Variant report

Variant	rs55700934
Chromosome Location	chr2:55343226-55343227
allele	A/C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TAL1	chr2:55343223-55343639	K562	blood:	n/a	n/a
2	FOSL1	chr2:55342857-55343573	K562	blood:	n/a	chr2:55343035-55343045 chr2:55343036-55343043 chr2:55343035-55343045 chr2:55343036-55343044 chr2:55343342-55343353 chr2:55343035-55343045 chr2:55343036-55343044 chr2:55343035-55343045
3	GTF3C2	chr2:55343037-55343397	Hela-S3	cervix:	n/a	n/a
4	JUN	chr2:55342894-55343863	K562	blood:	n/a	chr2:55343035-55343045 chr2:55343036-55343043 chr2:55343035-55343045 chr2:55343036-55343044 chr2:55343035-55343045 chr2:55343036-55343044 chr2:55343035-55343045
5	CEBPD	chr2:55343111-55343727	K562	blood:	n/a	n/a
6	SP1	chr2:55342679-55343706	HCT-116	colon:	n/a	chr2:55342792-55342805
7	JUN	chr2:55342948-55343566	K562	blood:	n/a	chr2:55343035-55343045 chr2:55343036-55343043 chr2:55343035-55343045 chr2:55343036-55343044 chr2:55343035-55343045 chr2:55343036-55343044 chr2:55343035-55343045
8	CEBPB	chr2:55343117-55343651	K562	blood:	n/a	n/a
9	MAX	chr2:55343200-55343533	K562	blood:	n/a	n/a
10	JUN	chr2:55342362-55344019	K562	blood:	n/a	chr2:55343035-55343045 chr2:55343036-55343043 chr2:55343035-55343045 chr2:55343036-55343044 chr2:55343035-55343045 chr2:55343036-55343044 chr2:55343035-55343045
11	TCF12	chr2:55342683-55343679	SK-N-SH	brain:	n/a	n/a
12	FOSL2	chr2:55342716-55343653	SK-N-SH	brain:	n/a	chr2:55343035-55343045 chr2:55343036-55343043 chr2:55343035-55343045 chr2:55343036-55343044 chr2:55343035-55343045 chr2:55343036-55343044 chr2:55343035-55343045
13	JUND	chr2:55342698-55343713	HCT-116	colon:	n/a	chr2:55343035-55343045 chr2:55343036-55343043 chr2:55343035-55343045 chr2:55343036-55343044 chr2:55343035-55343045 chr2:55343036-55343044 chr2:55343035-55343045
14	JUND	chr2:55342457-55343976	K562	blood:	n/a	chr2:55343035-55343045 chr2:55343036-55343043 chr2:55343035-55343045 chr2:55343036-55343044 chr2:55343035-55343045 chr2:55343036-55343044 chr2:55343035-55343045
15	YY1	chr2:55342838-55343521	SK-N-SH	brain:	n/a	chr2:55343130-55343152 chr2:55343004-55343020 chr2:55343141-55343149
16	ATF1	chr2:55342889-55343581	K562	blood:	n/a	n/a
17	GTF2F1	chr2:55342871-55343548	Hela-S3	cervix:	n/a	n/a
18	CEBPB	chr2:55342698-55343784	HCT-116	colon:	n/a	n/a
19	FOS	chr2:55342821-55343489	HUVEC	blood vessel:	n/a	chr2:55343035-55343045 chr2:55343036-55343043 chr2:55343035-55343045 chr2:55343036-55343044 chr2:55343035-55343045 chr2:55343034-55343045 chr2:55343036-55343044 chr2:55343035-55343045
20	TBL1XR1	chr2:55342886-55343870	K562	blood:	n/a	n/a
21	GATA3	chr2:55342523-55343757	SK-N-SH	brain:	n/a	chr2:55343402-55343414 chr2:55343403-55343412 chr2:55342694-55342710
22	JUN	chr2:55342732-55343567	Hela-S3	cervix:	n/a	chr2:55343035-55343045 chr2:55343036-55343043 chr2:55343035-55343045 chr2:55343036-55343044 chr2:55343035-55343045 chr2:55343036-55343044 chr2:55343035-55343045
23	GATA2	chr2:55343197-55343632	K562	blood:	n/a	chr2:55343402-55343414 chr2:55343403-55343412
24	FOSL1	chr2:55342623-55343669	HCT-116	colon:	n/a	chr2:55343035-55343045 chr2:55343036-55343043 chr2:55343035-55343045 chr2:55343036-55343044 chr2:55343342-55343353 chr2:55343035-55343045 chr2:55343036-55343044 chr2:55343035-55343045
25	TEAD4	chr2:55342694-55343719	K562	blood:	n/a	n/a
