Variant report

Variant	rs3851553
Chromosome Location	chr10:49808218-49808219
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:49807563..49809582-chr10:49811052..49813456,2	K562	blood:
2	chr10:49807954..49810165-chr10:49813805..49816263,2	K562	blood:

Variant related genes	Relation type
ENSG00000128805	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10491034	0.92[CHB][hapmap];0.91[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10745280	1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10776627	1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10776628	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11101394	1.00[ASW][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11101397	1.00[ASW][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11101399	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11817042	0.92[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4838631	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61072239	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7914253	0.84[LWK][hapmap];0.87[YRI][hapmap];0.80[AFR][1000 genomes]
rs935283	0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs935284	0.83[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv895371	chr10:49492075-50232180	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
2	nsv895372	chr10:49576878-49933488	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv540623	chr10:49805087-49819765	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv540624	chr10:49805087-49822634	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:49794400-49810600	Enhancers	Brain Substantia Nigra	brain
2	chr10:49797400-49812200	Weak transcription	Right Atrium	heart
3	chr10:49799400-49808800	Weak transcription	NH-A	brain
4	chr10:49800600-49809400	Enhancers	Brain Inferior Temporal Lobe	brain
5	chr10:49803800-49809600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr10:49804000-49808400	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr10:49804200-49809600	Enhancers	Brain Hippocampus Middle	brain
8	chr10:49804400-49810800	Weak transcription	Gastric	stomach
9	chr10:49804600-49809200	Enhancers	Brain Anterior Caudate	brain
10	chr10:49804800-49809200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr10:49804800-49809400	Enhancers	Brain Cingulate Gyrus	brain
12	chr10:49805000-49809200	Enhancers	Brain Angular Gyrus	brain
13	chr10:49805600-49811000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr10:49806000-49810000	Enhancers	NHDF-Ad	bronchial
15	chr10:49806200-49808800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr10:49806200-49809400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr10:49807000-49809000	Genic enhancers	NHLF	lung
18	chr10:49807000-49809800	Weak transcription	HSMMtube	muscle
19	chr10:49807000-49811000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr10:49807200-49809000	Enhancers	Fetal Stomach	stomach
21	chr10:49807400-49808800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr10:49807400-49808800	Enhancers	HSMM	muscle
23	chr10:49807400-49809000	Genic enhancers	Osteobl	bone
24	chr10:49807600-49809800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr10:49807600-49811600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr10:49807800-49808400	Enhancers	Duodenum Smooth Muscle	Duodenum
27	chr10:49808000-49810400	Enhancers	HUVEC	blood vessel
28	chr10:49808000-49811400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr10:49808000-49811800	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr10:49808000-49811800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr10:49808000-49812000	Weak transcription	Ovary	ovary
32	chr10:49808200-49808400	Enhancers	HMEC	breast
33	chr10:49808200-49808800	Enhancers	Muscle Satellite Cultured Cells	--

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