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr10:5602000-5604400	Weak transcription	Stomach Mucosa	stomach
22	chr10:5602000-5605400	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr10:5602000-5605400	Weak transcription	Placenta	Placenta
24	chr10:5602400-5603000	Enhancers	NH-A	brain
25	chr10:5602400-5603200	Enhancers	Aorta	Aorta
26	chr10:5602400-5604400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr10:5602400-5604600	Weak transcription	Primary T cells from cord blood	blood
28	chr10:5602400-5605200	Weak transcription	HMEC	breast
29	chr10:5602400-5605400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr10:5602400-5605400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr10:5602400-5605400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr10:5602400-5605400	Weak transcription	Rectal Smooth Muscle	rectum
33	chr10:5602400-5605400	Weak transcription	HSMMtube	muscle
34	chr10:5602400-5605800	Weak transcription	Fetal Lung	lung
35	chr10:5602600-5603000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr10:5602600-5603000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
37	chr10:5602600-5605400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr10:5602600-5605400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr10:5602600-5605400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr10:5602600-5605400	Weak transcription	NHEK	skin
41	chr10:5602600-5605800	Weak transcription	NHLF	lung
42	chr10:5602600-5609400	Weak transcription	A549	lung
43	chr10:5602800-5603200	Enhancers	Fetal Intestine Small	intestine
44	chr10:5602800-5604800	Weak transcription	Colon Smooth Muscle	Colon
45	chr10:5602800-5604800	Weak transcription	Osteobl	bone
46	chr10:5602800-5605200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr10:5602800-5605400	Weak transcription	NHDF-Ad	bronchial
48	chr10:5602800-5605600	Weak transcription	HSMM	muscle
49	chr10:5602800-5605800	Weak transcription	Muscle Satellite Cultured Cells	--

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