Variant report

Variant	rs56181361
Chromosome Location	chr2:55344470-55344471
allele	A/C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr2:55344418-55344587	Hela-S3	cervix:	n/a	n/a
2	MAZ	chr2:55344430-55344545	Hela-S3	cervix:	n/a	n/a
3	RCOR1	chr2:55344403-55344714	K562	blood:	n/a	n/a
4	MAX	chr2:55344439-55344512	Hela-S3	cervix:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:55273237..55280299-chr2:55335301..55344768,18	K562	blood:
2	chr2:55343511..55346556-chr2:55364762..55366710,3	K562	blood:
3	chr2:55344367..55347078-chr2:55367240..55368928,2	K562	blood:
4	chr2:55338720..55340502-chr2:55344452..55346435,2	K562	blood:
5	chr2:55278333..55279964-chr2:55343174..55345064,2	MCF-7	breast:
6	chr2:55251702..55254676-chr2:55343936..55346646,2	K562	blood:
7	chr2:55344212..55347124-chr2:55355193..55359491,3	K562	blood:
8	chr2:55341952..55344762-chr2:55357897..55359885,2	K562	blood:

No data

Variant related genes	Relation type
RTN4	TF binding region
ENSG00000115310	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs55664473	1.00[AMR][1000 genomes]
rs55700934	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55911307	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56039015	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56760831	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57385616	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59078210	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59657596	0.93[AFR][1000 genomes]
rs60068576	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72914557	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73936839	1.00[AFR][1000 genomes];1.00[AMR][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	nsv1013316	chr2:55324276-55345262	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 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	chr2:55337200-55351000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:55339400-55351000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr2:55339600-55345800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr2:55339600-55345800	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr2:55339600-55345800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr2:55339600-55346800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr2:55339600-55347000	Weak transcription	Left Ventricle	heart
8	chr2:55339800-55345600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr2:55339800-55345800	Weak transcription	HUES6 Cell Line	embryonic stem cell
10	chr2:55339800-55347000	Weak transcription	Lung	lung
11	chr2:55340000-55345600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr2:55340200-55346200	Weak transcription	Fetal Brain Female	brain
13	chr2:55340400-55345800	Enhancers	K562	blood
14	chr2:55340600-55345200	Weak transcription	Fetal Brain Male	brain
15	chr2:55340600-55347000	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr2:55340800-55344600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr2:55340800-55345600	Weak transcription	Primary B cells from peripheral blood	blood
18	chr2:55340800-55346000	Weak transcription	Spleen	Spleen
19	chr2:55340800-55347200	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr2:55340800-55348000	Enhancers	Brain Hippocampus Middle	brain
21	chr2:55340800-55348000	Enhancers	Brain Substantia Nigra	brain
22	chr2:55341000-55345800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr2:55341000-55346000	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr2:55341000-55346800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr2:55341000-55346800	Weak transcription	Placenta	Placenta
26	chr2:55341200-55345600	Weak transcription	Primary B cells from cord blood	blood
27	chr2:55341200-55345800	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr2:55341200-55346200	Weak transcription	Stomach Smooth Muscle	stomach
29	chr2:55341200-55346800	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr2:55341200-55347000	Weak transcription	Stomach Mucosa	stomach
31	chr2:55341400-55345800	Weak transcription	Adipose Nuclei	Adipose
32	chr2:55341600-55345800	Weak transcription	Fetal Thymus	thymus
33	chr2:55341800-55344600	Enhancers	NHDF-Ad	bronchial
34	chr2:55342200-55346200	Enhancers	Hela-S3	cervix
35	chr2:55342200-55347000	Enhancers	HSMMtube	muscle
36	chr2:55342400-55350200	Enhancers	Fetal Heart	heart
37	chr2:55342600-55344600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr2:55342600-55344600	Enhancers	NHEK	skin
39	chr2:55343000-55344600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr2:55343000-55345400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr2:55343000-55346000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr2:55343200-55344800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr2:55343200-55345000	Enhancers	A549	lung
44	chr2:55343200-55345600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr2:55343200-55345600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr2:55343200-55345600	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr2:55343200-55345800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr2:55343200-55345800	Weak transcription	Brain Anterior Caudate	brain
49	chr2:55343200-55346800	Weak transcription	Right Atrium	heart
50	chr2:55343200-55347200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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