Variant report

Variant	rs6683488
Chromosome Location	chr1:166809602-166809603
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
ENSG00000143190	Chromatin interaction
ENSG00000272205	Chromatin interaction
ENSG00000152382	Chromatin interaction
ENSG00000143179	Chromatin interaction
ENSG00000225171	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10753743	0.80[EUR][1000 genomes]
rs10800265	0.82[EUR][1000 genomes]
rs10918585	0.94[ASN][1000 genomes]
rs11803833	1.00[ASN][1000 genomes]
rs2205647	0.82[EUR][1000 genomes]
rs2272792	0.90[ASN][1000 genomes]
rs2312237	0.84[EUR][1000 genomes]
rs4657608	0.94[ASN][1000 genomes]
rs6667673	0.81[EUR][1000 genomes]
rs6670494	0.82[EUR][1000 genomes]
rs7544940	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs760536	1.00[ASN][1000 genomes]

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	chr1:166808000-166809800	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr1:166808000-166809800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr1:166808000-166809800	Active TSS	Ovary	ovary
6	chr1:166808000-166809800	Active TSS	Sigmoid Colon	Sigmoid Colon
7	chr1:166808000-166810400	Active TSS	Aorta	Aorta
8	chr1:166808200-166809800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr1:166808200-166809800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr1:166808200-166809800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
11	chr1:166808200-166809800	Active TSS	Esophagus	oesophagus
12	chr1:166808200-166810000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr1:166808200-166810200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr1:166808200-166810200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr1:166808400-166810000	Active TSS	HUES6 Cell Line	embryonic stem cell
16	chr1:166808400-166810000	Active TSS	Fetal Kidney	kidney
17	chr1:166808400-166810000	Active TSS	Pancreas	Pancrea
18	chr1:166808600-166810000	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr1:166809200-166809800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
20	chr1:166809200-166809800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
21	chr1:166809200-166809800	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
22	chr1:166809200-166809800	Flanking Active TSS	Fetal Muscle Leg	muscle
23	chr1:166809200-166809800	Flanking Active TSS	Placenta	Placenta
24	chr1:166809200-166810000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
25	chr1:166809200-166810000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
26	chr1:166809200-166810000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
27	chr1:166809200-166810000	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
28	chr1:166809200-166810000	Flanking Active TSS	Colonic Mucosa	Colon
29	chr1:166809200-166810400	Flanking Active TSS	Primary B cells from cord blood	blood
30	chr1:166809200-166810400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr1:166809200-166810400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr1:166809200-166810600	Flanking Active TSS	Primary hematopoietic stem cells	blood
33	chr1:166809200-166810600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
34	chr1:166809200-166810800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
35	chr1:166809400-166809800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr1:166809400-166809800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
37	chr1:166809400-166809800	Flanking Active TSS	Primary B cells from peripheral blood	blood
38	chr1:166809400-166809800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
39	chr1:166809400-166809800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
40	chr1:166809400-166809800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
41	chr1:166809400-166809800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
42	chr1:166809400-166809800	Flanking Active TSS	Fetal Muscle Trunk	muscle
43	chr1:166809400-166809800	Flanking Active TSS	Gastric	stomach
44	chr1:166809400-166809800	Flanking Active TSS	Placenta Amnion	Placenta Amnion
45	chr1:166809400-166809800	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
46	chr1:166809400-166809800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
47	chr1:166809400-166809800	Flanking Active TSS	Thymus	Thymus
48	chr1:166809400-166809800	Flanking Active TSS	Hela-S3	cervix
49	chr1:166809400-166809800	Flanking Bivalent TSS/Enh	HepG2	liver
50	chr1:166809400-166809800	Flanking Active TSS	HMEC	breast

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