Variant report

Variant	rs7914554
Chromosome Location	chr10:52221386-52221387
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:52220837..52222946-chr10:52225601..52227528,3	K562	blood:
2	chr10:52220084..52221898-chr10:52222216..52224809,2	MCF-7	breast:
3	chr10:52220256..52222219-chr10:52225447..52227961,2	MCF-7	breast:
4	chr10:52218961..52222149-chr10:52229280..52232143,4	MCF-7	breast:
5	chr10:52221096..52222915-chr10:52233294..52234795,2	K562	blood:

Variant related genes	Relation type
ENSG00000198964	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs7085876	0.87[AFR][1000 genomes]
rs7903503	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7905289	1.00[AFR][1000 genomes]
rs7907448	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7915490	0.96[AFR][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	nsv1054775	chr10:51595893-52392361	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv1051087	chr10:51886486-52447295	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv916214	chr10:51886486-52458983	Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv918212	chr10:51886486-52465482	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv817412	chr10:51911034-52432990	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:52192400-52229400	Weak transcription	Aorta	Aorta
2	chr10:52192400-52230400	Weak transcription	HSMM	muscle
3	chr10:52197800-52229800	Weak transcription	Gastric	stomach
4	chr10:52204400-52228600	Weak transcription	NHDF-Ad	bronchial
5	chr10:52207800-52221800	Weak transcription	Psoas Muscle	Psoas
6	chr10:52208000-52240200	Weak transcription	Esophagus	oesophagus
7	chr10:52208200-52229600	Weak transcription	Right Ventricle	heart
8	chr10:52208400-52230400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr10:52209600-52229200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr10:52211600-52223800	Weak transcription	Colon Smooth Muscle	Colon
11	chr10:52211800-52229400	Weak transcription	NHEK	skin
12	chr10:52212800-52229400	Weak transcription	Primary hematopoietic stem cells	blood
13	chr10:52212800-52229600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr10:52215000-52230400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr10:52215200-52228800	Weak transcription	HepG2	liver
16	chr10:52215200-52229000	Weak transcription	Brain Angular Gyrus	brain
17	chr10:52215600-52228600	Weak transcription	HSMMtube	muscle
18	chr10:52215800-52228600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr10:52216000-52221600	Weak transcription	Stomach Smooth Muscle	stomach
20	chr10:52216400-52228600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr10:52217200-52229600	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr10:52218000-52240200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr10:52218200-52228800	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr10:52218200-52230800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr10:52218400-52229400	Weak transcription	A549	lung
26	chr10:52218600-52228400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr10:52219000-52221400	Weak transcription	Fetal Brain Female	brain
28	chr10:52219000-52221400	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr10:52219000-52223400	Weak transcription	Skeletal Muscle Male	skeletal muscle
30	chr10:52219000-52223600	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr10:52219400-52226000	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr10:52219800-52229000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr10:52220000-52221400	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr10:52220000-52243600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr10:52220200-52222400	Weak transcription	Brain Cingulate Gyrus	brain
36	chr10:52220200-52230400	Weak transcription	Hela-S3	cervix
37	chr10:52220400-52221400	Weak transcription	Brain Substantia Nigra	brain
38	chr10:52220400-52221400	Weak transcription	Small Intestine	intestine
39	chr10:52220400-52221600	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr10:52220400-52222000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr10:52220400-52222200	Weak transcription	Brain Anterior Caudate	brain
42	chr10:52220400-52222200	Weak transcription	Fetal Muscle Trunk	muscle
43	chr10:52220400-52223600	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr10:52220400-52224000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr10:52220400-52224000	Weak transcription	Fetal Heart	heart
46	chr10:52220400-52226800	Weak transcription	Fetal Brain Male	brain
47	chr10:52220400-52227600	Weak transcription	Primary T helper cells PMA-I stimulated	--
48	chr10:52220400-52227800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr10:52220400-52228400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr10:52220400-52228400	Weak transcription	Fetal Kidney	kidney

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