Variant report

Variant	rs17035655
Chromosome Location	chr12:104886384-104886385
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:104885329..104887209-chr12:104893260..104894913,2	K562	blood:
2	chr12:104878866..104881673-chr12:104885573..104889432,3	K562	blood:

Extended variants
information (count: 7 )
Associated
traits (count: 3 )

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

rs_ID	r²[population]
rs1922261	1.00[CHD][hapmap]
rs2091769	1.00[ASN][1000 genomes]
rs28629798	0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]

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	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
4	nsv1042647	chr12:104861494-104888494	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs17035655	SPIC	cis	cerebellum	SCAN
rs17035655	CHST11	cis	cerebellum	SCAN
rs17035655	UTP20	cis	cerebellum	SCAN

Chromatin state (count:78 , 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	chr12:104872800-104887000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr12:104873000-104887600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
4	chr12:104873200-104895400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr12:104875000-104887000	Weak transcription	Placenta	Placenta
6	chr12:104875200-104888000	Weak transcription	HMEC	breast
7	chr12:104875200-104895400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr12:104875200-104897000	Weak transcription	NHEK	skin
9	chr12:104875400-104904200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr12:104877800-104887000	Enhancers	Primary T cells fromperipheralblood	blood
11	chr12:104879600-104893200	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr12:104880000-104886800	Enhancers	Fetal Thymus	thymus
13	chr12:104880000-104890800	Weak transcription	Colonic Mucosa	Colon
14	chr12:104880000-104893000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
15	chr12:104880000-104897800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
16	chr12:104880400-104887400	Weak transcription	Esophagus	oesophagus
17	chr12:104880600-104889000	Weak transcription	Fetal Stomach	stomach
18	chr12:104880600-104897000	Weak transcription	Stomach Smooth Muscle	stomach
19	chr12:104881000-104887000	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr12:104881000-104887200	Weak transcription	Adipose Nuclei	Adipose
21	chr12:104881000-104887800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr12:104881000-104887800	Weak transcription	HSMM	muscle
23	chr12:104881000-104889600	Weak transcription	Brain Hippocampus Middle	brain
24	chr12:104881200-104887000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr12:104881200-104890600	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr12:104881400-104887400	Weak transcription	Left Ventricle	heart
27	chr12:104881400-104890000	Weak transcription	Fetal Muscle Leg	muscle
28	chr12:104881600-104898600	Weak transcription	A549	lung
29	chr12:104882200-104887800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr12:104882600-104887000	Weak transcription	Brain Anterior Caudate	brain
31	chr12:104882600-104887000	Weak transcription	Duodenum Mucosa	Duodenum
32	chr12:104882600-104887000	Weak transcription	NHDF-Ad	bronchial
33	chr12:104882600-104887200	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr12:104882600-104888000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr12:104882600-104888800	Weak transcription	Fetal Lung	lung
36	chr12:104882600-104889800	Weak transcription	Fetal Heart	heart
37	chr12:104882600-104893200	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr12:104882600-104900600	Weak transcription	H9 Cell Line	embryonic stem cell
39	chr12:104882800-104887000	Weak transcription	Spleen	Spleen
40	chr12:104883200-104888000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr12:104883400-104887800	Enhancers	Primary T helper cells PMA-I stimulated	--
42	chr12:104883400-104887800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
43	chr12:104883600-104887800	Enhancers	Primary T helper cells fromperipheralblood	blood
44	chr12:104883600-104888000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
45	chr12:104883800-104887800	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr12:104883800-104888000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
47	chr12:104884200-104887000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr12:104884200-104890800	Weak transcription	Right Ventricle	heart
49	chr12:104884200-104898000	Weak transcription	Gastric	stomach
50	chr12:104884400-104886400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links