26	CCNT2	chr2:55343202-55343687	K562	blood:	n/a	n/a
27	MYC	chr2:55343129-55343586	K562	blood:	n/a	n/a
28	STAT3	chr2:55342942-55343515	Hela-S3	cervix:	n/a	n/a
29	TCF7L2	chr2:55342861-55343581	HCT-116	colon:	n/a	chr2:55343035-55343044
30	CEBPB	chr2:55343161-55343580	K562	blood:	n/a	n/a
31	JUND	chr2:55342851-55343568	Hela-S3	cervix:	n/a	chr2:55343035-55343045 chr2:55343036-55343043 chr2:55343035-55343045 chr2:55343036-55343044 chr2:55343035-55343045 chr2:55343036-55343044 chr2:55343035-55343045
32	JUND	chr2:55342758-55343386	SK-N-SH	brain:	n/a	chr2:55343035-55343045 chr2:55343036-55343043 chr2:55343035-55343045 chr2:55343036-55343044 chr2:55343035-55343045 chr2:55343036-55343044 chr2:55343035-55343045
33	FOSL1	chr2:55342721-55343688	HCT-116	colon:	n/a	chr2:55343035-55343045 chr2:55343036-55343043 chr2:55343035-55343045 chr2:55343036-55343044 chr2:55343342-55343353 chr2:55343035-55343045 chr2:55343036-55343044 chr2:55343035-55343045
34	FOS	chr2:55342882-55343264	MCF10A-Er-Src	breast:	n/a	chr2:55343035-55343045 chr2:55343036-55343043 chr2:55343035-55343045 chr2:55343036-55343044 chr2:55343035-55343045 chr2:55343034-55343045 chr2:55343036-55343044 chr2:55343035-55343045
35	ATF3	chr2:55342809-55343566	K562	blood:	n/a	n/a
36	TBP	chr2:55343202-55343534	Hela-S3	cervix:	n/a	n/a
37	MYC	chr2:55343189-55343574	K562	blood:	n/a	n/a
38	JUND	chr2:55342694-55343342	SK-N-SH	brain:	n/a	chr2:55343035-55343045 chr2:55343036-55343043 chr2:55343035-55343045 chr2:55343036-55343044 chr2:55343035-55343045 chr2:55343036-55343044 chr2:55343035-55343045
39	HMGN3	chr2:55343193-55343671	K562	blood:	n/a	n/a
40	KAP1	chr2:55342815-55343609	U2OS	brain:	n/a	chr2:55343034-55343043
41	ARID3A	chr2:55343213-55343825	K562	blood:	n/a	n/a
42	CEBPB	chr2:55342734-55343724	HCT-116	colon:	n/a	n/a
43	GTF3C2	chr2:55342913-55343576	K562	blood:	n/a	n/a
44	GATA1	chr2:55343052-55343860	PBDE	blood:	n/a	chr2:55343402-55343414 chr2:55343403-55343412
45	RCOR1	chr2:55343050-55343445	K562	blood:	n/a	n/a
46	CTCF	chr2:55343170-55343582	K562	blood:	n/a	n/a
47	MAX	chr2:55343203-55343521	Hela-S3	cervix:	n/a	n/a
48	EP300	chr2:55342333-55343813	K562	blood:	n/a	chr2:55343036-55343045
49	ZMIZ1	chr2:55342999-55343849	K562	blood:	n/a	n/a
50	ZNF384	chr2:55343006-55343575	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:55273237..55280299-chr2:55335301..55344768,18	K562	blood:
2	chr2:55278333..55279964-chr2:55343174..55345064,2	MCF-7	breast:
3	chr2:55273237..55279836-chr2:55336432..55344363,17	K562	blood:
4	chr2:55341952..55344762-chr2:55357897..55359885,2	K562	blood:

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

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs55664473	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]
rs56181361	1.00[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:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004503	chr2:55324276-55343705	Enhancers Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv997458	chr2:55324276-55344326	Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	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:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55332000-55343400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr2:55337200-55351000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr2:55338400-55343400	Enhancers	Primary monocytes fromperipheralblood	blood
