Variant report

Variant	rs9506206
Chromosome Location	chr13:30164963-30164964
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr13:30164445-30164989	GM12891	blood:	n/a	n/a
2	POLR2A	chr13:30164461-30165037	GM12892	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr13:30163424..30165091-chr13:31039254..31040913,2	K562	blood:
2	chr13:30164095..30165741-chr13:30171298..30173970,2	MCF-7	breast:
3	chr13:30142261..30144231-chr13:30163491..30165148,2	MCF-7	breast:
4	chr13:30087328..30089533-chr13:30164162..30166342,2	MCF-7	breast:
5	chr13:30164682..30166932-chr13:30278422..30280468,2	MCF-7	breast:
6	chr13:30163838..30166172-chr13:30279497..30282436,2	K562	blood:

No data

Variant related genes	Relation type
SLC7A1	TF binding region
ENSG00000189403	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs2137395	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3803266	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs7338758	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs9508499	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9550483	0.85[ASN][1000 genomes]
rs9551700	0.85[ASN][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	nsv979	chr13:30122254-30167821	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30128800-30168200	Weak transcription	Primary T cells from cord blood	blood
2	chr13:30148400-30167400	Weak transcription	Primary B cells from peripheral blood	blood
3	chr13:30152600-30168200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr13:30156400-30168400	Weak transcription	Monocytes-CD14+_RO01746	blood
5	chr13:30156800-30168200	Weak transcription	Fetal Brain Female	brain
6	chr13:30156800-30168400	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr13:30157200-30168400	Weak transcription	Brain Germinal Matrix	brain
8	chr13:30157600-30166000	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr13:30157600-30168200	Weak transcription	Duodenum Mucosa	Duodenum
10	chr13:30157600-30168200	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr13:30157800-30166400	Weak transcription	Lung	lung
12	chr13:30157800-30168200	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr13:30157800-30168400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr13:30157800-30168400	Weak transcription	Small Intestine	intestine
15	chr13:30157800-30168600	Weak transcription	Ovary	ovary
16	chr13:30158000-30168600	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr13:30158200-30166800	Weak transcription	Fetal Thymus	thymus
18	chr13:30158200-30168400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr13:30158800-30165600	Weak transcription	A549	lung
20	chr13:30159400-30165800	Weak transcription	K562	blood
21	chr13:30159400-30168200	Weak transcription	Brain Angular Gyrus	brain
22	chr13:30159800-30165600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr13:30160000-30167400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr13:30160000-30168400	Weak transcription	Psoas Muscle	Psoas
25	chr13:30160200-30167000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr13:30160800-30165400	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr13:30161400-30165400	Genic enhancers	Osteobl	bone
28	chr13:30161400-30167400	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr13:30161600-30165400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr13:30161600-30165600	Weak transcription	HUVEC	blood vessel
31	chr13:30162000-30165200	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr13:30162000-30168400	Weak transcription	Aorta	Aorta
33	chr13:30162200-30168400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr13:30162600-30165000	Enhancers	H1 Cell Line	embryonic stem cell
35	chr13:30162600-30165800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr13:30162600-30167200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr13:30162600-30167800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr13:30162600-30168200	Weak transcription	Primary B cells from cord blood	blood
39	chr13:30162600-30168200	Weak transcription	Primary hematopoietic stem cells	blood
40	chr13:30163000-30166000	Genic enhancers	Dnd41	blood
41	chr13:30163000-30166200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr13:30163000-30167600	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr13:30163000-30167800	Enhancers	NHDF-Ad	bronchial
44	chr13:30163200-30167600	Enhancers	Pancreas	Pancrea
45	chr13:30164000-30165000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr13:30164000-30165800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr13:30164000-30165800	Weak transcription	HSMMtube	muscle
48	chr13:30164000-30168000	Enhancers	Primary T helper cells fromperipheralblood	blood
49	chr13:30164000-30168400	Weak transcription	Fetal Stomach	stomach
50	chr13:30164000-30168600	Weak transcription	Right Atrium	heart

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