Variant report

Variant	rs6698214
Chromosome Location	chr1:150589758-150589759
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:9)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:150447560..150450258-chr1:150589429..150592366,2	MCF-7	breast:
2	chr1:150584201..150586681-chr1:150587631..150590116,2	MCF-7	breast:
3	chr1:150575575..150579360-chr1:150586267..150590184,5	MCF-7	breast:
4	chr1:150538995..150557554-chr1:150581886..150604495,126	K562	blood:
5	chr1:150532182..150537720-chr1:150588719..150604935,28	MCF-7	breast:
6	chr1:150588429..150591209-chr1:150660064..150661641,2	K562	blood:
7	chr1:150533573..150536224-chr1:150587960..150590660,2	K562	blood:
8	chr1:150552031..150554415-chr1:150588142..150590737,3	MCF-7	breast:
9	chr1:150544073..150554289-chr1:150582699..150598712,61	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ADAMTSL4-2	chr1:150589415-150590027	ENSG00000248003

No data

Variant related genes	Relation type
ENSG00000264508	Chromatin interaction
ENSG00000203804	Chromatin interaction
ENSG00000143384	Chromatin interaction
ENSG00000264584	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10158528	0.92[AFR][1000 genomes]
rs6660291	0.92[AFR][1000 genomes]
rs6672493	0.92[AFR][1000 genomes]
rs6701043	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7518665	1.00[AFR][1000 genomes]
rs9660105	0.92[AFR][1000 genomes]
rs9662110	0.92[AFR][1000 genomes]
rs9662289	0.92[AFR][1000 genomes]

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	nsv1006838	chr1:150440214-150722783	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	175 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	chr1:150553200-150592000	Weak transcription	Fetal Kidney	kidney
2	chr1:150576200-150591000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr1:150578000-150592600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:150582400-150594400	Weak transcription	Ovary	ovary
5	chr1:150582600-150591800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr1:150584400-150594800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr1:150584400-150600600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr1:150584800-150591400	Weak transcription	Right Ventricle	heart
9	chr1:150584800-150591600	Weak transcription	Rectal Smooth Muscle	rectum
10	chr1:150584800-150594400	Weak transcription	Gastric	stomach
11	chr1:150584800-150596200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr1:150584800-150600200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:150585000-150600000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr1:150585200-150600200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
15	chr1:150585400-150594200	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr1:150585600-150591600	Weak transcription	Psoas Muscle	Psoas
17	chr1:150586200-150591800	Weak transcription	Colon Smooth Muscle	Colon
18	chr1:150586200-150594600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr1:150586400-150592200	Weak transcription	Aorta	Aorta
20	chr1:150586400-150592200	Weak transcription	Brain Substantia Nigra	brain
21	chr1:150586600-150590000	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr1:150586600-150591800	Weak transcription	Brain Angular Gyrus	brain
23	chr1:150586600-150591800	Weak transcription	Pancreatic Islets	Pancreatic Islet
24	chr1:150586600-150592000	Strong transcription	Fetal Stomach	stomach
25	chr1:150586600-150592600	Weak transcription	Right Atrium	heart
26	chr1:150586600-150600400	Strong transcription	Fetal Muscle Trunk	muscle
27	chr1:150586800-150590000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr1:150586800-150591600	Weak transcription	HSMM	muscle
29	chr1:150586800-150591800	Weak transcription	Stomach Smooth Muscle	stomach
30	chr1:150586800-150592200	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr1:150587000-150589800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
32	chr1:150587000-150591600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr1:150587000-150591800	Weak transcription	Primary B cells from cord blood	blood
34	chr1:150587000-150592000	Weak transcription	Brain Hippocampus Middle	brain
35	chr1:150587000-150592000	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr1:150587000-150592800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
37	chr1:150587200-150590000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr1:150587200-150591800	Weak transcription	NHDF-Ad	bronchial
39	chr1:150587200-150592000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr1:150587200-150594400	Strong transcription	H1 Cell Line	embryonic stem cell
41	chr1:150587200-150594600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr1:150587600-150590200	Strong transcription	ES-I3 Cell Line	embryonic stem cell
43	chr1:150587600-150590200	Strong transcription	Fetal Lung	lung
44	chr1:150587600-150590200	Strong transcription	Osteobl	bone
45	chr1:150587600-150592200	Strong transcription	Primary B cells from peripheral blood	blood
46	chr1:150587600-150592400	Strong transcription	Fetal Muscle Leg	muscle
47	chr1:150587600-150592800	Strong transcription	Placenta	Placenta
48	chr1:150587800-150590400	Strong transcription	H9 Cell Line	embryonic stem cell
49	chr1:150587800-150590400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr1:150587800-150591200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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