Variant report

Variant	rs16901975
Chromosome Location	chr5:44813013-44813014
allele	A/G
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:1)
LncRNA
region (count:1)
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	POLR2A	chr5:44808623-44815570	K562	blood:	n/a	n/a
2	MAFK	chr5:44812729-44813082	K562	blood:	n/a	n/a
3	MAFF	chr5:44812743-44813248	K562	blood:	n/a	n/a
4	MAFK	chr5:44813001-44813201	H1-hESC	embryonic stem cell:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:44812314..44814575-chr5:44831286..44832977,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-FGF10-3	chr5:44812180-44813015	l_2917_chr5:44777367-44844699_brain

No data

Variant related genes	Relation type
MRPS30	TF binding region
ENSG00000251141	TF binding region

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11950331	1.00[AMR][1000 genomes]
rs16901960	1.00[AMR][1000 genomes]
rs16901971	1.00[AMR][1000 genomes]
rs17342584	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs956404	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830279	chr5:44688175-44860815	Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	nsv1027897	chr5:44695278-45061623	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
3	nsv880712	chr5:44777878-44842260	Strong transcription Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
4	nsv881564	chr5:44783255-44914579	Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
5	nsv881629	chr5:44796042-44836788	Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
6	nsv881184	chr5:44796042-44842260	Enhancers Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
7	nsv881280	chr5:44800665-44821736	Strong transcription Transcr. at gene 5' and 3' Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	n/a
8	nsv880618	chr5:44800665-44836788	Strong transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
9	nsv881418	chr5:44800665-44869100	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
10	nsv880397	chr5:44800665-44939293	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
11	nsv462127	chr5:44803749-44834233	Active TSS Weak transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
12	nsv597934	chr5:44803749-44834233	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
13	nsv880838	chr5:44805926-44836788	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
14	nsv881498	chr5:44805926-44842260	Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:44810000-44815600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr5:44810000-44817400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr5:44810000-44828000	Weak transcription	Gastric	stomach
4	chr5:44810000-44839000	Weak transcription	Pancreas	Pancrea
5	chr5:44810200-44813600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr5:44810200-44815000	Weak transcription	Lung	lung
7	chr5:44810200-44837600	Weak transcription	Esophagus	oesophagus
8	chr5:44810400-44813200	Weak transcription	Fetal Muscle Trunk	muscle
9	chr5:44810400-44822400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:44810800-44813200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr5:44810800-44813200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr5:44810800-44813200	Weak transcription	Stomach Smooth Muscle	stomach
13	chr5:44810800-44813400	Weak transcription	Rectal Smooth Muscle	rectum
14	chr5:44810800-44813800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr5:44810800-44813800	Weak transcription	Left Ventricle	heart
16	chr5:44810800-44815000	Weak transcription	Ovary	ovary
17	chr5:44810800-44815400	Strong transcription	HSMM	muscle
18	chr5:44810800-44815600	Weak transcription	Fetal Stomach	stomach
19	chr5:44810800-44817600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr5:44810800-44820200	Weak transcription	HSMMtube	muscle
21	chr5:44810800-44821600	Weak transcription	Colonic Mucosa	Colon
22	chr5:44810800-44822400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr5:44810800-44822800	Weak transcription	Thymus	Thymus
24	chr5:44810800-44828000	Weak transcription	Right Ventricle	heart
25	chr5:44810800-44829400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr5:44810800-44832200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr5:44810800-44833000	Weak transcription	Psoas Muscle	Psoas
28	chr5:44810800-44835800	Weak transcription	Aorta	Aorta
29	chr5:44811000-44813200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr5:44811000-44813200	Weak transcription	Osteobl	bone
31	chr5:44811000-44813400	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
32	chr5:44811000-44814000	Weak transcription	Brain Substantia Nigra	brain
33	chr5:44811000-44823000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr5:44811000-44829400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr5:44811200-44813200	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr5:44811200-44814400	Weak transcription	NHLF	lung
37	chr5:44811200-44816800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr5:44811200-44817000	Strong transcription	Primary hematopoietic stem cells	blood
39	chr5:44811200-44820800	Strong transcription	Primary monocytes fromperipheralblood	blood
40	chr5:44811200-44821400	Strong transcription	Fetal Intestine Large	intestine
41	chr5:44811200-44823000	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr5:44811200-44835400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr5:44811400-44813200	Weak transcription	Fetal Lung	lung
44	chr5:44811400-44813600	Weak transcription	Colon Smooth Muscle	Colon
45	chr5:44811400-44813800	Weak transcription	Brain Germinal Matrix	brain
46	chr5:44811400-44813800	Weak transcription	Brain Hippocampus Middle	brain
47	chr5:44811400-44813800	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr5:44811400-44814800	Weak transcription	Primary T cells from cord blood	blood
49	chr5:44811400-44815600	Weak transcription	Fetal Intestine Small	intestine
50	chr5:44811400-44815600	Strong transcription	NH-A	brain

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