Variant report

Variant	rs833805
Chromosome Location	chr6:44030011-44030012
allele	A/G
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:43736227..43739136-chr6:44029412..44032066,3	MCF-7	breast:
2	chr6:44028252..44030962-chr6:44034366..44036561,2	MCF-7	breast:
3	chr6:43939746..43941971-chr6:44028407..44030757,2	MCF-7	breast:
4	chr6:43969325..43971101-chr6:44029375..44032294,2	K562	blood:
5	chr6:43878483..43880923-chr6:44028958..44031192,2	K562	blood:
6	chr6:43597374..43599512-chr6:44028533..44030422,2	K562	blood:
7	chr6:43995552..43998712-chr6:44027806..44030689,4	K562	blood:
8	chr6:44023933..44027235-chr6:44028929..44032917,4	MCF-7	breast:
9	chr6:43995552..43997758-chr6:44027806..44030081,2	K562	blood:
10	chr6:43737832..43742608-chr6:44022679..44030318,9	MCF-7	breast:
11	chr6:43691050..43692636-chr6:44027843..44030464,2	MCF-7	breast:
12	chr6:43962006..43963734-chr6:44027610..44030274,2	K562	blood:
13	chr6:43894374..43896257-chr6:44029286..44032108,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000112715	Chromatin interaction
ENSG00000272114	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs4711764	1.00[ASW][hapmap]
rs4714738	1.00[ASW][hapmap]
rs4714754	1.00[ASW][hapmap]
rs4714759	1.00[ASW][hapmap]
rs729391	1.00[ASW][hapmap]
rs833806	0.80[AMR][1000 genomes]
rs9357432	1.00[ASW][hapmap]
rs9369453	1.00[ASW][hapmap]
rs9369454	1.00[ASW][hapmap]

Variant overlapped rSNPs/rCNVs (count:1 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:44005800-44036800	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr6:44016000-44030600	Enhancers	NHDF-Ad	bronchial
3	chr6:44016600-44030400	Enhancers	Placenta Amnion	Placenta Amnion
4	chr6:44016600-44030400	Enhancers	Osteobl	bone
5	chr6:44020200-44030400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr6:44020800-44036200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr6:44022400-44040400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr6:44024000-44030400	Enhancers	NHLF	lung
9	chr6:44024000-44033800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr6:44024000-44034000	Enhancers	NH-A	brain
11	chr6:44024000-44036200	Enhancers	HMEC	breast
12	chr6:44024000-44036600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr6:44024200-44030400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr6:44024200-44033600	Enhancers	Fetal Muscle Leg	muscle
15	chr6:44024400-44033400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr6:44024600-44035800	Enhancers	Skeletal Muscle Female	skeletal muscle
17	chr6:44025800-44031000	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr6:44026800-44030200	Weak transcription	Aorta	Aorta
19	chr6:44026800-44035000	Weak transcription	Pancreas	Pancrea
20	chr6:44027000-44030400	Weak transcription	Fetal Thymus	thymus
21	chr6:44027000-44033000	Enhancers	HSMM	muscle
22	chr6:44027000-44034800	Weak transcription	Fetal Lung	lung
23	chr6:44027200-44030800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr6:44027200-44030800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr6:44027200-44030800	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr6:44027200-44030800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr6:44027200-44031800	Weak transcription	Colonic Mucosa	Colon
28	chr6:44027400-44032400	Weak transcription	Duodenum Mucosa	Duodenum
29	chr6:44027400-44032800	Weak transcription	Lung	lung
30	chr6:44027600-44032000	Enhancers	Hela-S3	cervix
31	chr6:44027600-44032200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr6:44027800-44030600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr6:44027800-44031000	Weak transcription	Spleen	Spleen
34	chr6:44027800-44031800	Weak transcription	HUVEC	blood vessel
35	chr6:44028200-44031200	Enhancers	Colon Smooth Muscle	Colon
36	chr6:44028200-44033200	Enhancers	NHEK	skin
37	chr6:44028400-44031000	Enhancers	Stomach Smooth Muscle	stomach
38	chr6:44028400-44031600	Enhancers	Monocytes-CD14+_RO01746	blood
39	chr6:44028400-44031800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr6:44028400-44033600	Enhancers	Fetal Heart	heart
41	chr6:44028600-44031600	Weak transcription	Placenta	Placenta
42	chr6:44028600-44033000	Enhancers	Fetal Muscle Trunk	muscle
43	chr6:44028800-44030200	Enhancers	Rectal Smooth Muscle	rectum
44	chr6:44028800-44030600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr6:44028800-44030600	Enhancers	Muscle Satellite Cultured Cells	--
46	chr6:44028800-44030600	Enhancers	Brain Angular Gyrus	brain
47	chr6:44028800-44030600	Enhancers	HSMMtube	muscle
48	chr6:44028800-44030800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
49	chr6:44029000-44030400	Enhancers	Brain Cingulate Gyrus	brain
50	chr6:44029200-44030400	Enhancers	Brain Hippocampus Middle	brain

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