Variant report

Variant	rs61401578
Chromosome Location	chr4:57839996-57839997
allele	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	SPI1	chr4:57839541-57839997	HL-60	blood:	n/a	chr4:57839624-57839633
2	POLR2A	chr4:57839852-57840026	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:57822641..57828782-chr4:57838494..57846737,10	K562	blood:

Variant related genes	Relation type
POLR2B	TF binding region
ENSG00000269949	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs11553075	0.97[AFR][1000 genomes]
rs11553076	0.97[AFR][1000 genomes]
rs17087212	1.00[AMR][1000 genomes]
rs2137767	1.00[AMR][1000 genomes]
rs2137768	1.00[AMR][1000 genomes]
rs2137769	1.00[AMR][1000 genomes]
rs57687520	1.00[AMR][1000 genomes]
rs57795248	1.00[AMR][1000 genomes]
rs58233353	1.00[AMR][1000 genomes]
rs58580770	0.94[AFR][1000 genomes]
rs58850828	0.94[AFR][1000 genomes]
rs60003185	1.00[AMR][1000 genomes]
rs60235867	0.94[AFR][1000 genomes]
rs60274669	1.00[AMR][1000 genomes]
rs61471505	1.00[AMR][1000 genomes]
rs6843793	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	nsv868815	chr4:57114268-58084688	Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv1012287	chr4:57652778-57853485	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv1012125	chr4:57668229-57865803	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:57793600-57842000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:57793600-57842000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr4:57826600-57840800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr4:57826600-57840800	Strong transcription	Fetal Brain Female	brain
5	chr4:57826600-57840800	Strong transcription	Fetal Muscle Leg	muscle
6	chr4:57826600-57840800	Strong transcription	Fetal Thymus	thymus
7	chr4:57826600-57841000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr4:57826600-57841400	Strong transcription	Fetal Intestine Large	intestine
9	chr4:57826800-57840800	Strong transcription	HUES64 Cell Line	embryonic stem cell
10	chr4:57826800-57840800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr4:57826800-57840800	Weak transcription	Stomach Mucosa	stomach
12	chr4:57827000-57840400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr4:57827000-57843200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr4:57827200-57840200	Strong transcription	H1 Cell Line	embryonic stem cell
15	chr4:57827200-57840400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
16	chr4:57827200-57840400	Strong transcription	Primary B cells from peripheral blood	blood
17	chr4:57827200-57840600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr4:57827200-57840800	Strong transcription	HUES6 Cell Line	embryonic stem cell
19	chr4:57827200-57840800	Strong transcription	Dnd41	blood
20	chr4:57827200-57841000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr4:57827200-57841000	Strong transcription	Fetal Lung	lung
22	chr4:57827200-57841400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr4:57827400-57841000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr4:57827600-57840200	Strong transcription	Primary T helper cells fromperipheralblood	blood
25	chr4:57827600-57840600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr4:57828000-57840400	Strong transcription	Primary T cells fromperipheralblood	blood
27	chr4:57828000-57840600	Strong transcription	Skeletal Muscle Female	skeletal muscle
28	chr4:57828200-57840200	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
29	chr4:57828200-57840400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr4:57828200-57841200	Strong transcription	HUES48 Cell Line	embryonic stem cell
31	chr4:57828800-57840400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
32	chr4:57829400-57840400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr4:57830600-57840200	Strong transcription	Primary T killer memory cells from peripheral blood	blood
34	chr4:57832200-57840200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr4:57834600-57841000	Strong transcription	Cortex derived primary cultured neurospheres	brain
36	chr4:57835000-57840200	Strong transcription	Brain Hippocampus Middle	brain
37	chr4:57835200-57840600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr4:57835400-57842000	Strong transcription	Fetal Stomach	stomach
39	chr4:57835600-57840000	Strong transcription	Lung	lung
40	chr4:57835600-57840400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr4:57835600-57841000	Strong transcription	Right Ventricle	heart
42	chr4:57835800-57840000	Strong transcription	H9 Cell Line	embryonic stem cell
43	chr4:57835800-57840600	Strong transcription	Stomach Smooth Muscle	stomach
44	chr4:57835800-57840800	Strong transcription	Fetal Muscle Trunk	muscle
45	chr4:57836000-57840200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
46	chr4:57836000-57840200	Strong transcription	Primary T helper cells PMA-I stimulated	--
47	chr4:57836200-57840000	Strong transcription	Brain Substantia Nigra	brain
48	chr4:57836200-57840000	Strong transcription	Pancreas	Pancrea
49	chr4:57836200-57840000	Strong transcription	HSMMtube	muscle
50	chr4:57836200-57840200	Strong transcription	Primary T helper naive cells from peripheral blood	blood

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