Variant report

Variant	rs533381769
Chromosome Location	chr1:228870872-228870873
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:228870761..228871699-chr1:229362927..229363987,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000233920	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013051	chr1:228786702-228903706	Genic enhancers Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv997801	chr1:228786702-228975127	Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
3	nsv870365	chr1:228788356-229267904	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv998255	chr1:228791784-228919202	Enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	nsv549299	chr1:228793246-229455876	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
6	nsv468316	chr1:228854703-228919202	Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
7	nsv549300	chr1:228854703-228919202	Active TSS Enhancers Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
8	esv3405929	chr1:228869854-228872702	Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:228869800-228871000	Enhancers	Fetal Brain Male	brain
2	chr1:228870200-228872000	Active TSS	Skeletal Muscle Male	skeletal muscle
3	chr1:228870200-228875400	Active TSS	Brain Angular Gyrus	brain
4	chr1:228870400-228871000	Active TSS	Primary T killer memory cells from peripheral blood	blood
5	chr1:228870400-228871000	Flanking Bivalent TSS/Enh	Muscle Satellite Cultured Cells	--
6	chr1:228870400-228871000	Enhancers	Stomach Mucosa	stomach
7	chr1:228870400-228871000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
8	chr1:228870400-228872000	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
9	chr1:228870400-228872000	Active TSS	Fetal Stomach	stomach
10	chr1:228870400-228872200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
11	chr1:228870400-228872200	Active TSS	Rectal Mucosa Donor 29	rectum
12	chr1:228870400-228872400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
13	chr1:228870400-228872400	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr1:228870400-228872800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
15	chr1:228870400-228873200	Active TSS	Fetal Intestine Small	intestine
16	chr1:228870400-228873400	Active TSS	Fetal Intestine Large	intestine
17	chr1:228870400-228873800	Active TSS	Aorta	Aorta
18	chr1:228870400-228873800	Active TSS	Colonic Mucosa	Colon
19	chr1:228870400-228873800	Active TSS	Right Ventricle	heart
20	chr1:228870400-228874000	Active TSS	Brain Anterior Caudate	brain
21	chr1:228870400-228874200	Active TSS	Duodenum Smooth Muscle	Duodenum
22	chr1:228870600-228871000	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
23	chr1:228870600-228871000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
24	chr1:228870600-228871000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
25	chr1:228870600-228871000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
26	chr1:228870600-228871000	Flanking Active TSS	Primary hematopoietic stem cells	blood
27	chr1:228870600-228871000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
28	chr1:228870600-228871000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
29	chr1:228870600-228871000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
30	chr1:228870600-228871000	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
31	chr1:228870600-228871000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
32	chr1:228870600-228871000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
33	chr1:228870600-228871000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr1:228870600-228871000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr1:228870600-228871000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
36	chr1:228870600-228871000	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr1:228870600-228871000	Flanking Active TSS	Adipose Nuclei	Adipose
38	chr1:228870600-228871000	Flanking Active TSS	Fetal Muscle Leg	muscle
39	chr1:228870600-228871000	Flanking Active TSS	Placenta	Placenta
40	chr1:228870600-228871000	Flanking Active TSS	Fetal Thymus	thymus
41	chr1:228870600-228871000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
42	chr1:228870600-228871000	Flanking Bivalent TSS/Enh	Thymus	Thymus
43	chr1:228870600-228871000	Flanking Bivalent TSS/Enh	HMEC	breast
44	chr1:228870600-228871000	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
45	chr1:228870600-228871400	Flanking Active TSS	Primary B cells from cord blood	blood
46	chr1:228870600-228871400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr1:228870600-228871400	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr1:228870600-228871400	Bivalent/Poised TSS	Osteobl	bone
49	chr1:228870600-228871600	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr1:228870600-228871600	Active TSS	Primary mononuclear cells fromperipheralblood	Blood

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