Variant report

Variant	rs2292200
Chromosome Location	chr10:50506558-50506559
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:13 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr10:50506505-50508917	K562	blood:	n/a	n/a
2	UBTF	chr10:50506546-50509056	K562	blood:	n/a	n/a
3	RCOR1	chr10:50506480-50509331	K562	blood:	n/a	n/a
4	TBP	chr10:50506218-50507728	K562	blood:	n/a	n/a
5	UBTF	chr10:50505840-50509021	K562	blood:	n/a	n/a
6	EP300	chr10:50506285-50508997	K562	blood:	n/a	n/a
7	POLR2A	chr10:50505984-50509599	K562	blood:	n/a	n/a
8	MAZ	chr10:50506195-50509256	K562	blood:	n/a	n/a
9	TBL1XR1	chr10:50506482-50509073	K562	blood:	n/a	n/a
10	E2F6	chr10:50506503-50508957	K562	blood:	n/a	n/a
11	MAX	chr10:50506384-50509079	K562	blood:	n/a	n/a
12	POLR2A	chr10:50506519-50509075	K562	blood:	n/a	n/a
13	BHLHE40	chr10:50505806-50506808	K562	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:50384969..50387621-chr10:50504946..50509741,4	K562	blood:
2	chr10:49718293..49721279-chr10:50504590..50507564,3	K562	blood:
3	chr10:50475958..50477479-chr10:50504805..50506653,2	K562	blood:

No data

Variant related genes	Relation type
C10orf71	TF binding region
ENSG00000248682	Chromatin interaction
ENSG00000204161	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11101083	0.88[JPT][hapmap]
rs12414824	0.87[CHD][hapmap];0.88[JPT][hapmap]
rs12415544	0.81[JPT][hapmap]
rs2377940	0.87[CHD][hapmap]
rs4838493	0.90[CHD][hapmap]
rs4838494	0.90[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv895375	chr10:50306386-51028871	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv534410	chr10:50317458-50826916	Weak transcription Bivalent Enhancer Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv895376	chr10:50480164-50557211	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50500600-50507800	Weak transcription	Lung	lung
2	chr10:50501800-50507400	Weak transcription	Spleen	Spleen
3	chr10:50503000-50508200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr10:50503600-50507200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr10:50504200-50506800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
6	chr10:50504200-50507000	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
7	chr10:50504400-50507200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr10:50504600-50506800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr10:50504800-50511200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr10:50505000-50507400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr10:50505000-50507600	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr10:50505000-50508000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr10:50505200-50506600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr10:50505600-50506600	Bivalent Enhancer	Fetal Stomach	stomach
15	chr10:50505800-50508000	Flanking Active TSS	Fetal Muscle Trunk	muscle
16	chr10:50505800-50509000	Flanking Active TSS	Fetal Muscle Leg	muscle
17	chr10:50505800-50509600	Flanking Active TSS	K562	blood
18	chr10:50506000-50506800	Flanking Active TSS	Left Ventricle	heart
19	chr10:50506000-50507400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr10:50506000-50507400	Enhancers	Fetal Lung	lung
21	chr10:50506000-50507600	Bivalent Enhancer	Placenta	Placenta
22	chr10:50506000-50507800	Enhancers	H1 Cell Line	embryonic stem cell
23	chr10:50506000-50508200	Flanking Active TSS	HSMMtube	muscle
24	chr10:50506200-50506600	Weak transcription	Primary B cells from peripheral blood	blood
25	chr10:50506200-50506600	Enhancers	Duodenum Smooth Muscle	Duodenum
26	chr10:50506200-50506800	Flanking Active TSS	Fetal Heart	heart
27	chr10:50506200-50507000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr10:50506200-50507800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr10:50506400-50506600	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr10:50506400-50506600	Flanking Active TSS	Right Atrium	heart
31	chr10:50506400-50506600	Enhancers	HSMM	muscle
32	chr10:50506400-50506800	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr10:50506400-50506800	Enhancers	Ovary	ovary
34	chr10:50506400-50506800	Flanking Active TSS	Pancreas	Pancrea
35	chr10:50506400-50506800	Flanking Active TSS	Psoas Muscle	Psoas
36	chr10:50506400-50506800	Flanking Active TSS	Right Ventricle	heart
37	chr10:50506400-50507000	Flanking Active TSS	Stomach Smooth Muscle	stomach
38	chr10:50506400-50507200	Bivalent Enhancer	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr10:50506400-50507400	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr10:50506400-50507800	Enhancers	Adipose Nuclei	Adipose

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