Variant report

Variant	rs553812766
Chromosome Location	chr2:111605330-111605331
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:111604170..111606952-chr2:111619066..111621745,2	MCF-7	breast:
2	chr2:111603779..111605764-chr2:111610713..111613145,2	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv874838	chr2:111376870-112046226	Weak transcription Strong transcription ZNF genes & repeats Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv874839	chr2:111400934-111868010	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1008758	chr2:111415136-111626467	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	nsv535890	chr2:111415136-111626467	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv997829	chr2:111486961-111780537	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv834330	chr2:111593290-111789447	Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv874840	chr2:111605245-111695479	Weak transcription Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	Chromatin interactive region	1 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	chr2:111596400-111611600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr2:111596800-111609600	Weak transcription	Primary hematopoietic stem cells	blood
3	chr2:111597000-111611400	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr2:111599000-111606800	Enhancers	Fetal Thymus	thymus
5	chr2:111600800-111607600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr2:111601400-111611000	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr2:111601600-111609200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr2:111601800-111606000	Weak transcription	Fetal Muscle Trunk	muscle
9	chr2:111601800-111609400	Weak transcription	Spleen	Spleen
10	chr2:111601800-111611600	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr2:111603200-111605800	Enhancers	Primary T killer memory cells from peripheral blood	blood
12	chr2:111603200-111607000	Enhancers	Primary T cells from cord blood	blood
13	chr2:111603400-111606200	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr2:111603400-111606400	Enhancers	Fetal Brain Male	brain
15	chr2:111603400-111606600	Enhancers	Primary T cells fromperipheralblood	blood
16	chr2:111603400-111606800	Enhancers	Dnd41	blood
17	chr2:111603600-111606800	Enhancers	Thymus	Thymus
18	chr2:111603800-111605600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr2:111603800-111605800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr2:111603800-111606000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
21	chr2:111603800-111606200	Enhancers	Primary T helper cells fromperipheralblood	blood
22	chr2:111604000-111605400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr2:111604000-111605400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr2:111604000-111605800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr2:111604000-111606400	Enhancers	GM12878-XiMat	blood
26	chr2:111604000-111611600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr2:111604200-111605600	Enhancers	Primary B cells from peripheral blood	blood
28	chr2:111604600-111606600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
29	chr2:111604600-111609800	Weak transcription	Primary B cells from cord blood	blood
30	chr2:111604800-111606000	Enhancers	Fetal Brain Female	brain
31	chr2:111604800-111615800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr2:111605000-111605600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
33	chr2:111605000-111606000	Enhancers	Primary T helper naive cells from peripheral blood	blood
34	chr2:111605000-111606200	Weak transcription	H1 Cell Line	embryonic stem cell
35	chr2:111605000-111606200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr2:111605000-111606400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr2:111605000-111609000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr2:111605000-111609400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr2:111605000-111611600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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