Variant report

Variant	rs538085404
Chromosome Location	chr1:224606385-224606386
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:224604661..224609524-chr1:224620120..224624801,9	MCF-7	breast:
2	chr1:224595004..224596638-chr1:224604243..224607134,2	K562	blood:
3	chr1:224595604..224598812-chr1:224605790..224608888,3	MCF-7	breast:
4	chr1:224604963..224607322-chr1:224610128..224612873,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000162923	Chromatin interaction
ENSG00000143786	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv8868	chr1:224383023-224752531	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv469889	chr1:224440354-224634374	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv482318	chr1:224440354-224634374	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
4	nsv1014717	chr1:224551939-224885543	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv535311	chr1:224551939-224885543	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv1013149	chr1:224605943-224646382	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
7	nsv535312	chr1:224605943-224646382	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224547400-224618600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:224572000-224617800	Strong transcription	Fetal Thymus	thymus
3	chr1:224572400-224617600	Strong transcription	Placenta	Placenta
4	chr1:224572600-224617600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:224572600-224617600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr1:224572600-224618400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
7	chr1:224573200-224618400	Strong transcription	HUES48 Cell Line	embryonic stem cell
8	chr1:224573200-224618400	Strong transcription	HUES6 Cell Line	embryonic stem cell
9	chr1:224573600-224614200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr1:224573600-224618200	Strong transcription	HUES64 Cell Line	embryonic stem cell
11	chr1:224573800-224615200	Strong transcription	Rectal Mucosa Donor 29	rectum
12	chr1:224574000-224613600	Strong transcription	Adipose Nuclei	Adipose
13	chr1:224574600-224613600	Strong transcription	Duodenum Mucosa	Duodenum
14	chr1:224575000-224607600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
15	chr1:224575200-224607600	Strong transcription	Fetal Intestine Large	intestine
16	chr1:224575200-224613800	Strong transcription	H1 Cell Line	embryonic stem cell
17	chr1:224575200-224616600	Strong transcription	Dnd41	blood
18	chr1:224575200-224616800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr1:224576200-224614000	Strong transcription	Fetal Muscle Trunk	muscle
20	chr1:224576400-224614600	Strong transcription	HSMM	muscle
21	chr1:224577000-224617400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr1:224578800-224614000	Strong transcription	Primary neutrophils fromperipheralblood	blood
23	chr1:224578800-224617200	Strong transcription	Liver	Liver
24	chr1:224579600-224617400	Strong transcription	Monocytes-CD14+_RO01746	blood
25	chr1:224579800-224616000	Strong transcription	Primary monocytes fromperipheralblood	blood
26	chr1:224581800-224615800	Strong transcription	K562	blood
27	chr1:224589000-224611200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr1:224590400-224612600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr1:224591200-224613000	Strong transcription	Primary T helper cells fromperipheralblood	blood
30	chr1:224591400-224607800	Strong transcription	Primary T helper cells PMA-I stimulated	--
31	chr1:224593400-224617000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr1:224593800-224613600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr1:224595400-224613400	Strong transcription	Duodenum Smooth Muscle	Duodenum
34	chr1:224595400-224618000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
35	chr1:224595600-224613200	Strong transcription	HUVEC	blood vessel
36	chr1:224596000-224608800	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr1:224596200-224614400	Strong transcription	NHDF-Ad	bronchial
38	chr1:224596200-224614600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr1:224596200-224615400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr1:224596600-224611600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr1:224596600-224614200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr1:224596600-224614600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr1:224596800-224614200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr1:224597200-224607800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr1:224597200-224613600	Strong transcription	Sigmoid Colon	Sigmoid Colon
46	chr1:224597600-224612200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr1:224597600-224616200	Strong transcription	Primary T cells fromperipheralblood	blood
48	chr1:224598200-224617000	Strong transcription	Fetal Muscle Leg	muscle
49	chr1:224598400-224612400	Strong transcription	Brain Substantia Nigra	brain
50	chr1:224598800-224609000	Weak transcription	Esophagus	oesophagus

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