Variant report

Variant	rs559471690
Chromosome Location	chr1:228433238-228433239
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:228426358..228429102-chr1:228433065..228434825,2	MCF-7	breast:
2	chr1:228432015..228434186-chr1:228643994..228645645,2	K562	blood:

Variant related genes	Relation type
ENSG00000181218	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	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
2	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
3	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
4	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
5	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
6	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
7	nsv827019	chr1:228314167-228651020	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	106 gene(s)	inside rSNPs	diseases
8	nsv1012078	chr1:228340876-228521843	Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	63 gene(s)	inside rSNPs	diseases
9	nsv535320	chr1:228340876-228521843	Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	63 gene(s)	inside rSNPs	diseases
10	nsv873263	chr1:228391808-228494790	Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
11	nsv873264	chr1:228423647-228543800	Flanking Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
12	nsv520340	chr1:228423936-228456147	Strong transcription ZNF genes & repeats Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
13	esv3422970	chr1:228432129-228433500	ZNF genes & repeats Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:228418400-228436000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr1:228422200-228434800	ZNF genes & repeats	Dnd41	blood
3	chr1:228425800-228434200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr1:228426000-228435200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
5	chr1:228426600-228434400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr1:228427000-228435600	ZNF genes & repeats	Brain Germinal Matrix	brain
7	chr1:228427200-228434600	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr1:228428000-228433400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
9	chr1:228428200-228434200	ZNF genes & repeats	Fetal Lung	lung
10	chr1:228428200-228434600	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr1:228428200-228435000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
12	chr1:228428400-228434000	ZNF genes & repeats	Duodenum Mucosa	Duodenum
13	chr1:228428400-228434400	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
14	chr1:228428400-228434600	ZNF genes & repeats	Liver	Liver
15	chr1:228428400-228434600	ZNF genes & repeats	Fetal Intestine Large	intestine
16	chr1:228428400-228435200	ZNF genes & repeats	Primary T cells from cord blood	blood
17	chr1:228428400-228436600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
18	chr1:228428600-228433600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr1:228428600-228434400	ZNF genes & repeats	Primary T helper cells PMA-I stimulated	--
20	chr1:228428600-228434600	ZNF genes & repeats	Primary T cells fromperipheralblood	blood
21	chr1:228428600-228434800	ZNF genes & repeats	Primary T helper cells fromperipheralblood	blood
22	chr1:228428600-228435000	ZNF genes & repeats	Primary T helper naive cells fromperipheralblood	blood
23	chr1:228428600-228435000	ZNF genes & repeats	Fetal Muscle Leg	muscle
24	chr1:228428800-228434800	ZNF genes & repeats	Primary T regulatory cells fromperipheralblood	blood
25	chr1:228429000-228434800	ZNF genes & repeats	Pancreatic Islets	Pancreatic Islet
26	chr1:228429000-228439400	Strong transcription	HSMMtube	muscle
27	chr1:228430000-228435200	ZNF genes & repeats	Fetal Kidney	kidney
28	chr1:228430200-228433800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
29	chr1:228430200-228434000	ZNF genes & repeats	iPS-18 Cell Line	embryonic stem cell
30	chr1:228430200-228434600	ZNF genes & repeats	Duodenum Smooth Muscle	Duodenum
31	chr1:228430200-228435000	ZNF genes & repeats	Primary mononuclear cells fromperipheralblood	Blood
32	chr1:228430400-228433400	ZNF genes & repeats	H9 Cell Line	embryonic stem cell
33	chr1:228430400-228434400	ZNF genes & repeats	Fetal Muscle Trunk	muscle
34	chr1:228430400-228434600	ZNF genes & repeats	Spleen	Spleen
35	chr1:228430400-228434800	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
36	chr1:228430400-228434800	ZNF genes & repeats	Fetal Stomach	stomach
37	chr1:228430400-228435000	ZNF genes & repeats	A549	lung
38	chr1:228430400-228435200	ZNF genes & repeats	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr1:228430400-228435200	ZNF genes & repeats	Thymus	Thymus
40	chr1:228430400-228435800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr1:228430400-228436600	ZNF genes & repeats	Fetal Intestine Small	intestine
42	chr1:228430600-228433400	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr1:228430600-228433400	ZNF genes & repeats	Aorta	Aorta
44	chr1:228430600-228447000	Weak transcription	Stomach Smooth Muscle	stomach
45	chr1:228430800-228433400	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr1:228430800-228433400	ZNF genes & repeats	Lung	lung
47	chr1:228430800-228434600	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr1:228430800-228434600	ZNF genes & repeats	Fetal Thymus	thymus
49	chr1:228430800-228434800	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr1:228430800-228435000	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived

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