Variant report

Variant	rs6863191
Chromosome Location	chr5:43600110-43600111
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ZNF384	chr5:43599952-43600126	K562	blood:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:43571687..43573439-chr5:43598421..43600933,2	MCF-7	breast:
2	chr5:43571768..43573353-chr5:43599438..43601590,2	K562	blood:
3	chr5:43597889..43601019-chr5:43601723..43605070,3	MCF-7	breast:
4	chr5:43599927..43602440-chr5:43629272..43630773,2	MCF-7	breast:
5	chr5:43554854..43559895-chr5:43599481..43606699,15	MCF-7	breast:
6	chr5:43599902..43602064-chr5:43626032..43628822,2	K562	blood:
7	chr5:43555487..43559521-chr5:43598404..43605405,16	K562	blood:
8	chr5:43487601..43489492-chr5:43600088..43602160,2	K562	blood:
9	chr5:43552832..43560830-chr5:43598877..43605844,26	MCF-7	breast:
10	chr5:43555382..43559666-chr5:43598979..43604929,17	K562	blood:

No data

Variant related genes	Relation type
NNT	TF binding region
ENSG00000112992	Chromatin interaction
ENSG00000248092	Chromatin interaction
ENSG00000172239	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10512834	0.86[EUR][1000 genomes]
rs16873406	1.00[EUR][1000 genomes]
rs41271077	1.00[EUR][1000 genomes]
rs56193661	0.95[EUR][1000 genomes]
rs6873555	1.00[EUR][1000 genomes]
rs6878798	0.81[EUR][1000 genomes]
rs6881020	0.84[AFR][1000 genomes]
rs6890419	0.81[EUR][1000 genomes]
rs7700826	1.00[EUR][1000 genomes]
rs7702621	0.93[EUR][1000 genomes]
rs7715976	0.81[EUR][1000 genomes]
rs7726212	0.97[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs7732357	0.91[EUR][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	nsv881017	chr5:43444826-43731692	Weak transcription Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	222 gene(s)	inside rSNPs	diseases
2	nsv830275	chr5:43469511-43639384	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	220 gene(s)	inside rSNPs	diseases
3	nsv881108	chr5:43527432-43800333	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6863191	NNT	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:55 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:43565400-43601800	Weak transcription	Fetal Thymus	thymus
2	chr5:43567400-43602000	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr5:43568000-43601800	Weak transcription	Primary B cells from peripheral blood	blood
4	chr5:43568000-43602400	Weak transcription	Pancreas	Pancrea
5	chr5:43568600-43601800	Weak transcription	Fetal Brain Female	brain
6	chr5:43569000-43601400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr5:43570200-43601800	Weak transcription	Right Ventricle	heart
8	chr5:43572000-43602400	Weak transcription	Ovary	ovary
9	chr5:43573000-43601800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr5:43573000-43601800	Weak transcription	Primary T cells fromperipheralblood	blood
11	chr5:43574000-43601800	Weak transcription	Brain Anterior Caudate	brain
12	chr5:43574400-43600800	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr5:43575000-43601400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr5:43576400-43601400	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr5:43577200-43601800	Weak transcription	Fetal Stomach	stomach
16	chr5:43577600-43601600	Weak transcription	Primary B cells from cord blood	blood
17	chr5:43579400-43601800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr5:43582000-43600600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr5:43582400-43601800	Weak transcription	Fetal Muscle Trunk	muscle
20	chr5:43582800-43601800	Weak transcription	Fetal Intestine Large	intestine
21	chr5:43583400-43601600	Weak transcription	Primary hematopoietic stem cells	blood
22	chr5:43583400-43601800	Weak transcription	Fetal Lung	lung
23	chr5:43583600-43600600	Weak transcription	Dnd41	blood
24	chr5:43583800-43601800	Weak transcription	Primary T cells from cord blood	blood
25	chr5:43585000-43600600	Weak transcription	K562	blood
26	chr5:43588400-43601400	Weak transcription	Fetal Intestine Small	intestine
27	chr5:43589600-43601600	Weak transcription	Fetal Brain Male	brain
28	chr5:43590600-43600400	Weak transcription	HepG2	liver
29	chr5:43592600-43601800	Weak transcription	Fetal Muscle Leg	muscle
30	chr5:43593000-43601400	Weak transcription	NHLF	lung
31	chr5:43593200-43600600	Weak transcription	GM12878-XiMat	blood
32	chr5:43593400-43601000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr5:43596000-43601800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr5:43597600-43601600	Weak transcription	NHDF-Ad	bronchial
35	chr5:43598000-43601800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr5:43598600-43600600	Weak transcription	Liver	Liver
37	chr5:43598800-43602000	Weak transcription	Gastric	stomach
38	chr5:43599600-43600200	Genic enhancers	Left Ventricle	heart
39	chr5:43599600-43600400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
40	chr5:43599600-43600400	Enhancers	HUES48 Cell Line	embryonic stem cell
41	chr5:43599600-43600600	Enhancers	iPS-18 Cell Line	embryonic stem cell
42	chr5:43599600-43600600	Enhancers	Psoas Muscle	Psoas
43	chr5:43599600-43601000	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr5:43599600-43601400	Enhancers	Fetal Heart	heart
45	chr5:43599600-43601800	Weak transcription	Stomach Mucosa	stomach
46	chr5:43599800-43600200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
47	chr5:43599800-43600400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr5:43599800-43601000	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr5:43600000-43600200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr5:43600000-43600400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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