Variant report

Variant	rs59657596
Chromosome Location	chr2:55342510-55342511
allele	A/C/G
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	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
2	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
3	EP300	chr2:55342333-55343813	K562	blood:	n/a	chr2:55343036-55343045
4	RCOR1	chr2:55342434-55344020	K562	blood:	n/a	n/a
5	JUND	chr2:55342314-55344001	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
6	RAD21	chr2:55342317-55342517	Hela-S3	cervix:	n/a	n/a
7	GATA1	chr2:55341662-55344054	K562	blood:	n/a	chr2:55343402-55343414 chr2:55343403-55343412 chr2:55342694-55342710
8	CTCF	chr2:55342360-55342510	AG09309	skin:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:55273237..55280299-chr2:55335301..55344768,18	K562	blood:
2	chr2:55273237..55279836-chr2:55336432..55344363,17	K562	blood:
3	chr2:55339781..55342552-chr2:55346442..55349594,4	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: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs55700934	0.93[AFR][1000 genomes]
rs55911307	0.93[AFR][1000 genomes]
rs56181361	0.93[AFR][1000 genomes]
rs56760831	0.93[AFR][1000 genomes]
rs59078210	0.93[AFR][1000 genomes]
rs60068576	0.85[AFR][1000 genomes]
rs72914557	0.85[AFR][1000 genomes]
rs73936839	0.93[AFR][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	chr2:55329600-55342600	Weak transcription	NHEK	skin
2	chr2:55332000-55343400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr2:55337200-55351000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr2:55337400-55342800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr2:55337400-55342800	Weak transcription	HMEC	breast
6	chr2:55338400-55343400	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr2:55338400-55343400	Enhancers	Primary hematopoietic stem cells	blood
8	chr2:55338600-55343800	Enhancers	Fetal Muscle Leg	muscle
9	chr2:55339200-55343000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr2:55339400-55351000	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr2:55339600-55342600	Enhancers	A549	lung
12	chr2:55339600-55345800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr2:55339600-55345800	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr2:55339600-55345800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr2:55339600-55346800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr2:55339600-55347000	Weak transcription	Left Ventricle	heart
17	chr2:55339800-55342600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr2:55339800-55343000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
19	chr2:55339800-55343000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr2:55339800-55344400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr2:55339800-55345600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr2:55339800-55345800	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr2:55339800-55347000	Weak transcription	Lung	lung
24	chr2:55340000-55343600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr2:55340000-55343600	Enhancers	NHLF	lung
26	chr2:55340000-55345600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr2:55340200-55342600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr2:55340200-55343200	Enhancers	Primary neutrophils fromperipheralblood	blood
29	chr2:55340200-55346200	Weak transcription	Fetal Brain Female	brain
30	chr2:55340400-55342600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr2:55340400-55343000	Weak transcription	Small Intestine	intestine
32	chr2:55340400-55344200	Weak transcription	Fetal Muscle Trunk	muscle
33	chr2:55340400-55345800	Enhancers	K562	blood
34	chr2:55340600-55342600	Weak transcription	HUVEC	blood vessel
35	chr2:55340600-55344400	Weak transcription	Brain Germinal Matrix	brain
36	chr2:55340600-55345200	Weak transcription	Fetal Brain Male	brain
37	chr2:55340600-55347000	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr2:55340800-55342800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr2:55340800-55342800	Weak transcription	Right Atrium	heart
40	chr2:55340800-55343200	Enhancers	Brain Cingulate Gyrus	brain
41	chr2:55340800-55343800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr2:55340800-55344600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr2:55340800-55345600	Weak transcription	Primary B cells from peripheral blood	blood
44	chr2:55340800-55346000	Weak transcription	Spleen	Spleen
45	chr2:55340800-55347200	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr2:55340800-55348000	Enhancers	Brain Hippocampus Middle	brain
47	chr2:55340800-55348000	Enhancers	Brain Substantia Nigra	brain
48	chr2:55341000-55342600	Enhancers	Brain Anterior Caudate	brain
49	chr2:55341000-55342600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr2:55341000-55343400	Weak transcription	Right Ventricle	heart

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