Variant report

Variant	rs685852
Chromosome Location	chr10:5934617-5934618
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:1 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr10:5934586-5934628	HepG2	liver:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:5726920..5728949-chr10:5933520..5936437,2	K562	blood:
2	chr10:5852595..5861125-chr10:5921136..5936216,31	MCF-7	breast:
3	chr10:5934107..5937505-chr10:5944279..5947723,3	K562	blood:
4	chr10:5933201..5936012-chr10:6019635..6021875,2	K562	blood:
5	chr10:5853439..5857708-chr10:5926443..5936823,24	K562	blood:
6	chr10:5933821..5935712-chr2:151735859..151737363,2	K562	blood:

No data

Variant related genes	Relation type
FBXO18	TF binding region
ANKRD16	TF binding region
ENSG00000272764	Chromatin interaction
ENSG00000134470	Chromatin interaction
ENSG00000108021	Chromatin interaction
ENSG00000134452	Chromatin interaction
ENSG00000057608	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs2669122	1.00[ASN][1000 genomes]
rs2669126	0.96[ASN][1000 genomes]
rs582359	1.00[ASN][1000 genomes]
rs591510	0.99[ASN][1000 genomes]
rs591878	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs593610	0.99[ASN][1000 genomes]
rs595923	0.99[ASN][1000 genomes]
rs598331	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs603780	0.98[ASN][1000 genomes]
rs607728	0.98[ASN][1000 genomes]
rs610093	0.96[ASN][1000 genomes]
rs621628	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs622758	0.96[ASN][1000 genomes]
rs626344	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs633797	0.96[ASN][1000 genomes]
rs633928	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs633930	0.96[ASN][1000 genomes]
rs635532	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs636578	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs647945	0.91[ASN][1000 genomes]
rs649537	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs664603	0.96[ASN][1000 genomes]
rs668498	0.98[ASN][1000 genomes]
rs670856	0.98[ASN][1000 genomes]
rs672126	0.93[ASN][1000 genomes]
rs680020	0.96[ASN][1000 genomes]
rs686854	0.98[ASN][1000 genomes]
rs688388	0.96[ASN][1000 genomes]
rs792348	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.85[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv34147	chr10:5726821-6105717	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	esv34061	chr10:5726821-6225187	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv1042286	chr10:5795129-6578445	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
4	nsv831775	chr10:5804335-6000849	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv825229	chr10:5886905-5967697	Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv466724	chr10:5920836-5938544	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases
7	nsv549906	chr10:5920836-5938544	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:5933000-5935000	Enhancers	Sigmoid Colon	Sigmoid Colon
2	chr10:5933000-5935200	Enhancers	Small Intestine	intestine
3	chr10:5933000-5935200	Enhancers	Spleen	Spleen
4	chr10:5933200-5934800	Enhancers	Primary T cells from cord blood	blood
5	chr10:5933200-5934800	Enhancers	Colon Smooth Muscle	Colon
6	chr10:5933200-5935000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
7	chr10:5933200-5936000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr10:5933200-5936000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr10:5933200-5936000	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr10:5933200-5936000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr10:5933200-5936000	Weak transcription	Fetal Muscle Trunk	muscle
12	chr10:5933200-5936400	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr10:5933200-5948200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr10:5933200-5949800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr10:5933200-5977000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr10:5933400-5935000	Enhancers	Adipose Nuclei	Adipose
17	chr10:5933400-5935200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr10:5933400-5935200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr10:5933400-5935200	Enhancers	HepG2	liver
20	chr10:5933400-5935400	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr10:5933400-5935400	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr10:5933400-5935400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr10:5933400-5935400	Enhancers	Right Atrium	heart
24	chr10:5933400-5935400	Weak transcription	Monocytes-CD14+_RO01746	blood
25	chr10:5933400-5935600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr10:5933400-5935600	Enhancers	Psoas Muscle	Psoas
27	chr10:5933400-5936000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr10:5933400-5936000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr10:5933400-5936000	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr10:5933400-5936000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr10:5933400-5936000	Weak transcription	Esophagus	oesophagus
32	chr10:5933400-5936400	Weak transcription	Colonic Mucosa	Colon
33	chr10:5933400-5936400	Weak transcription	Fetal Kidney	kidney
34	chr10:5933400-5936600	Weak transcription	HSMMtube	muscle
35	chr10:5933400-5938800	Enhancers	Primary T helper cells PMA-I stimulated	--
36	chr10:5933400-5948200	Weak transcription	Ovary	ovary
37	chr10:5933400-5948400	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr10:5933400-5949800	Weak transcription	Fetal Brain Male	brain
39	chr10:5933600-5935000	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr10:5933600-5935000	Genic enhancers	Dnd41	blood
41	chr10:5933600-5935400	Weak transcription	Primary B cells from cord blood	blood
42	chr10:5933600-5935600	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr10:5933600-5936000	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr10:5933600-5936000	Enhancers	Primary T helper cells fromperipheralblood	blood
45	chr10:5933600-5936000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr10:5933600-5936000	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr10:5933600-5936200	Weak transcription	A549	lung
48	chr10:5933600-5937000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr10:5933600-5948200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr10:5933600-5951600	Weak transcription	Stomach Mucosa	stomach

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