Variant report

Variant	rs6688111
Chromosome Location	chr1:93914461-93914462
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:93912251..93917174-chr1:94311554..94314483,6	MCF-7	breast:
2	chr1:93811133..93814005-chr1:93913050..93915053,2	MCF-7	breast:
3	chr1:93544684..93546350-chr1:93912663..93915157,2	MCF-7	breast:
4	chr1:93543927..93545832-chr1:93912304..93915209,2	K562	blood:
5	chr1:93913254..93915566-chr1:94049347..94051024,2	MCF-7	breast:
6	chr1:93913059..93915471-chr1:94146480..94149352,2	MCF-7	breast:
7	chr1:93912994..93915026-chr1:93952273..93954304,2	K562	blood:
8	chr1:93910284..93912598-chr1:93914340..93918021,4	K562	blood:
9	chr1:93912275..93915051-chr1:94031554..94034394,3	MCF-7	breast:
10	chr1:93913672..93914514-chr12:64845363..64846235,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
ENSG00000212601	Chromatin interaction
ENSG00000211575	Chromatin interaction
ENSG00000223745	Chromatin interaction
ENSG00000260464	Chromatin interaction
ENSG00000183735	Chromatin interaction
ENSG00000137936	Chromatin interaction
ENSG00000143033	Chromatin interaction
ENSG00000117505	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs1079750	0.81[EUR][1000 genomes]
rs11164926	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs11164930	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs11164940	0.84[EUR][1000 genomes]
rs11811006	0.89[EUR][1000 genomes]
rs12060221	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12062584	0.86[EUR][1000 genomes]
rs12069440	0.87[EUR][1000 genomes]
rs12086857	0.83[EUR][1000 genomes]
rs12096122	0.87[EUR][1000 genomes]
rs12096561	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12409932	0.81[EUR][1000 genomes]
rs1582773	0.89[EUR][1000 genomes]
rs17109951	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17109997	0.86[EUR][1000 genomes]
rs17387059	0.81[EUR][1000 genomes]
rs1895903	0.89[EUR][1000 genomes]
rs2011212	0.94[EUR][1000 genomes]
rs2081568	0.93[EUR][1000 genomes]
rs2624437	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs57710451	0.91[EUR][1000 genomes]
rs59792151	0.94[EUR][1000 genomes]
rs61580948	0.94[EUR][1000 genomes]
rs67012296	0.94[EUR][1000 genomes]
rs72721009	0.84[EUR][1000 genomes]
rs72721010	0.84[EUR][1000 genomes]
rs72721014	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72721019	0.84[EUR][1000 genomes]
rs72961351	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7339890	0.91[EUR][1000 genomes]
rs7539210	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7541984	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7553695	0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs900310	0.91[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv871640	chr1:93807122-93953469	Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93912200-93914800	Active TSS	Rectal Mucosa Donor 29	rectum
2	chr1:93912400-93915400	Active TSS	Fetal Lung	lung
3	chr1:93912400-93915400	Active TSS	Rectal Smooth Muscle	rectum
4	chr1:93912400-93915600	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr1:93912400-93915800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:93912400-93916200	Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr1:93912600-93914600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
8	chr1:93912600-93914600	Active TSS	Placenta	Placenta
9	chr1:93912600-93914800	Active TSS	Colon Smooth Muscle	Colon
10	chr1:93912600-93915000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr1:93912600-93915200	Active TSS	Esophagus	oesophagus
12	chr1:93912600-93915200	Active TSS	Left Ventricle	heart
13	chr1:93912600-93915200	Active TSS	Lung	lung
14	chr1:93912600-93915200	Active TSS	Pancreas	Pancrea
15	chr1:93912600-93915400	Active TSS	Fetal Brain Male	brain
16	chr1:93912600-93915400	Active TSS	Right Ventricle	heart
17	chr1:93912600-93916600	Active TSS	ES-I3 Cell Line	embryonic stem cell
18	chr1:93912800-93914600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
19	chr1:93912800-93914600	Active TSS	Brain Angular Gyrus	brain
20	chr1:93912800-93914600	Active TSS	Placenta Amnion	Placenta Amnion
21	chr1:93912800-93915000	Bivalent/Poised TSS	HepG2	liver
22	chr1:93912800-93915200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr1:93912800-93915200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr1:93912800-93915200	Active TSS	Gastric	stomach
25	chr1:93912800-93915200	Active TSS	Ovary	ovary
26	chr1:93912800-93915200	Active TSS	Stomach Mucosa	stomach
27	chr1:93912800-93915200	Active TSS	A549	lung
28	chr1:93912800-93915400	Active TSS	H9 Cell Line	embryonic stem cell
29	chr1:93912800-93915400	Active TSS	Brain Anterior Caudate	brain
30	chr1:93912800-93915400	Active TSS	Duodenum Mucosa	Duodenum
31	chr1:93912800-93915400	Active TSS	Fetal Kidney	kidney
32	chr1:93912800-93915400	Active TSS	Psoas Muscle	Psoas
33	chr1:93912800-93915400	Active TSS	HSMM	muscle
34	chr1:93912800-93916000	Active TSS	iPS-18 Cell Line	embryonic stem cell
35	chr1:93913000-93914600	Active TSS	Duodenum Smooth Muscle	Duodenum
36	chr1:93913000-93914600	Active TSS	Fetal Muscle Trunk	muscle
37	chr1:93913000-93914600	Active TSS	Fetal Stomach	stomach
38	chr1:93913000-93914800	Active TSS	Muscle Satellite Cultured Cells	--
39	chr1:93913000-93914800	Active TSS	NH-A	brain
40	chr1:93913000-93914800	Active TSS	NHEK	skin
41	chr1:93913000-93915200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr1:93913000-93915200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr1:93913000-93915200	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
44	chr1:93913000-93915200	Active TSS	Fetal Intestine Small	intestine
45	chr1:93913000-93915400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr1:93913000-93915400	Active TSS	Aorta	Aorta
47	chr1:93913000-93915800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr1:93913000-93915800	Active TSS	iPS-15b Cell Line	embryonic stem cell
49	chr1:93913000-93916200	Active TSS	HUES48 Cell Line	embryonic stem cell
50	chr1:93913000-93916400	Active TSS	Breast Myoepithelial Primary Cells	Breast

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