Variant report

Variant	rs184854491
Chromosome Location	chr1:228290213-228290214
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:228290161..228291112-chr1:228353017..228354235,3	K562	blood:
2	chr1:228289389..228292049-chr1:228333496..228335357,2	K562	blood:
3	chr1:228290061..228293195-chr1:228643504..228645569,3	K562	blood:
4	chr1:228284520..228292111-chr1:228324853..228335412,14	K562	blood:
5	chr1:228289424..228292369-chr1:228333748..228336393,2	MCF-7	breast:
6	chr1:228186714..228188137-chr1:228289568..228290450,5	MCF-7	breast:
7	chr1:227915693..227918216-chr1:228290174..228292173,2	MCF-7	breast:
8	chr1:228289288..228292230-chr1:228352223..228354730,2	MCF-7	breast:
9	chr1:228288459..228290327-chr1:228338206..228340411,2	K562	blood:
10	chr1:227921116..227923050-chr1:228289460..228292114,2	MCF-7	breast:
11	chr1:228288384..228298705-chr1:228351640..228357240,26	K562	blood:
12	chr1:228289703..228291795-chr1:228462279..228463838,2	K562	blood:
13	chr1:228288054..228293498-chr1:228351743..228355627,9	K562	blood:
14	chr1:228286712..228292079-chr1:228327501..228330420,5	MCF-7	breast:
15	chr1:228288649..228293430-chr1:228325997..228329591,7	K562	blood:
16	chr1:228289454..228291459-chr1:228353037..228354863,4	MCF-7	breast:
17	chr1:228186659..228187602-chr1:228289825..228290605,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000143774	Chromatin interaction
ENSG00000081692	Chromatin interaction
ENSG00000143740	Chromatin interaction
ENSG00000181873	Chromatin interaction
ENSG00000181218	Chromatin interaction
ENSG00000269934	Chromatin interaction
ENSG00000203684	Chromatin interaction

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	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	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
10	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
11	nsv873255	chr1:228254753-228684779	Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	133 gene(s)	inside rSNPs	diseases
12	esv3425625	chr1:228289354-228292202	Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:228288600-228290400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
2	chr1:228289000-228290400	Flanking Active TSS	Colonic Mucosa	Colon
3	chr1:228289200-228291400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr1:228289200-228291400	Active TSS	Hela-S3	cervix
5	chr1:228289200-228291800	Active TSS	HSMM	muscle
6	chr1:228289200-228292000	Active TSS	H1 Cell Line	embryonic stem cell
7	chr1:228289400-228290400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
8	chr1:228289400-228290400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
9	chr1:228289400-228290400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
10	chr1:228289400-228290400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr1:228289400-228290400	Flanking Active TSS	Dnd41	blood
12	chr1:228289400-228290600	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr1:228289400-228290600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr1:228289400-228291400	Active TSS	K562	blood
15	chr1:228289400-228291400	Active TSS	Osteobl	bone
16	chr1:228289400-228291600	Active TSS	iPS-20b Cell Line	embryonic stem cell
17	chr1:228289400-228291600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr1:228289400-228291600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr1:228289400-228291600	Active TSS	Pancreatic Islets	Pancreatic Islet
20	chr1:228289400-228292000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr1:228289400-228292000	Active TSS	HUES6 Cell Line	embryonic stem cell
22	chr1:228289400-228292000	Active TSS	HUES64 Cell Line	embryonic stem cell
23	chr1:228289400-228292000	Active TSS	iPS-15b Cell Line	embryonic stem cell
24	chr1:228289600-228290400	Flanking Active TSS	Primary B cells from cord blood	blood
25	chr1:228289600-228290400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
26	chr1:228289600-228290400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr1:228289600-228290400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr1:228289600-228290400	Flanking Active TSS	Adipose Nuclei	Adipose
29	chr1:228289600-228290400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
30	chr1:228289600-228290400	Flanking Active TSS	Fetal Muscle Trunk	muscle
31	chr1:228289600-228290400	Flanking Active TSS	Placenta	Placenta
32	chr1:228289600-228290400	Flanking Active TSS	Fetal Thymus	thymus
33	chr1:228289600-228290400	Flanking Active TSS	Pancreas	Pancrea
34	chr1:228289600-228290400	Flanking Active TSS	Stomach Smooth Muscle	stomach
35	chr1:228289600-228290400	Flanking Active TSS	Thymus	Thymus
36	chr1:228289600-228290400	Flanking Active TSS	Spleen	Spleen
37	chr1:228289600-228290600	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
38	chr1:228289600-228291000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
39	chr1:228289600-228291200	Active TSS	Muscle Satellite Cultured Cells	--
40	chr1:228289600-228291200	Active TSS	Small Intestine	intestine
41	chr1:228289600-228291400	Active TSS	Primary T helper cells PMA-I stimulated	--
42	chr1:228289600-228291400	Active TSS	Fetal Intestine Small	intestine
43	chr1:228289600-228291400	Active TSS	Gastric	stomach
44	chr1:228289600-228291400	Active TSS	HepG2	liver
45	chr1:228289600-228291600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr1:228289600-228291600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr1:228289600-228291600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr1:228289600-228291600	Active TSS	Sigmoid Colon	Sigmoid Colon
49	chr1:228289600-228291600	Active TSS	NHDF-Ad	bronchial
50	chr1:228289600-228291800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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