Variant report

Variant	rs189038538
Chromosome Location	chr6:2029569-2029570
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:1597053..1598701-chr6:2028381..2030962,2	MCF-7	breast:
2	chr6:1610286..1612830-chr6:2028603..2030738,2	MCF-7	breast:
3	chr6:1607895..1612984-chr6:2025307..2029705,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000054598	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	nsv530548	chr6:1441421-2351608	Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv931941	chr6:1768439-2246781	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
3	nsv531295	chr6:1773436-2724986	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	71 gene(s)	inside rSNPs	diseases
4	nsv1032727	chr6:1900622-2064690	Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv538095	chr6:1900622-2064690	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv883386	chr6:1910108-2122454	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv981098	chr6:2008599-2102267	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv527735	chr6:2028237-2097654	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:2006200-2034800	Weak transcription	HepG2	liver
2	chr6:2019800-2040000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr6:2022200-2030600	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr6:2022200-2031600	Weak transcription	Esophagus	oesophagus
5	chr6:2022400-2035000	Weak transcription	Gastric	stomach
6	chr6:2022400-2042800	Weak transcription	Right Atrium	heart
7	chr6:2022400-2055600	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr6:2022400-2080600	Weak transcription	Duodenum Mucosa	Duodenum
9	chr6:2026600-2030200	Weak transcription	Pancreas	Pancrea
10	chr6:2026600-2031600	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr6:2026800-2031000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
12	chr6:2027000-2035000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr6:2027200-2029800	Weak transcription	Brain Germinal Matrix	brain
14	chr6:2027400-2030600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr6:2028400-2030600	Enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr6:2028800-2029600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr6:2028800-2029600	Enhancers	A549	lung
18	chr6:2028800-2029800	Enhancers	Stomach Mucosa	stomach
19	chr6:2028800-2030000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
20	chr6:2028800-2030000	Enhancers	Hela-S3	cervix
21	chr6:2028800-2030800	Enhancers	Primary hematopoietic stem cells	blood
22	chr6:2028800-2032000	Enhancers	Fetal Thymus	thymus
23	chr6:2028800-2032600	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr6:2029000-2029600	Enhancers	Small Intestine	intestine
25	chr6:2029000-2029800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr6:2029200-2029600	Weak transcription	Thymus	Thymus
27	chr6:2029200-2030200	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr6:2029200-2030400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr6:2029200-2030600	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr6:2029200-2030600	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr6:2029200-2031800	Weak transcription	Dnd41	blood
32	chr6:2029200-2032000	Enhancers	HUVEC	blood vessel
33	chr6:2029200-2032600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr6:2029200-2037000	Weak transcription	Primary T cells from cord blood	blood
35	chr6:2029400-2029600	Enhancers	Fetal Kidney	kidney

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