Variant report

Variant	rs537992999
Chromosome Location	chr10:5654620-5654621
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TFAP2C	chr10:5653920-5654669	Hela-S3	cervix:	n/a	n/a
2	TCF7L2	chr10:5653897-5654751	Hela-S3	cervix:	n/a	chr10:5654039-5654048 chr10:5654040-5654049
3	MAX	chr10:5653725-5654815	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:5648567..5652209-chr10:5653862..5656338,4	MCF-7	breast:
2	chr10:5653836..5655665-chr10:5658185..5659982,2	MCF-7	breast:
3	chr10:5649787..5651799-chr10:5653744..5655689,2	K562	blood:
4	chr10:5484376..5493176-chr10:5653017..5671828,35	MCF-7	breast:
5	chr10:5652894..5654419-chr10:5654434..5655998,2	MCF-7	breast:
6	chr10:5483715..5496703-chr10:5653374..5669304,43	MCF-7	breast:
7	chr10:5631327..5633176-chr10:5653154..5654967,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000231483	TF binding region
ENSG00000173848	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:25 , 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	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
3	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
4	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
5	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
6	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
7	esv2758209	chr10:5637111-5804780	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
8	nsv1040932	chr10:5637870-5665774	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
9	nsv466718	chr10:5639907-5657527	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
10	nsv549890	chr10:5639907-5657527	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv894806	chr10:5643511-5670275	Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
12	nsv1054888	chr10:5645033-5694612	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
13	nsv466719	chr10:5645895-5662915	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
14	nsv549891	chr10:5645895-5662915	Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
15	nsv519582	chr10:5646103-5720067	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
16	nsv894807	chr10:5647942-5691135	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
17	nsv8599	chr10:5649129-5719928	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
18	nsv1050965	chr10:5649760-5717125	Enhancers Genic enhancers Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
19	nsv1044330	chr10:5652006-5717125	Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
20	nsv975791	chr10:5652225-5711077	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
21	nsv466720	chr10:5652277-5715401	Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
22	nsv549892	chr10:5652277-5715401	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
23	nsv1037709	chr10:5652739-5717125	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
24	nsv470917	chr10:5654167-5715401	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
25	nsv818742	chr10:5654167-5715401	Weak transcription Enhancers Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:5649000-5657400	Weak transcription	Left Ventricle	heart
2	chr10:5650200-5662600	Enhancers	Fetal Muscle Leg	muscle
3	chr10:5650400-5661800	Enhancers	Fetal Muscle Trunk	muscle
4	chr10:5650800-5655600	Weak transcription	Adipose Nuclei	Adipose
5	chr10:5651200-5656000	Weak transcription	Fetal Lung	lung
6	chr10:5651800-5655600	Weak transcription	Fetal Thymus	thymus
7	chr10:5651800-5655600	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr10:5651800-5665000	Weak transcription	Spleen	Spleen
9	chr10:5652200-5655600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr10:5652200-5655600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr10:5652200-5655600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr10:5652200-5655800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr10:5652200-5655800	Weak transcription	Ovary	ovary
14	chr10:5652200-5660800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr10:5652200-5660800	Weak transcription	Right Ventricle	heart
16	chr10:5652400-5654800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr10:5652400-5655600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr10:5652400-5655600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr10:5652400-5655600	Weak transcription	Placenta	Placenta
20	chr10:5652400-5655800	Weak transcription	Aorta	Aorta
21	chr10:5652800-5655000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr10:5652800-5656600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr10:5652800-5658600	Enhancers	HMEC	breast
24	chr10:5653000-5655400	Enhancers	HepG2	liver
25	chr10:5653000-5655600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr10:5653000-5655600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr10:5653000-5655600	Weak transcription	Gastric	stomach
28	chr10:5653000-5655800	Weak transcription	NHDF-Ad	bronchial
29	chr10:5653000-5656600	Enhancers	Esophagus	oesophagus
30	chr10:5653200-5655400	Weak transcription	Liver	Liver
31	chr10:5653200-5655600	Weak transcription	Stomach Smooth Muscle	stomach
32	chr10:5653400-5655400	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr10:5653400-5655600	Weak transcription	Colonic Mucosa	Colon
34	chr10:5653400-5657200	Enhancers	A549	lung
35	chr10:5653400-5657400	Weak transcription	Psoas Muscle	Psoas
36	chr10:5653800-5655000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr10:5654000-5654800	Weak transcription	Fetal Intestine Large	intestine
38	chr10:5654000-5656000	Weak transcription	NHLF	lung
39	chr10:5654200-5655600	Weak transcription	HSMMtube	muscle
40	chr10:5654200-5655800	Weak transcription	Duodenum Mucosa	Duodenum
41	chr10:5654200-5656000	Weak transcription	Pancreas	Pancrea
42	chr10:5654200-5656000	Weak transcription	NH-A	brain
43	chr10:5654400-5655600	Weak transcription	Fetal Intestine Small	intestine
44	chr10:5654400-5655600	Weak transcription	Lung	lung
45	chr10:5654400-5655800	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr10:5654400-5655800	Weak transcription	HSMM	muscle
47	chr10:5654400-5655800	Weak transcription	NHEK	skin
48	chr10:5654600-5655600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr10:5654600-5655600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr10:5654600-5655600	Weak transcription	Skeletal Muscle Male	skeletal muscle

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