Variant report

Variant	rs4747436
Chromosome Location	chr10:5653172-5653173
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	SP1	chr10:5652459-5653222	HCT-116	colon:	n/a	chr10:5652834-5652843 chr10:5652835-5652844
2	TCF12	chr10:5652528-5653347	A549	lung:	n/a	n/a
3	MAX	chr10:5651331-5653241	HCT-116	colon:	n/a	n/a
4	FOSL2	chr10:5652468-5653176	A549	lung:	n/a	chr10:5652886-5652894
5	SP1	chr10:5651584-5653216	HCT-116	colon:	n/a	chr10:5652834-5652843 chr10:5651941-5651955 chr10:5652835-5652844
6	MAX	chr10:5651303-5653235	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:5637418..5639003-chr10:5650901..5653188,2	MCF-7	breast:
2	chr10:5484376..5493176-chr10:5653017..5671828,35	MCF-7	breast:
3	chr10:5652894..5654419-chr10:5654434..5655998,2	MCF-7	breast:
4	chr10:5486648..5491055-chr10:5645215..5653179,9	MCF-7	breast:
5	chr10:5652672..5654514-chr10:5659912..5662392,2	MCF-7	breast:
6	chr10:5634973..5639659-chr10:5649443..5654538,7	MCF-7	breast:
7	chr10:5651351..5653513-chr10:5657933..5661985,4	K562	blood:
8	chr10:5631327..5633176-chr10:5653154..5654967,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000231483	TF binding region
ENSG00000173848	Chromatin interaction
ENSG00000242147	Chromatin interaction
ENSG00000228951	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10466301	0.83[AFR][1000 genomes]
rs10466302	0.83[AFR][1000 genomes]
rs10795569	0.88[EUR][1000 genomes]
rs10795575	0.87[EUR][1000 genomes]
rs10795585	0.87[EUR][1000 genomes]
rs11594094	0.83[EUR][1000 genomes]
rs12250399	0.87[EUR][1000 genomes]
rs12266655	0.87[EUR][1000 genomes]
rs12765374	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12771305	0.84[EUR][1000 genomes]
rs12778832	0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs35406906	0.86[AFR][1000 genomes]
rs4750462	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4750485	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7098582	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7896428	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7917232	0.88[AFR][1000 genomes];0.82[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9663617	0.99[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]

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	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

No data

Chromatin state (count:53 , 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	chr10:5650600-5653200	Enhancers	Liver	Liver
5	chr10:5650600-5653200	Enhancers	Fetal Intestine Small	intestine
6	chr10:5650800-5655600	Weak transcription	Adipose Nuclei	Adipose
7	chr10:5651200-5653400	Enhancers	Colonic Mucosa	Colon
8	chr10:5651200-5653400	Enhancers	Psoas Muscle	Psoas
9	chr10:5651200-5653600	Enhancers	Pancreas	Pancrea
10	chr10:5651200-5656000	Weak transcription	Fetal Lung	lung
11	chr10:5651600-5653200	Enhancers	HSMM	muscle
12	chr10:5651600-5653400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr10:5651600-5654200	Enhancers	HSMMtube	muscle
14	chr10:5651800-5653200	Enhancers	Stomach Smooth Muscle	stomach
15	chr10:5651800-5654400	Enhancers	Skeletal Muscle Female	skeletal muscle
16	chr10:5651800-5654600	Enhancers	Stomach Mucosa	stomach
17	chr10:5651800-5655600	Weak transcription	Fetal Thymus	thymus
18	chr10:5651800-5655600	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr10:5651800-5665000	Weak transcription	Spleen	Spleen
20	chr10:5652000-5653200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr10:5652000-5654600	Enhancers	Muscle Satellite Cultured Cells	--
22	chr10:5652200-5655600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr10:5652200-5655600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr10:5652200-5655600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr10:5652200-5655800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr10:5652200-5655800	Weak transcription	Ovary	ovary
27	chr10:5652200-5660800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr10:5652200-5660800	Weak transcription	Right Ventricle	heart
29	chr10:5652400-5654000	Enhancers	Fetal Intestine Large	intestine
30	chr10:5652400-5654600	Enhancers	Skeletal Muscle Male	skeletal muscle
31	chr10:5652400-5654800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr10:5652400-5655600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
33	chr10:5652400-5655600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr10:5652400-5655600	Weak transcription	Placenta	Placenta
35	chr10:5652400-5655800	Weak transcription	Aorta	Aorta
36	chr10:5652600-5653400	Flanking Active TSS	Hela-S3	cervix
37	chr10:5652600-5654600	Enhancers	Rectal Mucosa Donor 31	rectum
38	chr10:5652800-5653400	Flanking Active TSS	A549	lung
39	chr10:5652800-5654400	Enhancers	NHEK	skin
40	chr10:5652800-5654600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr10:5652800-5655000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr10:5652800-5656600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr10:5652800-5658600	Enhancers	HMEC	breast
44	chr10:5653000-5653400	Enhancers	Rectal Mucosa Donor 29	rectum
45	chr10:5653000-5653800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr10:5653000-5654000	Weak transcription	Osteobl	bone
47	chr10:5653000-5654200	Enhancers	Duodenum Mucosa	Duodenum
48	chr10:5653000-5655400	Enhancers	HepG2	liver
49	chr10:5653000-5655600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr10:5653000-5655600	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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