Variant report

Variant	rs544504479
Chromosome Location	chr1:165815117-165815118
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:165737448..165739670-chr1:165814972..165816796,2	MCF-7	breast:
2	chr1:165795334..165798392-chr1:165814292..165816281,3	MCF-7	breast:
3	chr1:165812134..165815476-chr1:165816977..165818639,3	K562	blood:
4	chr1:165806807..165812397-chr1:165814507..165819170,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000224358	Chromatin interaction
ENSG00000143179	Chromatin interaction
ENSG00000143183	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2756102	chr1:165652342-165877342	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	esv2830094	chr1:165785503-165840411	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	31 gene(s)	inside rSNPs	diseases
3	nsv548097	chr1:165797966-165825166	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	23 gene(s)	inside rSNPs	diseases
4	esv2755529	chr1:165813862-165858354	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:165799000-165818200	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr1:165799200-165815800	Weak transcription	Rectal Mucosa Donor 29	rectum
3	chr1:165810800-165817000	Enhancers	Fetal Thymus	thymus
4	chr1:165811200-165817000	Enhancers	Thymus	Thymus
5	chr1:165812000-165816600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr1:165812200-165820200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr1:165812200-165820200	Weak transcription	Spleen	Spleen
8	chr1:165812200-165823200	Weak transcription	Aorta	Aorta
9	chr1:165812200-165823200	Weak transcription	Fetal Stomach	stomach
10	chr1:165812200-165823400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr1:165812400-165815600	Enhancers	K562	blood
12	chr1:165812400-165818400	Weak transcription	Right Atrium	heart
13	chr1:165812400-165820200	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr1:165812400-165820200	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr1:165812400-165820200	Weak transcription	Cortex derived primary cultured neurospheres	brain
16	chr1:165812400-165820200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr1:165812400-165820200	Weak transcription	HSMMtube	muscle
18	chr1:165812400-165820400	Weak transcription	HUES48 Cell Line	embryonic stem cell
19	chr1:165812400-165820400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr1:165812400-165821800	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr1:165812400-165822200	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr1:165812400-165823200	Weak transcription	Left Ventricle	heart
23	chr1:165812400-165823200	Weak transcription	Right Ventricle	heart
24	chr1:165812400-165823200	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr1:165812600-165820200	Weak transcription	Fetal Intestine Small	intestine
26	chr1:165812600-165820400	Weak transcription	Fetal Heart	heart
27	chr1:165812600-165821800	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr1:165812800-165815600	Weak transcription	Primary hematopoietic stem cells	blood
29	chr1:165812800-165818400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr1:165812800-165818400	Weak transcription	HMEC	breast
31	chr1:165812800-165820200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr1:165812800-165820200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr1:165812800-165820200	Weak transcription	NHEK	skin
34	chr1:165812800-165820200	Weak transcription	Osteobl	bone
35	chr1:165813000-165815600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr1:165813000-165817600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr1:165813000-165818000	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr1:165813000-165818000	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr1:165813000-165820200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr1:165813000-165820200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr1:165813000-165820200	Weak transcription	NH-A	brain
42	chr1:165813000-165820200	Weak transcription	NHDF-Ad	bronchial
43	chr1:165813000-165821800	Weak transcription	NHLF	lung
44	chr1:165813000-165823200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr1:165813400-165815400	Weak transcription	Stomach Mucosa	stomach
46	chr1:165813800-165815400	Enhancers	Pancreas	Pancrea
47	chr1:165813800-165815800	Enhancers	Gastric	stomach
48	chr1:165813800-165818400	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr1:165813800-165820200	Weak transcription	Psoas Muscle	Psoas
50	chr1:165813800-165821800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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