Variant report

Variant	rs61253147
Chromosome Location	chr10:51041832-51041833
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:51041329..51043585-chr10:51045424..51047411,2	K562	blood:
2	chr10:51041508..51042008-chr5:43483582..43484210,2	Hela-S3	cervix:
3	chr10:51033722..51037906-chr10:51041660..51043995,3	K562	blood:

Variant related genes	Relation type
ENSG00000249492	Chromatin interaction
ENSG00000151881	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs55937635	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56040437	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74131126	1.00[AMR][1000 genomes]
rs74131128	1.00[AMR][1000 genomes]
rs74131134	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74131141	1.00[AFR][1000 genomes];1.00[AMR][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	esv2758219	chr10:50971974-51925166	Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
2	esv2759749	chr10:50971974-51925166	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
3	nsv428232	chr10:50971974-51925166	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
4	nsv895379	chr10:51022933-51187793	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:51019800-51053400	Weak transcription	Small Intestine	intestine
2	chr10:51020400-51049600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr10:51024000-51052800	Weak transcription	NHLF	lung
4	chr10:51024200-51053200	Weak transcription	Fetal Brain Male	brain
5	chr10:51024600-51054800	Weak transcription	Fetal Heart	heart
6	chr10:51025800-51047800	Weak transcription	HMEC	breast
7	chr10:51026400-51047200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr10:51028200-51046600	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr10:51028200-51047000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr10:51028200-51050000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr10:51028200-51053000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr10:51028200-51054600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr10:51028400-51049600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr10:51028400-51053000	Weak transcription	Colonic Mucosa	Colon
15	chr10:51028400-51055000	Weak transcription	Spleen	Spleen
16	chr10:51028400-51056200	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr10:51028600-51051400	Weak transcription	Fetal Brain Female	brain
18	chr10:51030800-51043800	Weak transcription	Fetal Muscle Leg	muscle
19	chr10:51031000-51043200	Weak transcription	A549	lung
20	chr10:51031000-51046800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr10:51031000-51053200	Weak transcription	Rectal Smooth Muscle	rectum
22	chr10:51032600-51042200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
23	chr10:51033200-51052000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr10:51033400-51045800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr10:51035000-51043600	Weak transcription	Osteobl	bone
26	chr10:51035800-51043800	Weak transcription	HSMM	muscle
27	chr10:51037000-51043800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
28	chr10:51037400-51042600	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr10:51038200-51052000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr10:51038800-51052000	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr10:51039200-51042200	Strong transcription	Primary T helper cells fromperipheralblood	blood
32	chr10:51039400-51043400	Strong transcription	Hela-S3	cervix
33	chr10:51039800-51042000	Strong transcription	GM12878-XiMat	blood
34	chr10:51039800-51043400	Enhancers	iPS-18 Cell Line	embryonic stem cell
35	chr10:51039800-51043600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr10:51039800-51043800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr10:51039800-51043800	Weak transcription	Fetal Kidney	kidney
38	chr10:51039800-51052800	Weak transcription	NHDF-Ad	bronchial
39	chr10:51040000-51051200	Weak transcription	HSMMtube	muscle
40	chr10:51040000-51051800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr10:51040000-51053400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr10:51040200-51047600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr10:51040400-51042400	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr10:51040400-51046600	Weak transcription	NH-A	brain
45	chr10:51040400-51047000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr10:51040400-51047000	Weak transcription	Lung	lung
47	chr10:51040400-51047200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr10:51040400-51049800	Weak transcription	Brain Germinal Matrix	brain
49	chr10:51040400-51049800	Weak transcription	Brain Inferior Temporal Lobe	brain
50	chr10:51040400-51050600	Weak transcription	Psoas Muscle	Psoas

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