Variant report

Variant	rs572554643
Chromosome Location	chr1:166809448-166809449
allele	C/G
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
ENSG00000152382	Chromatin interaction
ENSG00000225171	Chromatin interaction
ENSG00000272205	Chromatin interaction
ENSG00000143190	Chromatin interaction
ENSG00000143179	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	chr1:166807600-166809600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr1:166807800-166809600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
3	chr1:166807800-166809600	Active TSS	Psoas Muscle	Psoas
4	chr1:166807800-166810000	Active TSS	H1 Cell Line	embryonic stem cell
5	chr1:166807800-166810400	Active TSS	Pancreatic Islets	Pancreatic Islet
6	chr1:166808000-166809600	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr1:166808000-166809600	Active TSS	H9 Cell Line	embryonic stem cell
8	chr1:166808000-166809600	Active TSS	iPS-15b Cell Line	embryonic stem cell
9	chr1:166808000-166809600	Active TSS	Fetal Brain Female	brain
10	chr1:166808000-166809600	Active TSS	Right Ventricle	heart
11	chr1:166808000-166809800	Active TSS	HUES64 Cell Line	embryonic stem cell
12	chr1:166808000-166809800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr1:166808000-166809800	Active TSS	Ovary	ovary
14	chr1:166808000-166809800	Active TSS	Sigmoid Colon	Sigmoid Colon
15	chr1:166808000-166810400	Active TSS	Aorta	Aorta
16	chr1:166808200-166809600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr1:166808200-166809600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr1:166808200-166809600	Active TSS	Brain Inferior Temporal Lobe	brain
19	chr1:166808200-166809600	Active TSS	HSMMtube	muscle
20	chr1:166808200-166809800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr1:166808200-166809800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr1:166808200-166809800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
23	chr1:166808200-166809800	Active TSS	Esophagus	oesophagus
24	chr1:166808200-166810000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr1:166808200-166810200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr1:166808200-166810200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr1:166808400-166809600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr1:166808400-166809600	Active TSS	HUES48 Cell Line	embryonic stem cell
29	chr1:166808400-166809600	Active TSS	iPS-20b Cell Line	embryonic stem cell
30	chr1:166808400-166809600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr1:166808400-166809600	Active TSS	Brain Anterior Caudate	brain
32	chr1:166808400-166809600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
33	chr1:166808400-166809600	Active TSS	Left Ventricle	heart
34	chr1:166808400-166809600	Active TSS	Lung	lung
35	chr1:166808400-166809600	Active TSS	A549	lung
36	chr1:166808400-166809600	Active TSS	NHEK	skin
37	chr1:166808400-166809600	Active TSS	NHLF	lung
38	chr1:166808400-166810000	Active TSS	HUES6 Cell Line	embryonic stem cell
39	chr1:166808400-166810000	Active TSS	Fetal Kidney	kidney
40	chr1:166808400-166810000	Active TSS	Pancreas	Pancrea
41	chr1:166808600-166809600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr1:166808600-166809600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr1:166808600-166810000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr1:166808800-166809600	Active TSS	Right Atrium	heart
45	chr1:166809200-166809600	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
46	chr1:166809200-166809600	Flanking Active TSS	Dnd41	blood
47	chr1:166809200-166809600	Flanking Active TSS	K562	blood
48	chr1:166809200-166809800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
49	chr1:166809200-166809800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
50	chr1:166809200-166809800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood

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