Variant report

Variant	rs55941676
Chromosome Location	chr5:74071895-74071896
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr5:74071555-74071939	HepG2	liver:	n/a	n/a
2	POLR2A	chr5:74071563-74072362	HepG2	liver:	n/a	n/a
3	POLR2A	chr5:74071473-74072369	HepG2	liver:	n/a	n/a
4	JUN	chr5:74071775-74071909	H1-hESC	embryonic stem cell:	n/a	n/a
5	USF1	chr5:74071510-74071943	ECC-1	luminal epithelium:	n/a	n/a
6	POLR2A	chr5:74071502-74072210	H1-hESC	embryonic stem cell:	n/a	n/a
7	POLR2A	chr5:74071582-74071922	HepG2	liver:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr5:74070106..74071963-chr5:74087987..74090742,2	K562	blood:
2	chr5:74070152..74072138-chr5:74074887..74076433,2	K562	blood:
3	chr5:74054567..74056927-chr5:74071615..74073229,2	MCF-7	breast:
4	chr5:74068761..74070273-chr5:74071485..74073703,2	K562	blood:

No data

Variant related genes	Relation type
RNU6-1330P	TF binding region
ENSG00000199645	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs11950373	1.00[AMR][1000 genomes]
rs11950502	1.00[AMR][1000 genomes]
rs11951326	1.00[AMR][1000 genomes]
rs11952038	1.00[AMR][1000 genomes]
rs11952887	1.00[AMR][1000 genomes]
rs11954065	1.00[AMR][1000 genomes]
rs11955669	1.00[AMR][1000 genomes]
rs11956317	1.00[AMR][1000 genomes]
rs11957259	1.00[AMR][1000 genomes]
rs11960152	1.00[AMR][1000 genomes]
rs11960413	1.00[AMR][1000 genomes]
rs1447452	1.00[AMR][1000 genomes]
rs16872289	1.00[AMR][1000 genomes]
rs16872292	1.00[AMR][1000 genomes]
rs16872305	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16872321	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1813646	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35565659	1.00[AMR][1000 genomes]
rs4383717	1.00[AFR][1000 genomes]
rs55828592	1.00[AMR][1000 genomes]
rs57371810	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60089359	1.00[AMR][1000 genomes]
rs60746244	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61373898	1.00[AMR][1000 genomes]
rs61589039	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6870452	1.00[AMR][1000 genomes]
rs6870609	1.00[AMR][1000 genomes]
rs6871873	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6885078	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73762944	1.00[AMR][1000 genomes]
rs73762946	1.00[AMR][1000 genomes]
rs73762947	1.00[AMR][1000 genomes]
rs73762955	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73762957	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73762958	0.93[AFR][1000 genomes];1.00[AMR][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	nsv598653	chr5:73992881-74095542	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv968948	chr5:74069688-74072622	Strong transcription Weak transcription Genic enhancers	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:74064000-74076000	Weak transcription	Esophagus	oesophagus
2	chr5:74064000-74077200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr5:74064000-74112400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr5:74064200-74073000	Weak transcription	Gastric	stomach
5	chr5:74064200-74073800	Weak transcription	Small Intestine	intestine
6	chr5:74064200-74076000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr5:74064200-74086000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr5:74064200-74102000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr5:74064400-74073800	Weak transcription	Stomach Mucosa	stomach
10	chr5:74064400-74076600	Weak transcription	Rectal Smooth Muscle	rectum
11	chr5:74064400-74079600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr5:74064400-74086600	Weak transcription	Fetal Heart	heart
13	chr5:74064400-74134600	Weak transcription	Fetal Brain Male	brain
14	chr5:74064600-74074400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
15	chr5:74064600-74079400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr5:74064600-74079600	Strong transcription	HUES64 Cell Line	embryonic stem cell
17	chr5:74064800-74072400	Strong transcription	Cortex derived primary cultured neurospheres	brain
18	chr5:74064800-74074000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
19	chr5:74064800-74074400	Strong transcription	Osteobl	bone
20	chr5:74064800-74074600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr5:74064800-74074600	Strong transcription	Primary T helper cells PMA-I stimulated	--
22	chr5:74064800-74074600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr5:74064800-74074800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr5:74064800-74074800	Strong transcription	Primary monocytes fromperipheralblood	blood
25	chr5:74064800-74075000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr5:74064800-74075000	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr5:74064800-74075000	Strong transcription	NH-A	brain
28	chr5:74064800-74079400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr5:74064800-74079600	Strong transcription	HUES48 Cell Line	embryonic stem cell
30	chr5:74064800-74080000	Strong transcription	H1 Cell Line	embryonic stem cell
31	chr5:74064800-74080400	Strong transcription	HUES6 Cell Line	embryonic stem cell
32	chr5:74064800-74101200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
33	chr5:74065000-74072000	Strong transcription	Muscle Satellite Cultured Cells	--
34	chr5:74065000-74072000	Strong transcription	Brain Germinal Matrix	brain
35	chr5:74065000-74072000	Strong transcription	Fetal Muscle Leg	muscle
36	chr5:74065000-74072400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr5:74065000-74072400	Strong transcription	Primary T cells from cord blood	blood
38	chr5:74065000-74072400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr5:74065000-74072600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr5:74065000-74072600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr5:74065000-74073000	Strong transcription	Fetal Lung	lung
42	chr5:74065000-74074000	Strong transcription	Fetal Intestine Large	intestine
43	chr5:74065000-74074200	Strong transcription	Placenta	Placenta
44	chr5:74065000-74074400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr5:74065000-74074800	Strong transcription	Fetal Thymus	thymus
46	chr5:74065000-74074800	Strong transcription	Rectal Mucosa Donor 29	rectum
47	chr5:74065000-74077800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr5:74065000-74079600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
49	chr5:74065000-74081800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr5:74065200-74073800	Strong transcription	Primary T cells fromperipheralblood	blood

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