Variant report

Variant	rs182509478
Chromosome Location	chr6:53600987-53600988
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:53514929..53516623-chr6:53599837..53602771,2	MCF-7	breast:
2	chr6:53598898..53601641-chr6:53603723..53606379,2	MCF-7	breast:

Extended variants
information (count: 2 )
Associated
traits (count: 0)

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	nsv1034955	chr6:53447607-53931055	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv1021506	chr6:53600338-53770482	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:53596000-53601600	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr6:53596000-53605600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr6:53597200-53604000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr6:53598400-53601000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr6:53598400-53601200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr6:53598400-53601400	Enhancers	Fetal Intestine Small	intestine
7	chr6:53598400-53603000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr6:53598600-53601400	Enhancers	Fetal Intestine Large	intestine
9	chr6:53599000-53601000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr6:53599200-53601200	Enhancers	Duodenum Mucosa	Duodenum
11	chr6:53599200-53603000	Enhancers	Fetal Heart	heart
12	chr6:53599400-53601000	Enhancers	GM12878-XiMat	blood
13	chr6:53599400-53601200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
14	chr6:53599400-53601200	Enhancers	Fetal Thymus	thymus
15	chr6:53599400-53601200	Enhancers	Thymus	Thymus
16	chr6:53599400-53602200	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr6:53599400-53602600	Enhancers	HSMMtube	muscle
18	chr6:53599600-53601000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr6:53599600-53601000	Enhancers	Placenta	Placenta
20	chr6:53599600-53601200	Enhancers	Primary T helper naive cells from peripheral blood	blood
21	chr6:53599600-53601200	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr6:53599600-53601200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
23	chr6:53599800-53601000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr6:53599800-53601000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
25	chr6:53599800-53601000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
26	chr6:53599800-53601000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr6:53599800-53601000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr6:53599800-53601000	Enhancers	Monocytes-CD14+_RO01746	blood
29	chr6:53599800-53601200	Enhancers	Primary T cells from cord blood	blood
30	chr6:53599800-53601200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
31	chr6:53599800-53601200	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr6:53599800-53601400	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr6:53599800-53601600	Enhancers	Primary hematopoietic stem cells	blood
34	chr6:53599800-53602800	Enhancers	Brain Germinal Matrix	brain
35	chr6:53599800-53603000	Enhancers	HUVEC	blood vessel
36	chr6:53599800-53603200	Enhancers	NHEK	skin
37	chr6:53599800-53606200	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr6:53600000-53601000	Enhancers	HMEC	breast
39	chr6:53600000-53601200	Enhancers	Primary neutrophils fromperipheralblood	blood
40	chr6:53600000-53601200	Enhancers	Primary T killer memory cells from peripheral blood	blood
41	chr6:53600000-53601400	Enhancers	Hela-S3	cervix
42	chr6:53600000-53605800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr6:53600400-53601000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr6:53600400-53601400	Weak transcription	NH-A	brain
45	chr6:53600400-53601800	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr6:53600800-53601000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr6:53600800-53602000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr6:53600800-53602000	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr6:53600800-53602000	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr6:53600800-53603600	Enhancers	Dnd41	blood

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