Variant report

Variant	rs138858711
Chromosome Location	chr8:59512122-59512123
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:59511751-59512928	K562	blood:	n/a	n/a

Variant related genes	Relation type
NSMAF	TF binding region

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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	nsv890938	chr8:59355053-59809785	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv890939	chr8:59471187-59544413	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv1031537	chr8:59482949-59536971	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv831325	chr8:59492580-59694443	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	esv3448540	chr8:59512021-59512345	Weak transcription Strong transcription	TF binding region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:59467400-59559400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr8:59472800-59515800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:59477600-59514200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr8:59480600-59515800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr8:59483800-59528000	Strong transcription	Dnd41	blood
6	chr8:59495200-59512800	Strong transcription	Fetal Muscle Leg	muscle
7	chr8:59498600-59548400	Weak transcription	Stomach Mucosa	stomach
8	chr8:59500200-59524600	Weak transcription	HepG2	liver
9	chr8:59500600-59521000	Weak transcription	Fetal Heart	heart
10	chr8:59500600-59528800	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr8:59502000-59512800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr8:59503000-59545400	Weak transcription	Esophagus	oesophagus
13	chr8:59505200-59513000	Strong transcription	Duodenum Mucosa	Duodenum
14	chr8:59505400-59513000	Strong transcription	Fetal Muscle Trunk	muscle
15	chr8:59505600-59512800	Strong transcription	Rectal Mucosa Donor 29	rectum
16	chr8:59506000-59513000	Strong transcription	Fetal Lung	lung
17	chr8:59506000-59516800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr8:59506400-59513000	Strong transcription	Fetal Stomach	stomach
19	chr8:59506600-59512800	Strong transcription	Brain Inferior Temporal Lobe	brain
20	chr8:59507400-59561200	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr8:59507600-59521800	Weak transcription	Spleen	Spleen
22	chr8:59507600-59524800	Weak transcription	Fetal Kidney	kidney
23	chr8:59507600-59525200	Weak transcription	Ovary	ovary
24	chr8:59507600-59545400	Weak transcription	Gastric	stomach
25	chr8:59507800-59514000	Weak transcription	Colon Smooth Muscle	Colon
26	chr8:59508000-59515800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr8:59508000-59521000	Weak transcription	Brain Hippocampus Middle	brain
28	chr8:59508000-59523400	Weak transcription	Pancreas	Pancrea
29	chr8:59508000-59538800	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr8:59508000-59545400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr8:59508200-59514200	Weak transcription	Rectal Smooth Muscle	rectum
32	chr8:59508200-59515800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr8:59508200-59533800	Weak transcription	Small Intestine	intestine
34	chr8:59508200-59542200	Weak transcription	Aorta	Aorta
35	chr8:59508200-59542400	Weak transcription	Psoas Muscle	Psoas
36	chr8:59508800-59521000	Weak transcription	Fetal Brain Male	brain
37	chr8:59509000-59512400	Weak transcription	Hela-S3	cervix
38	chr8:59509000-59514400	Strong transcription	HUES6 Cell Line	embryonic stem cell
39	chr8:59509000-59514400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr8:59509000-59515800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr8:59509000-59524000	Strong transcription	Fetal Thymus	thymus
42	chr8:59509000-59542200	Weak transcription	Brain Cingulate Gyrus	brain
43	chr8:59509000-59543000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr8:59509000-59560400	Weak transcription	Brain Substantia Nigra	brain
45	chr8:59509200-59512200	Weak transcription	NHEK	skin
46	chr8:59509200-59512200	Weak transcription	NHLF	lung
47	chr8:59509200-59512400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr8:59509200-59512400	Weak transcription	A549	lung
49	chr8:59509200-59512800	Strong transcription	Duodenum Smooth Muscle	Duodenum
50	chr8:59509200-59512800	Strong transcription	Fetal Intestine Large	intestine

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