Variant report

Variant	rs148630829
Chromosome Location	chr1:228247196-228247197
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:228242970..228244835-chr1:228244981..228247673,2	MCF-7	breast:
2	chr1:228193180..228197909-chr1:228245616..228249822,4	MCF-7	breast:
3	chr1:228245943..228247915-chr1:228251913..228254649,3	K562	blood:
4	chr1:228244560..228247525-chr1:228272017..228274884,2	MCF-7	breast:
5	chr1:228246811..228249127-chr1:228257869..228259965,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000154342	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010605	chr1:227770415-228332690	Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	esv32853	chr1:227880116-228806209	Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
3	nsv427952	chr1:227881664-228308629	Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv826908	chr1:227895386-228691100	Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
5	nsv516409	chr1:228035131-228296745	Enhancers Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription 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 miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
6	nsv523935	chr1:228038124-228681749	Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	137 gene(s)	inside rSNPs	diseases
7	nsv832803	chr1:228155118-228313681	Transcr. at gene 5' and 3' Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
8	nsv873252	chr1:228174528-228371551	Strong transcription Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
9	esv1814215	chr1:228231601-228259932	Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats	Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
10	esv1844252	chr1:228231601-228259932	Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer ZNF genes & repeats	Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
11	nsv873253	chr1:228231601-228537942	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
12	nsv873254	chr1:228231601-228543800	Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
13	nsv826964	chr1:228246802-228247654	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:228246000-228247200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
2	chr1:228246200-228248800	ZNF genes & repeats	Spleen	Spleen
3	chr1:228246400-228247600	Bivalent Enhancer	Placenta	Placenta
4	chr1:228246400-228248200	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr1:228246600-228247200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
6	chr1:228246600-228247200	Bivalent/Poised TSS	Primary neutrophils fromperipheralblood	blood
7	chr1:228246600-228247200	Bivalent/Poised TSS	Primary T cells from cord blood	blood
8	chr1:228246600-228247200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr1:228246600-228247200	ZNF genes & repeats	Lung	lung
10	chr1:228246600-228247200	Flanking Active TSS	Pancreas	Pancrea
11	chr1:228246600-228247400	Bivalent/Poised TSS	Primary T killer naive cells fromperipheralblood	blood
12	chr1:228246600-228247400	Bivalent/Poised TSS	Primary mononuclear cells fromperipheralblood	Blood
13	chr1:228246600-228247600	Bivalent Enhancer	Stomach Mucosa	stomach
14	chr1:228246600-228248200	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
15	chr1:228246600-228248200	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
16	chr1:228246600-228248200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr1:228246600-228248400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
18	chr1:228246600-228249000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
19	chr1:228246600-228249000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
20	chr1:228246600-228249000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
21	chr1:228246600-228249000	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
22	chr1:228246800-228247200	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
23	chr1:228246800-228247200	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr1:228246800-228247200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
25	chr1:228246800-228247200	Bivalent/Poised TSS	Primary hematopoietic stem cells	blood
26	chr1:228246800-228247200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
27	chr1:228246800-228247200	Active TSS	Primary T helper naive cells from peripheral blood	blood
28	chr1:228246800-228247200	Active TSS	Primary T helper naive cells fromperipheralblood	blood
29	chr1:228246800-228247200	Flanking Active TSS	Gastric	stomach
30	chr1:228246800-228247200	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
31	chr1:228246800-228247200	Flanking Bivalent TSS/Enh	A549	lung
32	chr1:228246800-228247200	Flanking Bivalent TSS/Enh	HMEC	breast
33	chr1:228246800-228247400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
34	chr1:228246800-228247400	Flanking Bivalent TSS/Enh	Primary B cells from peripheral blood	blood
35	chr1:228246800-228247400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr1:228246800-228247400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr1:228246800-228247400	Bivalent/Poised TSS	Thymus	Thymus
38	chr1:228246800-228247600	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
39	chr1:228246800-228247600	Bivalent Enhancer	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr1:228246800-228247600	Bivalent Enhancer	Adipose Nuclei	Adipose
41	chr1:228246800-228247800	Bivalent Enhancer	Fetal Heart	heart
42	chr1:228246800-228248000	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
43	chr1:228246800-228248000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
44	chr1:228246800-228248000	Bivalent/Poised TSS	NHEK	skin
45	chr1:228246800-228248200	Active TSS	Breast Myoepithelial Primary Cells	Breast
46	chr1:228246800-228248600	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
47	chr1:228246800-228249000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
48	chr1:228247000-228247200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr1:228247000-228247200	Bivalent Enhancer	Primary B cells from cord blood	blood
50	chr1:228247000-228247200	Active TSS	Primary T helper 17 cells PMA-I stimulated	--

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