Variant report

Variant	rs273969
Chromosome Location	chr7:137588369-137588370
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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:137586611..137590329-chr7:137683415..137689120,5	MCF-7	breast:
2	chr7:137588152..137589107-chr7:137691841..137692584,3	K562	blood:
3	chr7:137588111..137588997-chr7:137684963..137685652,2	MCF-7	breast:
4	chr7:137588132..137589223-chr7:137692976..137694528,9	MCF-7	breast:
5	chr7:137587289..137589921-chr7:137595716..137597965,2	MCF-7	breast:
6	chr7:137588282..137589029-chr7:137845978..137846860,2	K562	blood:
7	chr7:137588062..137588984-chr7:137693187..137694172,4	MCF-7	breast:
8	chr7:137587845..137589721-chr7:137692660..137694705,36	K562	blood:
9	chr7:137588115..137589486-chr7:137686760..137687662,5	K562	blood:
10	chr7:137587004..137588970-chr7:137694477..137697476,2	K562	blood:
11	chr7:137587919..137589974-chr7:138035321..138037174,2	K562	blood:
12	chr7:137584438..137586090-chr7:137588352..137591212,2	MCF-7	breast:
13	chr7:137588025..137588693-chr7:138422942..138423794,2	MCF-7	breast:
14	chr7:137587081..137590120-chr7:137692557..137694516,4	MCF-7	breast:
15	chr7:137588115..137589032-chr7:137782020..137782614,2	K562	blood:
16	chr7:137588092..137589015-chr7:137746698..137747545,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000122787	Chromatin interaction
ENSG00000182158	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs1677499	0.84[CEU][hapmap];0.92[MEX][hapmap]
rs273970	0.84[CEU][hapmap]
rs273971	0.84[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022793	chr7:137187383-137619359	Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv831150	chr7:137500559-137652808	Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv518070	chr7:137534627-137808839	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs273969	SLC37A3	cis	parietal	SCAN
rs273969	KIAA1549	cis	cerebellum	SCAN

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:137558800-137588400	Weak transcription	Stomach Mucosa	stomach
2	chr7:137575400-137591800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr7:137580000-137588400	Weak transcription	Fetal Kidney	kidney
4	chr7:137581000-137588400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr7:137581000-137589800	Weak transcription	Spleen	Spleen
6	chr7:137584000-137588600	Strong transcription	Fetal Stomach	stomach
7	chr7:137584200-137588600	Strong transcription	HepG2	liver
8	chr7:137584200-137588600	Strong transcription	HSMMtube	muscle
9	chr7:137584200-137588800	Strong transcription	NHEK	skin
10	chr7:137584200-137601000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr7:137584200-137612000	Weak transcription	Fetal Brain Male	brain
12	chr7:137584400-137588400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr7:137584400-137588400	Strong transcription	Stomach Smooth Muscle	stomach
14	chr7:137584400-137588600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr7:137584400-137588600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr7:137584400-137588600	Weak transcription	Aorta	Aorta
17	chr7:137584400-137588600	Strong transcription	NH-A	brain
18	chr7:137584400-137589000	Strong transcription	Fetal Muscle Trunk	muscle
19	chr7:137584400-137589800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr7:137584400-137590200	Weak transcription	Small Intestine	intestine
21	chr7:137584400-137591800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr7:137584400-137593200	Strong transcription	Muscle Satellite Cultured Cells	--
23	chr7:137584400-137597200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr7:137584400-137601600	Strong transcription	Fetal Intestine Large	intestine
25	chr7:137584600-137588400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr7:137584600-137588400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr7:137584600-137588400	Weak transcription	Brain Anterior Caudate	brain
28	chr7:137584600-137588600	Weak transcription	Thymus	Thymus
29	chr7:137584600-137589000	Strong transcription	HSMM	muscle
30	chr7:137584600-137591600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr7:137584600-137591600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr7:137584600-137592800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr7:137584600-137593000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr7:137584600-137593400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
35	chr7:137584600-137604800	Weak transcription	Right Atrium	heart
36	chr7:137584800-137588400	Strong transcription	H1 Cell Line	embryonic stem cell
37	chr7:137584800-137588400	Strong transcription	Osteobl	bone
38	chr7:137584800-137588800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr7:137584800-137593000	Strong transcription	Ovary	ovary
40	chr7:137585000-137588400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr7:137585000-137588400	Strong transcription	Liver	Liver
42	chr7:137585000-137588400	Strong transcription	Monocytes-CD14+_RO01746	blood
43	chr7:137585000-137588600	Strong transcription	ES-I3 Cell Line	embryonic stem cell
44	chr7:137585000-137588600	Strong transcription	HUES48 Cell Line	embryonic stem cell
45	chr7:137585000-137588600	Strong transcription	Placenta	Placenta
46	chr7:137585000-137588600	Strong transcription	K562	blood
47	chr7:137585000-137589000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
48	chr7:137585000-137604800	Weak transcription	Psoas Muscle	Psoas
49	chr7:137585000-137605800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
50	chr7:137585200-137588400	Strong transcription	Adipose Nuclei	Adipose

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