Variant report

Variant	rs74070835
Chromosome Location	chr1:45508403-45508404
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:45503364..45509535-chr1:45510898..45517046,6	K562	blood:
2	chr1:45293006..45294513-chr1:45507730..45509268,2	K562	blood:
3	chr1:45505490..45509535-chr1:45509540..45512957,3	K562	blood:

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

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs60253555	1.00[AMR][1000 genomes]
rs61559471	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74070839	1.00[AMR][1000 genomes]
rs74070878	0.81[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529677	chr1:45179509-45748571	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	424 gene(s)	inside rSNPs	diseases
2	nsv1002026	chr1:45187594-45758048	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	386 gene(s)	inside rSNPs	diseases
3	nsv915644	chr1:45282802-45696079	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
4	nsv498036	chr1:45428030-46050934	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
5	nsv546148	chr1:45500294-45627663	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45480800-45510400	Weak transcription	Colon Smooth Muscle	Colon
2	chr1:45481200-45510200	Weak transcription	Lung	lung
3	chr1:45481200-45525000	Weak transcription	Rectal Smooth Muscle	rectum
4	chr1:45481200-45527400	Weak transcription	Left Ventricle	heart
5	chr1:45482000-45523800	Weak transcription	Cortex derived primary cultured neurospheres	brain
6	chr1:45491800-45516400	Weak transcription	Spleen	Spleen
7	chr1:45497400-45525400	Weak transcription	Gastric	stomach
8	chr1:45498000-45525600	Weak transcription	Pancreas	Pancrea
9	chr1:45499200-45516200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
10	chr1:45500400-45516600	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr1:45501400-45516600	Weak transcription	Small Intestine	intestine
12	chr1:45501800-45516200	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr1:45501800-45521200	Weak transcription	Brain Hippocampus Middle	brain
14	chr1:45501800-45527000	Weak transcription	Fetal Brain Male	brain
15	chr1:45502000-45508600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr1:45502000-45510600	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr1:45502000-45512800	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr1:45502000-45523800	Weak transcription	Brain Cingulate Gyrus	brain
19	chr1:45502400-45523000	Weak transcription	Aorta	Aorta
20	chr1:45504000-45509800	Strong transcription	Brain Germinal Matrix	brain
21	chr1:45504000-45510400	Weak transcription	Hela-S3	cervix
22	chr1:45504200-45524200	Weak transcription	Esophagus	oesophagus
23	chr1:45504400-45524000	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr1:45504800-45516400	Weak transcription	Fetal Intestine Large	intestine
25	chr1:45505000-45526000	Weak transcription	Fetal Stomach	stomach
26	chr1:45505200-45508600	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr1:45505200-45508800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr1:45505200-45514600	Weak transcription	Fetal Intestine Small	intestine
29	chr1:45507600-45509000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr1:45507600-45509400	Strong transcription	Duodenum Mucosa	Duodenum
31	chr1:45507600-45527000	Weak transcription	Fetal Kidney	kidney
32	chr1:45507800-45509400	Enhancers	iPS-15b Cell Line	embryonic stem cell
33	chr1:45507800-45509600	Strong transcription	Stomach Smooth Muscle	stomach
34	chr1:45508000-45508600	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr1:45508000-45508800	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr1:45508000-45509000	Enhancers	HUES48 Cell Line	embryonic stem cell
37	chr1:45508000-45509000	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr1:45508000-45509000	Strong transcription	Brain Angular Gyrus	brain
39	chr1:45508000-45509000	Strong transcription	Brain Inferior Temporal Lobe	brain
40	chr1:45508000-45509200	Strong transcription	Brain Substantia Nigra	brain
41	chr1:45508000-45509200	Strong transcription	Ovary	ovary
42	chr1:45508000-45509400	Strong transcription	Fetal Brain Female	brain
43	chr1:45508000-45509600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr1:45508200-45509200	Strong transcription	Brain Anterior Caudate	brain
45	chr1:45508200-45509400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr1:45508400-45508800	Strong transcription	Primary T helper cells PMA-I stimulated	--
47	chr1:45508400-45509000	Enhancers	H1 Cell Line	embryonic stem cell
48	chr1:45508400-45509200	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr1:45508400-45509600	Strong transcription	HepG2	liver

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