Variant report

Variant	rs55831209
Chromosome Location	chr1:112941966-112941967
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:112940490..112942523-chr1:113247198..113249596,2	MCF-7	breast:
2	chr1:112940392..112943025-chr1:112944284..112946532,3	K562	blood:
3	chr1:112935548..112944315-chr1:113002393..113010397,28	MCF-7	breast:
4	chr1:112940500..112942998-chr1:113216461..113219079,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000155363	Chromatin interaction
ENSG00000155366	Chromatin interaction
ENSG00000134245	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs55850255	0.89[AFR][1000 genomes]
rs58190287	0.89[AFR][1000 genomes]
rs58274262	0.89[AFR][1000 genomes]
rs59562601	0.89[AFR][1000 genomes]
rs74110073	0.89[AFR][1000 genomes]
rs74110083	0.89[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv13370	chr1:112693290-113246263	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
2	nsv1002971	chr1:112924725-113740584	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
3	nsv535059	chr1:112924725-113740584	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
4	nsv831081	chr1:112934920-113122640	Weak transcription Flanking Active TSS Active TSS Strong transcription Genic enhancers Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:112939800-112942200	Weak transcription	Spleen	Spleen
2	chr1:112939800-112942400	Flanking Active TSS	HUVEC	blood vessel
3	chr1:112939800-112944200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr1:112939800-112944600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr1:112940000-112942000	Weak transcription	Primary B cells from peripheral blood	blood
6	chr1:112940000-112942000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr1:112940000-112943800	Weak transcription	Brain Substantia Nigra	brain
8	chr1:112940000-112944000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr1:112940000-112944200	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr1:112940000-112944600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr1:112940000-112945800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr1:112940000-112950600	Weak transcription	Lung	lung
13	chr1:112940000-112952200	Weak transcription	Esophagus	oesophagus
14	chr1:112940000-112954400	Weak transcription	Fetal Muscle Leg	muscle
15	chr1:112940000-112956400	Weak transcription	Left Ventricle	heart
16	chr1:112940000-112961400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr1:112940200-112943600	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr1:112940200-112958400	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr1:112940400-112942000	Weak transcription	Small Intestine	intestine
20	chr1:112940400-112944200	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr1:112940400-112944200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr1:112940600-112942000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr1:112940600-112942200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
24	chr1:112940600-112942800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr1:112940600-112943800	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr1:112940600-112943800	Weak transcription	HUES64 Cell Line	embryonic stem cell
27	chr1:112940600-112945200	Weak transcription	Colon Smooth Muscle	Colon
28	chr1:112940600-112945400	Weak transcription	Fetal Heart	heart
29	chr1:112940600-112945800	Weak transcription	Ovary	ovary
30	chr1:112940600-112958800	Weak transcription	Colonic Mucosa	Colon
31	chr1:112940600-112962000	Weak transcription	Psoas Muscle	Psoas
32	chr1:112940800-112942800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr1:112940800-112943800	Weak transcription	Brain Angular Gyrus	brain
34	chr1:112940800-112943800	Weak transcription	Brain Cingulate Gyrus	brain
35	chr1:112940800-112944200	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr1:112940800-112946000	Weak transcription	HepG2	liver
37	chr1:112940800-112946800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr1:112940800-112955000	Weak transcription	Adipose Nuclei	Adipose
39	chr1:112941000-112942000	Weak transcription	Brain Anterior Caudate	brain
40	chr1:112941000-112942200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr1:112941000-112942800	Weak transcription	NHDF-Ad	bronchial
42	chr1:112941000-112943000	Enhancers	Fetal Brain Male	brain
43	chr1:112941000-112943800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr1:112941000-112943800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr1:112941000-112943800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr1:112941000-112943800	Weak transcription	A549	lung
47	chr1:112941000-112944600	Weak transcription	HMEC	breast
48	chr1:112941000-112946400	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr1:112941000-112946400	Weak transcription	Aorta	Aorta
50	chr1:112941000-112949000	Weak transcription	Fetal Lung	lung

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