Variant report

Variant	rs531188750
Chromosome Location	chr6:5472631-5472632
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	chr6:5470498..5472871-chr6:6545581..6547972,2	MCF-7	breast:
2	chr6:5471400..5474244-chr6:6052015..6054966,2	MCF-7	breast:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019428	chr6:5216835-5627839	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv538118	chr6:5216835-5627839	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv883418	chr6:5307432-5501389	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
4	nsv1034607	chr6:5311590-5573514	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv538120	chr6:5311590-5573514	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv916361	chr6:5315853-5695486	Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv1023027	chr6:5377308-5556749	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv538121	chr6:5377308-5556749	Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv600886	chr6:5426265-5511614	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
10	nsv1017506	chr6:5443538-5551125	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
11	esv3371810	chr6:5472602-5472887	Weak transcription Enhancers Flanking Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:5434200-5487000	Weak transcription	Aorta	Aorta
2	chr6:5449000-5499400	Weak transcription	Fetal Intestine Large	intestine
3	chr6:5456400-5486000	Weak transcription	Thymus	Thymus
4	chr6:5457400-5481200	Weak transcription	Stomach Smooth Muscle	stomach
5	chr6:5457800-5487400	Weak transcription	Fetal Intestine Small	intestine
6	chr6:5458800-5483000	Weak transcription	Pancreas	Pancrea
7	chr6:5459000-5486400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr6:5461600-5507200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr6:5466400-5518200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
10	chr6:5466600-5506400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr6:5466800-5502200	Weak transcription	Gastric	stomach
12	chr6:5467200-5477000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr6:5467200-5477600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr6:5467200-5487400	Weak transcription	Lung	lung
15	chr6:5468400-5487800	Weak transcription	Primary B cells from cord blood	blood
16	chr6:5469800-5481200	Weak transcription	Esophagus	oesophagus
17	chr6:5471000-5473600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr6:5471200-5472800	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr6:5471200-5473200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr6:5471200-5474400	Weak transcription	K562	blood
21	chr6:5471400-5473000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr6:5471400-5473200	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr6:5471400-5473200	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr6:5471400-5473200	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr6:5471400-5473200	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr6:5471400-5474400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
27	chr6:5471400-5481000	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr6:5471600-5473600	Enhancers	Fetal Brain Male	brain
29	chr6:5471600-5487400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr6:5471800-5472800	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr6:5471800-5473400	Enhancers	H1 Cell Line	embryonic stem cell
32	chr6:5471800-5489400	Weak transcription	Small Intestine	intestine
33	chr6:5471800-5505800	Weak transcription	Primary B cells from peripheral blood	blood
34	chr6:5472000-5473400	Enhancers	HUES48 Cell Line	embryonic stem cell
35	chr6:5472200-5472800	Enhancers	H9 Cell Line	embryonic stem cell
36	chr6:5472200-5472800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr6:5472200-5472800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
38	chr6:5472200-5473000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
39	chr6:5472200-5481200	Weak transcription	Primary T cells from cord blood	blood
40	chr6:5472200-5481200	Weak transcription	Left Ventricle	heart
41	chr6:5472200-5487400	Weak transcription	Primary T cells fromperipheralblood	blood
42	chr6:5472400-5472800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr6:5472400-5472800	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
44	chr6:5472400-5473400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr6:5472400-5474000	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr6:5472400-5511600	Weak transcription	Fetal Stomach	stomach
47	chr6:5472600-5473200	Enhancers	Brain Anterior Caudate	brain
48	chr6:5472600-5473200	Enhancers	Brain Hippocampus Middle	brain
49	chr6:5472600-5473200	Enhancers	Fetal Brain Female	brain
50	chr6:5472600-5473400	Enhancers	Brain Germinal Matrix	brain

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