Variant report

Variant	rs565227625
Chromosome Location	chr1:166809852-166809853
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:166805232..166812474-chr1:166842359..166847542,11	MCF-7	breast:
2	chr1:166805959..166811139-chr1:166841080..166848642,15	MCF-7	breast:
3	chr1:165795265..165796893-chr1:166808551..166810494,2	K562	blood:
4	chr1:166807390..166809881-chr1:167187703..167190795,4	MCF-7	breast:
5	chr1:166806593..166810261-chr1:166844073..166846866,6	K562	blood:
6	chr1:166808237..166810193-chr1:166835815..166838073,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000143179	Chromatin interaction
ENSG00000143190	Chromatin interaction
ENSG00000225171	Chromatin interaction
ENSG00000272205	Chromatin interaction
ENSG00000152382	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv916491	chr1:166000783-166948513	Bivalent/Poised TSS Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	esv3344806	chr1:166807953-166810501	Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	n/a
3	esv3427862	chr1:166808053-166810151	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:166807800-166810000	Active TSS	H1 Cell Line	embryonic stem cell
2	chr1:166807800-166810400	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr1:166808000-166810400	Active TSS	Aorta	Aorta
4	chr1:166808200-166810000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr1:166808200-166810200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr1:166808200-166810200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr1:166808400-166810000	Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr1:166808400-166810000	Active TSS	Fetal Kidney	kidney
9	chr1:166808400-166810000	Active TSS	Pancreas	Pancrea
10	chr1:166808600-166810000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr1:166809200-166810000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
12	chr1:166809200-166810000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
13	chr1:166809200-166810000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
14	chr1:166809200-166810000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
15	chr1:166809200-166810000	Flanking Active TSS	Colonic Mucosa	Colon
16	chr1:166809200-166810400	Flanking Active TSS	Primary B cells from cord blood	blood
17	chr1:166809200-166810400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr1:166809200-166810400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr1:166809200-166810600	Flanking Active TSS	Primary hematopoietic stem cells	blood
20	chr1:166809200-166810600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
21	chr1:166809200-166810800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
22	chr1:166809400-166810000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr1:166809400-166810000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
24	chr1:166809400-166810000	Flanking Active TSS	Primary T cells from cord blood	blood
25	chr1:166809400-166810000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
26	chr1:166809400-166810000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
27	chr1:166809400-166810000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
28	chr1:166809400-166810000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr1:166809400-166810000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
30	chr1:166809400-166810000	Flanking Active TSS	Fetal Thymus	thymus
31	chr1:166809400-166810000	Flanking Active TSS	Stomach Smooth Muscle	stomach
32	chr1:166809400-166810000	Flanking Active TSS	HSMM	muscle
33	chr1:166809400-166810200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
34	chr1:166809400-166810200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr1:166809400-166810200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr1:166809400-166810200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr1:166809400-166810200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr1:166809400-166810200	Flanking Active TSS	Liver	Liver
39	chr1:166809400-166810200	Flanking Active TSS	Brain Substantia Nigra	brain
40	chr1:166809400-166810200	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
41	chr1:166809400-166810200	Flanking Active TSS	Fetal Lung	lung
42	chr1:166809400-166810200	Flanking Active TSS	Fetal Stomach	stomach
43	chr1:166809400-166810200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
44	chr1:166809400-166810200	Flanking Active TSS	Osteobl	bone
45	chr1:166809400-166810400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr1:166809400-166810400	Flanking Active TSS	Adipose Nuclei	Adipose
47	chr1:166809400-166810400	Flanking Active TSS	Brain Angular Gyrus	brain
48	chr1:166809400-166810400	Flanking Active TSS	Brain Cingulate Gyrus	brain
49	chr1:166809400-166810400	Flanking Active TSS	Brain Germinal Matrix	brain
50	chr1:166809400-166810400	Flanking Active TSS	Brain Hippocampus Middle	brain

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