Variant report

Variant	rs368294088
Chromosome Location	chr2:133003838-133003839
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	chr13:24087086..24087588-chr2:133003343..133003844,2	MCF-7	breast:

Extended variants
information (count: 40 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:40 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1794564	chr2:132376993-133049651	ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	48 gene(s)	inside rSNPs	diseases
2	esv3381488	chr2:132517281-133041404	ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	40 gene(s)	inside rSNPs	diseases
3	nsv875123	chr2:132564973-133127075	Weak transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	51 gene(s)	inside rSNPs	diseases
4	nsv999341	chr2:132714332-133358577	Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	52 gene(s)	inside rSNPs	diseases
5	nsv916487	chr2:132719325-133355859	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	51 gene(s)	inside rSNPs	diseases
6	nsv1009861	chr2:132719550-133358577	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	51 gene(s)	inside rSNPs	diseases
7	esv2763165	chr2:132719550-133358589	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	51 gene(s)	inside rSNPs	diseases
8	nsv431701	chr2:132722012-133356398	Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	51 gene(s)	inside rSNPs	diseases
9	nsv526029	chr2:132733281-133351415	Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	51 gene(s)	inside rSNPs	diseases
10	nsv999965	chr2:132743229-133358577	Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	49 gene(s)	inside rSNPs	diseases
11	nsv963727	chr2:132764295-133074128	ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	32 gene(s)	inside rSNPs	diseases
12	esv32851	chr2:132773312-133049072	Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Weak transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	30 gene(s)	inside rSNPs	diseases
13	nsv1011421	chr2:132895241-133682185	Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
14	nsv875133	chr2:132913175-133047873	ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Strong transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
15	esv19905	chr2:132918892-133047192	Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Weak transcription Bivalent/Poised TSS Genic enhancers Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
16	nsv963864	chr2:132952902-133015593	Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
17	nsv979281	chr2:132954929-133015593	Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
18	nsv10190	chr2:132955797-133009990	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
19	nsv583148	chr2:132957240-133035391	Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
20	esv1846952	chr2:132960079-133046397	Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
21	esv1808926	chr2:132960079-133046991	Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
22	esv1804720	chr2:132960079-133048588	ZNF genes & repeats Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
23	nsv10191	chr2:132965946-133047874	Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
24	esv3402590	chr2:132996808-133004600	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
25	esv3449465	chr2:132999977-133004865	ZNF genes & repeats Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Strong transcription Enhancers Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
26	esv3418237	chr2:133000544-133004530	Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
27	esv3451341	chr2:133001792-133004120	ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
28	esv3367424	chr2:133002425-133003901	ZNF genes & repeats Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
29	esv3426688	chr2:133002498-133003974	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
30	esv3397830	chr2:133002805-133004823	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
31	esv3337289	chr2:133003057-133004186	Weak transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
32	esv3390384	chr2:133003060-133004874	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
33	nsv820317	chr2:133003197-133049683	Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
34	nsv821716	chr2:133003197-133049683	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA	25 gene(s)	inside rSNPs	diseases
35	esv3343734	chr2:133003241-133004492	ZNF genes & repeats Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
36	esv3446242	chr2:133003336-133004635	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
37	esv3424071	chr2:133003349-133003968	ZNF genes & repeats Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
38	esv3425360	chr2:133003351-133004821	ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS	Chromatin interactive region	n/a	inside rSNPs	diseases
39	esv3338759	chr2:133003356-133004776	Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	Chromatin interactive region	n/a	inside rSNPs	diseases
40	esv2466772	chr2:133003677-133011561	Weak transcription ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:39 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:132994800-133008800	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
2	chr2:132994800-133009800	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr2:132995000-133005000	ZNF genes & repeats	Primary hematopoietic stem cells	blood
4	chr2:132996000-133009800	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
5	chr2:132996200-133005200	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
6	chr2:132996200-133008600	ZNF genes & repeats	Primary T cells from cord blood	blood
7	chr2:133002200-133004800	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
8	chr2:133002200-133009600	ZNF genes & repeats	Liver	Liver
9	chr2:133002200-133009800	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
10	chr2:133003200-133006200	ZNF genes & repeats	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr2:133003200-133011000	ZNF genes & repeats	Adipose Nuclei	Adipose
12	chr2:133003600-133004400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr2:133003600-133004400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr2:133003600-133004400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr2:133003600-133004400	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr2:133003600-133004400	Weak transcription	Brain Anterior Caudate	brain
17	chr2:133003600-133004400	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr2:133003600-133004400	Weak transcription	Colonic Mucosa	Colon
19	chr2:133003600-133004400	Weak transcription	Colon Smooth Muscle	Colon
20	chr2:133003600-133004400	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr2:133003600-133004400	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr2:133003600-133004400	Weak transcription	HUVEC	blood vessel
23	chr2:133003600-133004600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr2:133003600-133004600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr2:133003600-133004600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr2:133003600-133004600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr2:133003600-133004600	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr2:133003600-133004600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr2:133003600-133004600	Weak transcription	Aorta	Aorta
30	chr2:133003600-133004600	Weak transcription	Fetal Heart	heart
31	chr2:133003600-133004600	Weak transcription	Left Ventricle	heart
32	chr2:133003600-133004600	Weak transcription	Ovary	ovary
33	chr2:133003600-133004600	Weak transcription	Psoas Muscle	Psoas
34	chr2:133003600-133004600	Weak transcription	Small Intestine	intestine
35	chr2:133003600-133004600	Weak transcription	Stomach Mucosa	stomach
36	chr2:133003600-133004600	Weak transcription	HSMMtube	muscle
37	chr2:133003600-133004600	Weak transcription	K562	blood
38	chr2:133003600-133004600	Weak transcription	NH-A	brain
39	chr2:133003800-133004600	Weak transcription	Fetal Brain Male	brain

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