Variant report

Variant	rs1891969
Chromosome Location	chr1:114185855-114185856
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:114185827..114187693-chr17:4268175..4270589,2	MCF-7	breast:
2	chr1:114185208..114187215-chr1:114207813..114209339,2	K562	blood:

Variant related genes	Relation type
ENSG00000132388	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs55912359	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6669008	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6704054	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012324	chr1:114135133-114206843	Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
2	nsv872161	chr1:114162194-114280135	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:114159000-114195000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr1:114159200-114194800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr1:114161800-114199800	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr1:114169200-114189400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr1:114171600-114241400	Weak transcription	Right Ventricle	heart
6	chr1:114172400-114192600	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr1:114173000-114214400	Weak transcription	Esophagus	oesophagus
8	chr1:114173000-114226800	Weak transcription	Aorta	Aorta
9	chr1:114173600-114195000	Weak transcription	HMEC	breast
10	chr1:114173600-114206000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr1:114173800-114196200	Weak transcription	Gastric	stomach
12	chr1:114173800-114199600	Weak transcription	Skeletal Muscle Male	skeletal muscle
13	chr1:114173800-114201800	Weak transcription	Colonic Mucosa	Colon
14	chr1:114173800-114201800	Weak transcription	Lung	lung
15	chr1:114173800-114214400	Weak transcription	Pancreas	Pancrea
16	chr1:114173800-114236000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr1:114179800-114239600	Weak transcription	Spleen	Spleen
18	chr1:114181200-114199400	Weak transcription	Rectal Smooth Muscle	rectum
19	chr1:114181800-114199800	Weak transcription	Fetal Brain Female	brain
20	chr1:114182000-114219600	Weak transcription	Fetal Kidney	kidney
21	chr1:114182200-114189200	Weak transcription	Placenta	Placenta
22	chr1:114182200-114197600	Weak transcription	Brain Hippocampus Middle	brain
23	chr1:114182600-114187800	Weak transcription	Fetal Stomach	stomach
24	chr1:114182600-114189400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr1:114182600-114189400	Weak transcription	Osteobl	bone
26	chr1:114182600-114194800	Weak transcription	HSMM	muscle
27	chr1:114182600-114206200	Weak transcription	Hela-S3	cervix
28	chr1:114182800-114193600	Weak transcription	Fetal Intestine Small	intestine
29	chr1:114182800-114201800	Weak transcription	Brain Germinal Matrix	brain
30	chr1:114182800-114201800	Weak transcription	Fetal Brain Male	brain
31	chr1:114182800-114217400	Weak transcription	NHDF-Ad	bronchial
32	chr1:114183000-114196200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr1:114183000-114200000	Weak transcription	HSMMtube	muscle
34	chr1:114183000-114201200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
35	chr1:114183000-114235800	Weak transcription	Dnd41	blood
36	chr1:114183200-114199600	Weak transcription	Brain Cingulate Gyrus	brain
37	chr1:114183400-114193600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr1:114183400-114195400	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chr1:114183400-114199800	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr1:114183400-114215800	Weak transcription	Fetal Lung	lung
41	chr1:114183600-114199200	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr1:114183600-114216400	Weak transcription	A549	lung
43	chr1:114183800-114186600	Strong transcription	Rectal Mucosa Donor 29	rectum
44	chr1:114184000-114189600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr1:114184000-114189600	Weak transcription	Fetal Heart	heart
46	chr1:114184400-114188600	Strong transcription	Fetal Intestine Large	intestine
47	chr1:114184400-114199600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr1:114184600-114186600	Strong transcription	Liver	Liver
49	chr1:114184600-114186600	Strong transcription	Sigmoid Colon	Sigmoid Colon
50	chr1:114184600-114186800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived

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