Variant report

Variant	rs28629798
Chromosome Location	chr12:104889033-104889034
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:104887555..104889139-chr12:104891204..104893677,2	K562	blood:
2	chr12:104876677..104879866-chr12:104887122..104889642,3	K562	blood:
3	chr12:104878866..104881673-chr12:104885573..104889432,3	K562	blood:

Extended variants
information (count: 5 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs17035655	0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2091769	1.00[ASN][1000 genomes]

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	nsv832502	chr12:104833729-104908288	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
2	nsv832504	chr12:104853331-105028245	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
3	nsv868	chr12:104858964-104895572	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs28629798	CHST11	cis	cerebellar cortex	BrainEAC

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:104869200-104899600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr12:104873200-104895400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr12:104875200-104895400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr12:104875200-104897000	Weak transcription	NHEK	skin
5	chr12:104875400-104904200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr12:104879600-104893200	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr12:104880000-104890800	Weak transcription	Colonic Mucosa	Colon
8	chr12:104880000-104893000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr12:104880000-104897800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr12:104880600-104897000	Weak transcription	Stomach Smooth Muscle	stomach
11	chr12:104881000-104889600	Weak transcription	Brain Hippocampus Middle	brain
12	chr12:104881200-104890600	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr12:104881400-104890000	Weak transcription	Fetal Muscle Leg	muscle
14	chr12:104881600-104898600	Weak transcription	A549	lung
15	chr12:104882600-104889800	Weak transcription	Fetal Heart	heart
16	chr12:104882600-104893200	Weak transcription	HUES6 Cell Line	embryonic stem cell
17	chr12:104882600-104900600	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr12:104884200-104890800	Weak transcription	Right Ventricle	heart
19	chr12:104884200-104898000	Weak transcription	Gastric	stomach
20	chr12:104885400-104891200	Genic enhancers	Dnd41	blood
21	chr12:104887000-104889200	Enhancers	Brain Anterior Caudate	brain
22	chr12:104887000-104889800	Enhancers	Primary monocytes fromperipheralblood	blood
23	chr12:104887200-104891200	Enhancers	Sigmoid Colon	Sigmoid Colon
24	chr12:104887200-104903000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr12:104887600-104889200	Flanking Active TSS	Osteobl	bone
26	chr12:104887600-104899400	Enhancers	Fetal Thymus	thymus
27	chr12:104887800-104889200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr12:104887800-104889200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
29	chr12:104887800-104889200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr12:104887800-104889800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr12:104887800-104891000	Weak transcription	Primary B cells from cord blood	blood
32	chr12:104888000-104889200	Enhancers	Primary neutrophils fromperipheralblood	blood
33	chr12:104888000-104890400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr12:104888000-104890600	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr12:104888000-104897200	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr12:104888000-104900200	Weak transcription	Brain Substantia Nigra	brain
37	chr12:104888200-104889200	Active TSS	Duodenum Mucosa	Duodenum
38	chr12:104888200-104889200	Active TSS	NHLF	lung
39	chr12:104888200-104890600	Weak transcription	Left Ventricle	heart
40	chr12:104888200-104890600	Weak transcription	Small Intestine	intestine
41	chr12:104888200-104890600	Weak transcription	Spleen	Spleen
42	chr12:104888200-104891400	Weak transcription	Lung	lung
43	chr12:104888200-104893000	Weak transcription	Placenta	Placenta
44	chr12:104888200-104893400	Weak transcription	Rectal Smooth Muscle	rectum
45	chr12:104888200-104894600	Weak transcription	Esophagus	oesophagus
46	chr12:104888200-104896600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr12:104888400-104889400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr12:104888400-104890800	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr12:104888400-104892000	Weak transcription	NH-A	brain
50	chr12:104888400-104893600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain

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