4	chr2:55338400-55343400	Enhancers	Primary hematopoietic stem cells	blood
5	chr2:55338600-55343800	Enhancers	Fetal Muscle Leg	muscle
6	chr2:55339400-55351000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr2:55339600-55345800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr2:55339600-55345800	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr2:55339600-55345800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr2:55339600-55346800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:55339600-55347000	Weak transcription	Left Ventricle	heart
12	chr2:55339800-55344400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
13	chr2:55339800-55345600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr2:55339800-55345800	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr2:55339800-55347000	Weak transcription	Lung	lung
16	chr2:55340000-55343600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr2:55340000-55343600	Enhancers	NHLF	lung
18	chr2:55340000-55345600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr2:55340200-55346200	Weak transcription	Fetal Brain Female	brain
20	chr2:55340400-55344200	Weak transcription	Fetal Muscle Trunk	muscle
21	chr2:55340400-55345800	Enhancers	K562	blood
22	chr2:55340600-55344400	Weak transcription	Brain Germinal Matrix	brain
23	chr2:55340600-55345200	Weak transcription	Fetal Brain Male	brain
24	chr2:55340600-55347000	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr2:55340800-55343800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr2:55340800-55344600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr2:55340800-55345600	Weak transcription	Primary B cells from peripheral blood	blood
28	chr2:55340800-55346000	Weak transcription	Spleen	Spleen
29	chr2:55340800-55347200	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr2:55340800-55348000	Enhancers	Brain Hippocampus Middle	brain
31	chr2:55340800-55348000	Enhancers	Brain Substantia Nigra	brain
32	chr2:55341000-55343400	Weak transcription	Right Ventricle	heart
33	chr2:55341000-55345800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr2:55341000-55346000	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr2:55341000-55346800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr2:55341000-55346800	Weak transcription	Placenta	Placenta
37	chr2:55341200-55343600	Enhancers	HSMM	muscle
38	chr2:55341200-55344400	Weak transcription	Brain Angular Gyrus	brain
39	chr2:55341200-55345600	Weak transcription	Primary B cells from cord blood	blood
40	chr2:55341200-55345800	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr2:55341200-55346200	Weak transcription	Stomach Smooth Muscle	stomach
42	chr2:55341200-55346800	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr2:55341200-55347000	Weak transcription	Stomach Mucosa	stomach
44	chr2:55341400-55343400	Enhancers	Monocytes-CD14+_RO01746	blood
45	chr2:55341400-55345800	Weak transcription	Adipose Nuclei	Adipose
46	chr2:55341600-55345800	Weak transcription	Fetal Thymus	thymus
47	chr2:55341800-55344400	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr2:55341800-55344600	Enhancers	NHDF-Ad	bronchial
49	chr2:55342000-55343600	Enhancers	Osteobl	bone
50	chr2:55342000-55343800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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