Variant report

Variant	rs60214846
Chromosome Location	chr10:49707061-49707062
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	chr10:49571889..49574086-chr10:49706276..49707792,2	K562	blood:
2	chr10:49700642..49703834-chr10:49704395..49707390,3	K562	blood:

Variant related genes	Relation type
ENSG00000128805	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10400143	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10857592	0.80[ASN][1000 genomes]
rs11101362	0.80[ASN][1000 genomes]
rs11101364	0.80[ASN][1000 genomes]
rs11101368	0.80[ASN][1000 genomes]
rs11591281	0.80[ASN][1000 genomes]
rs11812546	0.86[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1445154	0.82[ASN][1000 genomes]
rs34983450	0.80[ASN][1000 genomes]
rs4080665	0.87[ASN][1000 genomes]
rs41510345	0.83[ASN][1000 genomes]
rs4450130	0.80[ASN][1000 genomes]
rs57601353	0.80[ASN][1000 genomes]
rs66695288	0.80[ASN][1000 genomes]
rs67372461	0.80[ASN][1000 genomes]
rs72783093	0.80[ASN][1000 genomes]
rs72783094	0.89[ASN][1000 genomes]
rs72783101	0.89[ASN][1000 genomes]
rs72785120	0.87[ASN][1000 genomes]
rs73303077	0.87[ASN][1000 genomes]
rs7895980	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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	nsv467191	chr10:49669142-49735563	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv550813	chr10:49669142-49735563	Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv550814	chr10:49705142-49735563	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:49698000-49731200	Weak transcription	Aorta	Aorta
2	chr10:49701600-49716400	Weak transcription	Right Atrium	heart
3	chr10:49702200-49707400	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr10:49702400-49718200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr10:49704200-49707200	Enhancers	NHDF-Ad	bronchial
6	chr10:49704400-49707800	Enhancers	Primary hematopoietic stem cells	blood
7	chr10:49705000-49707200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr10:49705400-49716600	Weak transcription	Brain Angular Gyrus	brain
9	chr10:49705600-49708400	Weak transcription	Esophagus	oesophagus
10	chr10:49705600-49715600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr10:49705800-49707600	Enhancers	Brain Cingulate Gyrus	brain
12	chr10:49705800-49713000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr10:49706000-49707400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr10:49706000-49709200	Weak transcription	NHLF	lung
15	chr10:49706000-49709400	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr10:49706000-49710200	Weak transcription	Fetal Muscle Leg	muscle
17	chr10:49706000-49710600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr10:49706000-49716600	Weak transcription	HMEC	breast
19	chr10:49706000-49723400	Weak transcription	NH-A	brain
20	chr10:49706200-49707400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr10:49706200-49709200	Weak transcription	Osteobl	bone
22	chr10:49706200-49709400	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr10:49706200-49709800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr10:49706200-49712400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr10:49706200-49712400	Weak transcription	Fetal Thymus	thymus
26	chr10:49706200-49713800	Weak transcription	HSMM	muscle
27	chr10:49706200-49716400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr10:49706400-49709400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr10:49706400-49710400	Weak transcription	HSMMtube	muscle
30	chr10:49706600-49709400	Weak transcription	Ovary	ovary
31	chr10:49706800-49707600	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
32	chr10:49706800-49710000	Weak transcription	K562	blood
33	chr10:49707000-49707400	ZNF genes & repeats	Fetal Stomach	stomach
34	chr10:49707000-49709200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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