Variant report

Variant	rs7973103
Chromosome Location	chr12:124424636-124424637
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:124419434..124422110-chr12:124423989..124426076,2	K562	blood:
2	chr12:124423442..124425248-chr12:124427955..124429927,2	MCF-7	breast:
3	chr12:124417812..124421208-chr12:124423467..124426187,5	MCF-7	breast:
4	chr12:124397482..124399331-chr12:124424154..124425975,2	K562	blood:

Variant related genes	Relation type
ENSG00000270005	Chromatin interaction
ENSG00000119242	Chromatin interaction
ENSG00000250091	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1022320	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1022321	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs10744163	1.00[CHB][hapmap]
rs10846556	1.00[ASN][1000 genomes]
rs10846559	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs10846569	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11057355	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs11057358	1.00[ASN][1000 genomes]
rs1114628	1.00[CHB][hapmap]
rs11832329	1.00[ASN][1000 genomes]
rs11835233	1.00[ASN][1000 genomes]
rs11835252	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs1568027	1.00[ASN][1000 genomes]
rs1568029	1.00[ASN][1000 genomes]
rs1568030	1.00[CHB][hapmap]
rs2340692	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2674504	1.00[ASN][1000 genomes]
rs2674506	1.00[ASN][1000 genomes]
rs34535130	1.00[ASN][1000 genomes]
rs4930728	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs4930732	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs56399357	1.00[ASN][1000 genomes]
rs61953572	1.00[ASN][1000 genomes]
rs67861770	1.00[ASN][1000 genomes]
rs7136121	1.00[ASN][1000 genomes]
rs7137299	1.00[ASN][1000 genomes]
rs7137310	1.00[ASN][1000 genomes]
rs71458816	1.00[ASN][1000 genomes]
rs7296574	0.83[YRI][hapmap]
rs7303002	1.00[ASN][1000 genomes]
rs7980102	0.83[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498024	chr12:123994372-124459856	Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	esv1811815	chr12:124374716-124424636	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	esv1832870	chr12:124374716-124424636	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	nsv522321	chr12:124383950-124424636	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7973103	CCDC92	cis	cerebellum	SCAN
rs7973103	OGFOD2	cis	cerebellum	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:124408800-124428000	Weak transcription	Right Atrium	heart
2	chr12:124409600-124426200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:124417600-124443600	Weak transcription	Fetal Kidney	kidney
4	chr12:124417800-124427400	Weak transcription	Fetal Brain Male	brain
5	chr12:124417800-124428400	Strong transcription	Brain Germinal Matrix	brain
6	chr12:124418000-124428400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr12:124418000-124431000	Strong transcription	Cortex derived primary cultured neurospheres	brain
8	chr12:124418200-124426200	Strong transcription	Fetal Intestine Small	intestine
9	chr12:124418200-124427800	Strong transcription	Fetal Brain Female	brain
10	chr12:124418200-124430800	Strong transcription	Stomach Smooth Muscle	stomach
11	chr12:124418200-124431400	Strong transcription	Fetal Stomach	stomach
12	chr12:124418600-124430800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr12:124419000-124428400	Strong transcription	Fetal Muscle Leg	muscle
14	chr12:124419200-124426200	Weak transcription	Fetal Heart	heart
15	chr12:124419400-124426400	Weak transcription	A549	lung
16	chr12:124419800-124425000	Weak transcription	NHDF-Ad	bronchial
17	chr12:124419800-124426000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr12:124419800-124426200	Strong transcription	Fetal Intestine Large	intestine
19	chr12:124420000-124425800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr12:124420200-124433000	Weak transcription	Small Intestine	intestine
21	chr12:124420600-124426000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr12:124420600-124430800	Strong transcription	Pancreas	Pancrea
23	chr12:124420800-124425800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr12:124420800-124427800	Strong transcription	Right Ventricle	heart
25	chr12:124420800-124432600	Weak transcription	HepG2	liver
26	chr12:124421000-124430600	Strong transcription	Skeletal Muscle Male	skeletal muscle
27	chr12:124421600-124424800	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr12:124421600-124426000	Weak transcription	Rectal Smooth Muscle	rectum
29	chr12:124421600-124427600	Weak transcription	Brain Angular Gyrus	brain
30	chr12:124422000-124426200	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr12:124422200-124426200	Weak transcription	NHLF	lung
32	chr12:124422200-124426400	Weak transcription	Pancreatic Islets	Pancreatic Islet
33	chr12:124422400-124439200	Weak transcription	Psoas Muscle	Psoas
34	chr12:124422600-124426000	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr12:124423000-124426400	Weak transcription	Colon Smooth Muscle	Colon
36	chr12:124423000-124432800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr12:124423400-124426000	Weak transcription	Primary hematopoietic stem cells	blood
38	chr12:124423400-124426000	Weak transcription	NH-A	brain
39	chr12:124423400-124426200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr12:124423400-124426200	Weak transcription	Primary B cells from cord blood	blood
41	chr12:124423400-124426200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr12:124423400-124427800	Strong transcription	Fetal Muscle Trunk	muscle
43	chr12:124423400-124429800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr12:124423600-124425000	Weak transcription	Primary monocytes fromperipheralblood	blood
45	chr12:124423600-124425200	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr12:124423600-124425400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr12:124423600-124425600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr12:124423600-124425800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr12:124423600-124426200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr12:124423600-124426200	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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