Variant report

Variant	rs10517217
Chromosome Location	chr4:48353342-48353343
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:48351553..48354497-chr4:48357846..48360207,2	MCF-7	breast:
2	chr4:48337400..48346343-chr4:48347805..48355704,14	K562	blood:
3	chr4:48342571..48344149-chr4:48352439..48354325,2	MCF-7	breast:
4	chr4:48349775..48352299-chr4:48353081..48355903,3	K562	blood:

Variant related genes	Relation type
ENSG00000109171	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10000288	0.85[ASN][1000 genomes]
rs10004425	0.82[ASN][1000 genomes]
rs1055721	0.81[CHB][hapmap];0.84[CHD][hapmap];0.95[JPT][hapmap]
rs17609346	0.83[YRI][hapmap]
rs17609600	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs309890	0.86[JPT][hapmap]
rs4413478	0.80[JPT][hapmap]
rs6447631	0.81[CHB][hapmap];0.84[CHD][hapmap];0.95[JPT][hapmap]
rs6853315	0.85[ASN][1000 genomes]
rs7655066	0.81[CHB][hapmap];0.84[CHD][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs7658851	0.82[ASN][1000 genomes]
rs7664981	0.94[JPT][hapmap]
rs7668401	0.80[JPT][hapmap]
rs7688310	0.81[CHB][hapmap];0.95[JPT][hapmap];0.85[ASN][1000 genomes]
rs9992736	0.81[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs9999482	0.95[JPT][hapmap];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006610	chr4:48209294-48415387	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv537085	chr4:48209294-48415387	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48344800-48354400	Weak transcription	Esophagus	oesophagus
2	chr4:48344800-48362400	Weak transcription	Gastric	stomach
3	chr4:48345800-48353600	Weak transcription	Spleen	Spleen
4	chr4:48345800-48356000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
5	chr4:48345800-48356600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
6	chr4:48346000-48362800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr4:48346200-48354600	Weak transcription	Fetal Intestine Small	intestine
8	chr4:48346200-48356200	Weak transcription	Fetal Thymus	thymus
9	chr4:48346200-48356600	Weak transcription	HUVEC	blood vessel
10	chr4:48346200-48358400	Weak transcription	Small Intestine	intestine
11	chr4:48346200-48362400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr4:48346400-48361200	Weak transcription	Thymus	Thymus
13	chr4:48346600-48354800	Weak transcription	Primary B cells from cord blood	blood
14	chr4:48346600-48371000	Weak transcription	Monocytes-CD14+_RO01746	blood
15	chr4:48347000-48354600	Weak transcription	Aorta	Aorta
16	chr4:48347200-48359600	Weak transcription	Fetal Stomach	stomach
17	chr4:48347400-48353600	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr4:48347400-48353800	Weak transcription	Brain Cingulate Gyrus	brain
19	chr4:48347400-48354600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr4:48347400-48362200	Weak transcription	Brain Substantia Nigra	brain
21	chr4:48347400-48362200	Weak transcription	NHLF	lung
22	chr4:48347600-48354600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr4:48347600-48365000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr4:48348200-48353600	Weak transcription	Dnd41	blood
25	chr4:48348600-48353400	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr4:48348600-48362400	Weak transcription	Fetal Lung	lung
27	chr4:48348800-48355800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr4:48348800-48358200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr4:48348800-48363000	Weak transcription	Hela-S3	cervix
30	chr4:48348800-48371000	Weak transcription	Primary hematopoietic stem cells	blood
31	chr4:48349000-48356600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr4:48349000-48358400	Weak transcription	HSMM	muscle
33	chr4:48349200-48353400	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr4:48349200-48354600	Weak transcription	K562	blood
35	chr4:48349400-48353400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr4:48349400-48354600	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr4:48349400-48357200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr4:48349400-48358000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr4:48349400-48361800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr4:48349400-48361800	Weak transcription	HMEC	breast
41	chr4:48349400-48362200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr4:48349600-48354600	Weak transcription	Primary T cells fromperipheralblood	blood
43	chr4:48349600-48357000	Weak transcription	Lung	lung
44	chr4:48349600-48363200	Weak transcription	Adipose Nuclei	Adipose
45	chr4:48349600-48364400	Weak transcription	Right Atrium	heart
46	chr4:48349800-48354000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
47	chr4:48350000-48358600	Weak transcription	Ovary	ovary
48	chr4:48350000-48375800	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr4:48350400-48353800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr4:48350400-48355400	Enhancers	Primary T helper cells fromperipheralblood	blood

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