Variant report

Variant	rs7763084
Chromosome Location	chr6:44051846-44051847
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

No data

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

No.	Distal block	Cell Line	Cell type
1	chr6:44050736..44053615-chr6:44088297..44091106,2	K562	blood:
2	chr6:44049188..44054493-chr6:44055504..44059835,8	K562	blood:
3	chr6:44050431..44053412-chr6:44195208..44197265,2	K562	blood:
4	chr6:44042146..44045888-chr6:44050607..44053164,3	K562	blood:
5	chr6:43737402..43739152-chr6:44050768..44053615,2	MCF-7	breast:
6	chr6:43737831..43739407-chr6:44050435..44052989,3	MCF-7	breast:
7	chr6:43730164..43744120-chr6:44034600..44052665,50	K562	blood:
8	chr6:44051124..44053637-chr6:44204273..44206013,2	MCF-7	breast:
9	chr6:43631079..43633265-chr6:44050787..44052606,2	K562	blood:
10	chr6:43595314..43597956-chr6:44050450..44052500,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000183239	Chromatin interaction
ENSG00000124688	Chromatin interaction
ENSG00000237686	Chromatin interaction
ENSG00000272114	Chromatin interaction
ENSG00000112715	Chromatin interaction
ENSG00000172432	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs34978340	0.81[ASN][1000 genomes]
rs58635644	0.82[ASN][1000 genomes]
rs72855955	0.81[ASN][1000 genomes]
rs72867268	0.80[ASN][1000 genomes]
rs72867275	0.82[ASN][1000 genomes]
rs72867277	0.82[ASN][1000 genomes]
rs72867290	0.86[ASN][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	nsv931987	chr6:43624625-44350167	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	201 gene(s)	inside rSNPs	diseases
2	nsv462935	chr6:44046143-44117607	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	nsv603002	chr6:44046143-44117607	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:44042800-44055000	Weak transcription	Osteobl	bone
2	chr6:44044200-44067000	Weak transcription	NHDF-Ad	bronchial
3	chr6:44044600-44067600	Weak transcription	Spleen	Spleen
4	chr6:44044800-44054600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr6:44044800-44062200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr6:44044800-44067000	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr6:44044800-44067400	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr6:44044800-44070200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr6:44044800-44071400	Weak transcription	Colon Smooth Muscle	Colon
10	chr6:44045000-44052000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr6:44045000-44052000	Weak transcription	Esophagus	oesophagus
12	chr6:44045000-44052000	Weak transcription	Right Atrium	heart
13	chr6:44045000-44052200	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr6:44045000-44067400	Weak transcription	Brain Anterior Caudate	brain
15	chr6:44045000-44071800	Weak transcription	Aorta	Aorta
16	chr6:44045600-44067000	Weak transcription	Fetal Brain Female	brain
17	chr6:44046200-44057000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr6:44047000-44054600	Weak transcription	Pancreas	Pancrea
19	chr6:44047000-44066600	Weak transcription	Thymus	Thymus
20	chr6:44047200-44056800	Weak transcription	Brain Hippocampus Middle	brain
21	chr6:44047200-44057000	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr6:44047400-44052000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr6:44047400-44052000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr6:44047400-44054600	Weak transcription	Fetal Intestine Small	intestine
25	chr6:44047400-44054600	Weak transcription	Fetal Stomach	stomach
26	chr6:44047400-44056800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr6:44047400-44059000	Weak transcription	Fetal Brain Male	brain
28	chr6:44047400-44061600	Weak transcription	Stomach Smooth Muscle	stomach
29	chr6:44047400-44061800	Weak transcription	Brain Angular Gyrus	brain
30	chr6:44047400-44062000	Weak transcription	Brain Germinal Matrix	brain
31	chr6:44047400-44062000	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr6:44047400-44067200	Weak transcription	Dnd41	blood
33	chr6:44047400-44067400	Weak transcription	Primary B cells from peripheral blood	blood
34	chr6:44047400-44067600	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr6:44047400-44069200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr6:44047400-44071400	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr6:44047600-44052000	Weak transcription	K562	blood
38	chr6:44048000-44052000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr6:44048800-44052000	Weak transcription	Hela-S3	cervix
40	chr6:44048800-44052200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr6:44048800-44060800	Weak transcription	NHLF	lung
42	chr6:44049000-44052200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr6:44049200-44062000	Weak transcription	Ovary	ovary
44	chr6:44049400-44052800	Enhancers	Fetal Heart	heart
45	chr6:44049400-44061800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr6:44049400-44061800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr6:44049400-44067000	Weak transcription	GM12878-XiMat	blood
48	chr6:44049600-44052200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr6:44049800-44061800	Weak transcription	Fetal Thymus	thymus
50	chr6:44050200-44055800	Enhancers	HepG2	liver

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