Variant report

Variant	rs540143916
Chromosome Location	chr2:95701702-95701703
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:95694636..95698537-chr2:95698705..95703366,6	MCF-7	breast:
2	chr2:95698656..95702870-chr2:95706305..95711036,7	MCF-7	breast:

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	nsv1000661	chr2:95327875-95739468	Bivalent Enhancer Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	nsv1005016	chr2:95327875-95914467	Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv1003666	chr2:95618109-95772924	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv817258	chr2:95618109-96340788	Enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
5	esv3326687	chr2:95700225-95708023	Enhancers Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	n/a
6	esv3444058	chr2:95700825-95707523	Weak transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:95692600-95702200	Weak transcription	Pancreas	Pancrea
2	chr2:95693400-95706400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
3	chr2:95693600-95702400	Enhancers	Primary T helper cells PMA-I stimulated	--
4	chr2:95694000-95703000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr2:95695200-95703800	Enhancers	Brain Angular Gyrus	brain
6	chr2:95696000-95706800	Enhancers	Brain Inferior Temporal Lobe	brain
7	chr2:95696400-95702200	Weak transcription	Gastric	stomach
8	chr2:95696800-95702000	Weak transcription	Fetal Kidney	kidney
9	chr2:95698400-95710400	Enhancers	Brain Substantia Nigra	brain
10	chr2:95698800-95702600	Genic enhancers	Thymus	Thymus
11	chr2:95699000-95702400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr2:95699000-95704200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr2:95699000-95708200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr2:95699200-95710000	Enhancers	Brain Anterior Caudate	brain
15	chr2:95699400-95704600	Enhancers	Primary T killer memory cells from peripheral blood	blood
16	chr2:95699600-95702800	Enhancers	Esophagus	oesophagus
17	chr2:95699600-95704000	Enhancers	Primary T cells fromperipheralblood	blood
18	chr2:95699800-95702200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
19	chr2:95699800-95702600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr2:95700000-95702600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
21	chr2:95700000-95710200	Enhancers	Brain Cingulate Gyrus	brain
22	chr2:95700200-95702200	Weak transcription	Lung	lung
23	chr2:95700200-95703000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
24	chr2:95700200-95703000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr2:95700200-95708000	Weak transcription	Stomach Smooth Muscle	stomach
26	chr2:95700200-95709000	Enhancers	Brain Hippocampus Middle	brain
27	chr2:95700400-95709000	Weak transcription	Dnd41	blood
28	chr2:95700800-95703400	Enhancers	Primary T helper cells fromperipheralblood	blood
29	chr2:95701200-95702200	Weak transcription	Primary T cells from cord blood	blood
30	chr2:95701200-95704000	Enhancers	Primary T helper naive cells from peripheral blood	blood
31	chr2:95701200-95708200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
32	chr2:95701400-95701800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr2:95701400-95702800	Enhancers	Fetal Thymus	thymus

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