Variant report

Variant	rs548677738
Chromosome Location	chr2:111617325-111617326
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 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
8	nsv1004949	chr2:111607532-111780719	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv1002568	chr2:111607532-111781442	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv1005665	chr2:111610107-111762039	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
11	nsv535892	chr2:111610107-111762039	Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
12	nsv874841	chr2:111616304-111685789	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:111608000-111618800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
2	chr2:111610600-111623600	Weak transcription	Spleen	Spleen
3	chr2:111615600-111617600	Enhancers	HUES48 Cell Line	embryonic stem cell
4	chr2:111615600-111618600	Flanking Active TSS	Dnd41	blood
5	chr2:111615800-111617400	Enhancers	H1 Cell Line	embryonic stem cell
6	chr2:111615800-111617400	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr2:111615800-111617400	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr2:111615800-111617400	Flanking Active TSS	Primary T cells from cord blood	blood
9	chr2:111615800-111617400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
10	chr2:111615800-111617400	Flanking Active TSS	Fetal Thymus	thymus
11	chr2:111615800-111617600	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr2:111615800-111617600	Enhancers	H9 Cell Line	embryonic stem cell
13	chr2:111615800-111617600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr2:111615800-111617600	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr2:111615800-111617600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr2:111615800-111617600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr2:111615800-111617800	Enhancers	Primary B cells from peripheral blood	blood
18	chr2:111616000-111617400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr2:111616000-111619000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr2:111616200-111617400	Enhancers	HUES6 Cell Line	embryonic stem cell
21	chr2:111616400-111617400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
22	chr2:111616400-111617400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
23	chr2:111616400-111617600	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr2:111616400-111617600	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
25	chr2:111616400-111617600	Bivalent Enhancer	Fetal Stomach	stomach
26	chr2:111616400-111618400	Enhancers	Primary B cells from cord blood	blood
27	chr2:111616800-111617800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr2:111616800-111618200	Bivalent Enhancer	Fetal Muscle Leg	muscle
29	chr2:111617000-111617400	Bivalent Enhancer	Duodenum Mucosa	Duodenum
30	chr2:111617000-111617400	Enhancers	GM12878-XiMat	blood
31	chr2:111617000-111617600	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr2:111617000-111617600	Enhancers	Brain Inferior Temporal Lobe	brain
33	chr2:111617000-111618200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
34	chr2:111617000-111618800	Enhancers	Primary T cells fromperipheralblood	blood
35	chr2:111617200-111617400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
36	chr2:111617200-111617400	Bivalent Enhancer	Brain Substantia Nigra	brain
37	chr2:111617200-111617400	Enhancers	Rectal Mucosa Donor 29	rectum
38	chr2:111617200-111618400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr2:111617200-111618600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr2:111617200-111618600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
41	chr2:111617200-111619000	Enhancers	Primary T helper cells fromperipheralblood	blood
42	chr2:111617200-111619000	Enhancers	Primary T killer memory cells from peripheral blood	blood
43	chr2:111617200-111619200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr2:111617200-111619200	Enhancers	Primary T helper naive cells from peripheral blood	blood
45	chr2:111617200-111619400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
46	chr2:111617200-111619800	Enhancers	Thymus	Thymus
47	chr2:111617200-111626200	Weak transcription	Brain Cingulate Gyrus	brain

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