Variant report

Variant	rs554630866
Chromosome Location	chr10:52261483-52261484
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:52260554..52263861-chr10:52272806..52275340,3	K562	blood:
2	chr10:52260913..52263202-chr10:52364630..52366882,2	MCF-7	breast:
3	chr10:52260323..52263504-chr10:52265636..52267832,3	MCF-7	breast:
4	chr10:52233474..52234062-chr10:52261195..52261976,2	MCF-7	breast:
5	chr10:52230115..52234351-chr10:52258743..52262560,5	MCF-7	breast:
6	chr10:52230142..52232797-chr10:52261125..52263960,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000230036	Chromatin interaction
ENSG00000225303	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 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
6	nsv895391	chr10:52260398-52291608	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:52234000-52261600	Weak transcription	Pancreas	Pancrea
2	chr10:52237800-52261800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr10:52244400-52261800	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr10:52244800-52261800	Weak transcription	Primary T cells from cord blood	blood
5	chr10:52244800-52262000	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr10:52247000-52271200	Weak transcription	Colon Smooth Muscle	Colon
7	chr10:52248000-52261800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr10:52249200-52266800	Weak transcription	Primary B cells from cord blood	blood
9	chr10:52253800-52268200	Weak transcription	Fetal Intestine Small	intestine
10	chr10:52255000-52267200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr10:52255400-52266600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr10:52256400-52261800	Weak transcription	Primary B cells from peripheral blood	blood
13	chr10:52256600-52263000	Weak transcription	Right Ventricle	heart
14	chr10:52257000-52261800	Weak transcription	Right Atrium	heart
15	chr10:52257600-52261800	Weak transcription	Left Ventricle	heart
16	chr10:52258000-52261600	Weak transcription	Fetal Heart	heart
17	chr10:52258000-52261600	Weak transcription	Hela-S3	cervix
18	chr10:52258000-52261800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr10:52258000-52261800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr10:52258000-52266600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr10:52258000-52266600	Weak transcription	Ovary	ovary
22	chr10:52258000-52267200	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr10:52258000-52271800	Weak transcription	Skeletal Muscle Male	skeletal muscle
24	chr10:52258200-52261600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr10:52259200-52261600	Weak transcription	GM12878-XiMat	blood
26	chr10:52260400-52263600	Enhancers	Brain Substantia Nigra	brain
27	chr10:52260600-52264000	Enhancers	Brain Angular Gyrus	brain
28	chr10:52260600-52264000	Enhancers	HepG2	liver
29	chr10:52260800-52262400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr10:52260800-52262400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr10:52260800-52262400	Enhancers	Stomach Mucosa	stomach
32	chr10:52260800-52262400	Enhancers	NHEK	skin
33	chr10:52260800-52264400	Enhancers	Brain Inferior Temporal Lobe	brain
34	chr10:52260800-52264600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
35	chr10:52260800-52264600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr10:52260800-52264600	Enhancers	Brain Cingulate Gyrus	brain
37	chr10:52261000-52261600	Enhancers	NHLF	lung
38	chr10:52261000-52262000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr10:52261000-52262400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr10:52261000-52268200	Weak transcription	Gastric	stomach
41	chr10:52261200-52261600	Weak transcription	Brain Hippocampus Middle	brain
42	chr10:52261200-52261800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr10:52261200-52264000	Enhancers	Brain Anterior Caudate	brain
44	chr10:52261400-52261800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr10:52261400-52261800	Enhancers	HSMM	muscle
46	chr10:52261400-52262000	Enhancers	HSMMtube	muscle
47	chr10:52261400-52262000	Enhancers	Osteobl	bone
48	chr10:52261400-52262200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
49	chr10:52261400-52262200	Weak transcription	Pancreatic Islets	Pancreatic Islet
50	chr10:52261400-52262200	Enhancers	Small Intestine	intestine

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