Variant report

Variant	rs539151119
Chromosome Location	chr2:10568733-10568734
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:10566694..10569461-chr2:10570091..10572722,5	MCF-7	breast:
2	chr2:10259215..10279610-chr2:10567557..10581613,45	K562	blood:

Variant related genes	Relation type
ENSG00000171848	Chromatin interaction
ENSG00000272524	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530829	chr2:10357105-10655131	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
2	nsv873643	chr2:10535481-10583160	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv873644	chr2:10537347-10576424	Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv873645	chr2:10537347-10612091	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
5	nsv1007185	chr2:10540386-10791743	Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
6	nsv873646	chr2:10550517-10612091	Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
7	esv3439845	chr2:10568326-10571274	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	esv3402466	chr2:10568551-10571049	Strong transcription Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10549000-10570400	Weak transcription	Psoas Muscle	Psoas
2	chr2:10549600-10572400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr2:10550200-10571800	Weak transcription	Small Intestine	intestine
4	chr2:10551200-10574800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr2:10553000-10573200	Weak transcription	K562	blood
6	chr2:10554600-10579200	Weak transcription	NHDF-Ad	bronchial
7	chr2:10554800-10572600	Weak transcription	Colon Smooth Muscle	Colon
8	chr2:10555800-10572600	Weak transcription	HSMM	muscle
9	chr2:10559400-10568800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr2:10559400-10568800	Strong transcription	Monocytes-CD14+_RO01746	blood
11	chr2:10559400-10569000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr2:10559600-10568800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr2:10559600-10568800	Strong transcription	Lung	lung
14	chr2:10559600-10569000	Strong transcription	Primary T cells from cord blood	blood
15	chr2:10559800-10568800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr2:10559800-10569200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr2:10560000-10568800	Strong transcription	Adipose Nuclei	Adipose
18	chr2:10560000-10568800	Strong transcription	Pancreas	Pancrea
19	chr2:10561200-10569200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
20	chr2:10562600-10569400	Weak transcription	Brain Substantia Nigra	brain
21	chr2:10563000-10575000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr2:10563600-10570200	Weak transcription	Brain Cingulate Gyrus	brain
23	chr2:10563600-10571800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr2:10563800-10572000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
25	chr2:10563800-10572000	Weak transcription	Rectal Smooth Muscle	rectum
26	chr2:10563800-10572200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr2:10564600-10569200	Genic enhancers	Fetal Muscle Leg	muscle
28	chr2:10564800-10570200	Weak transcription	Hela-S3	cervix
29	chr2:10565000-10569000	Weak transcription	Fetal Thymus	thymus
30	chr2:10565000-10571000	Weak transcription	Brain Inferior Temporal Lobe	brain
31	chr2:10565200-10571400	Weak transcription	Primary B cells from cord blood	blood
32	chr2:10565200-10572200	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr2:10565400-10572800	Weak transcription	NH-A	brain
34	chr2:10566000-10568800	Strong transcription	Primary hematopoietic stem cells	blood
35	chr2:10566000-10572000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
36	chr2:10566200-10568800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr2:10566400-10569200	Weak transcription	Brain Anterior Caudate	brain
38	chr2:10566600-10568800	Strong transcription	Left Ventricle	heart
39	chr2:10566600-10572000	Weak transcription	Esophagus	oesophagus
40	chr2:10566600-10572200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr2:10566800-10569000	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr2:10566800-10571800	Weak transcription	NHEK	skin
43	chr2:10567000-10569200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr2:10567000-10572400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr2:10567000-10578600	Weak transcription	HSMMtube	muscle
46	chr2:10567200-10572000	Weak transcription	A549	lung
47	chr2:10567200-10572400	Weak transcription	Ovary	ovary
48	chr2:10567200-10572400	Weak transcription	HMEC	breast
49	chr2:10567200-10572400	Weak transcription	NHLF	lung
50	chr2:10567200-10572600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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