Variant report

Variant	rs11549248
Chromosome Location	chr1:151511108-151511109
allele	A/G
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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:151481429..151491154-chr1:151502501..151517487,49	MCF-7	breast:
2	chr1:151421812..151434588-chr1:151506621..151515599,30	MCF-7	breast:
3	chr1:151494437..151499363-chr1:151510633..151514422,7	MCF-7	breast:
4	chr1:151510867..151515069-chr1:151533037..151539348,7	MCF-7	breast:
5	chr1:151510723..151515515-chr1:151802413..151805096,5	MCF-7	breast:
6	chr1:151510621..151512625-chr1:151802601..151805059,2	MCF-7	breast:
7	chr1:151510726..151515686-chr1:151583230..151586215,6	MCF-7	breast:
8	chr1:151437130..151438728-chr1:151510858..151512482,2	MCF-7	breast:
9	chr1:151508834..151511282-chr1:151850913..151852917,2	MCF-7	breast:
10	chr1:151477348..151494376-chr1:151504804..151515249,50	MCF-7	breast:
11	chr1:151510509..151513919-chr1:151688057..151691918,3	MCF-7	breast:
12	chr1:151510534..151515854-chr1:151533093..151539013,11	MCF-7	breast:
13	chr1:151509848..151514263-chr1:151581077..151585541,5	MCF-7	breast:
14	chr1:151429106..151432636-chr1:151510898..151514410,7	MCF-7	breast:
15	chr1:151508927..151511307-chr13:49548992..49551454,2	MCF-7	breast:
16	chr1:151511022..151513078-chr1:151762186..151764520,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000143442	Chromatin interaction
ENSG00000143367	Chromatin interaction
ENSG00000143365	Chromatin interaction
ENSG00000182134	Chromatin interaction
ENSG00000143376	Chromatin interaction
ENSG00000102531	Chromatin interaction
ENSG00000143375	Chromatin interaction
ENSG00000203288	Chromatin interaction
ENSG00000159409	Chromatin interaction
ENSG00000250734	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12029082	0.85[EUR][1000 genomes]
rs12037928	1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs12044926	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1418823	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs60322305	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6694047	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv916272	chr1:150961809-151557253	Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	219 gene(s)	inside rSNPs	diseases
2	nsv997511	chr1:151491765-151595902	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151484600-151512000	Weak transcription	Right Atrium	heart
2	chr1:151485200-151511800	Weak transcription	Fetal Brain Female	brain
3	chr1:151485800-151511800	Weak transcription	Brain Germinal Matrix	brain
4	chr1:151485800-151512200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:151486600-151511800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr1:151486800-151512200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr1:151487000-151511800	Weak transcription	Small Intestine	intestine
8	chr1:151493400-151511800	Weak transcription	Brain Anterior Caudate	brain
9	chr1:151493400-151511800	Weak transcription	Ovary	ovary
10	chr1:151493400-151512200	Weak transcription	Fetal Kidney	kidney
11	chr1:151493600-151511200	Strong transcription	Fetal Intestine Large	intestine
12	chr1:151494400-151511800	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr1:151495400-151511200	Strong transcription	HUES64 Cell Line	embryonic stem cell
14	chr1:151495400-151511400	Strong transcription	Liver	Liver
15	chr1:151498000-151511800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr1:151502600-151511800	Weak transcription	Rectal Smooth Muscle	rectum
17	chr1:151503400-151511800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr1:151503400-151512400	Weak transcription	Esophagus	oesophagus
19	chr1:151503400-151512800	Weak transcription	Aorta	Aorta
20	chr1:151504200-151511800	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr1:151507600-151511800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr1:151507600-151512000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr1:151507800-151512200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr1:151508000-151511800	Weak transcription	HepG2	liver
25	chr1:151508400-151511200	Weak transcription	Stomach Mucosa	stomach
26	chr1:151508400-151511800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr1:151509400-151511800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr1:151509400-151511800	Weak transcription	Brain Hippocampus Middle	brain
29	chr1:151510000-151511600	Weak transcription	Placenta	Placenta
30	chr1:151510000-151511800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr1:151510000-151511800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr1:151510000-151511800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr1:151510000-151511800	Enhancers	NHEK	skin
34	chr1:151510000-151512000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr1:151510000-151512000	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr1:151510200-151511600	Weak transcription	Duodenum Mucosa	Duodenum
37	chr1:151510200-151511600	Enhancers	Hela-S3	cervix
38	chr1:151510200-151511600	Weak transcription	K562	blood
39	chr1:151510200-151511800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr1:151510200-151511800	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr1:151510200-151511800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr1:151510200-151511800	Weak transcription	Brain Cingulate Gyrus	brain
43	chr1:151510200-151511800	Weak transcription	Brain Substantia Nigra	brain
44	chr1:151510200-151511800	Weak transcription	NHDF-Ad	bronchial
45	chr1:151510200-151512000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr1:151510200-151512200	Genic enhancers	Fetal Intestine Small	intestine
47	chr1:151510400-151511800	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr1:151510400-151511800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr1:151510400-151511800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
50	chr1:151510400-151511800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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