Variant report

Variant	rs17191694
Chromosome Location	chr14:68132774-68132775
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:68132675..68135592-chr14:68137064..68139756,3	K562	blood:
2	chr14:68130808..68132447-chr14:68132616..68134270,2	MCF-7	breast:
3	chr14:68087309..68089150-chr14:68130477..68132954,2	K562	blood:
4	chr14:68132291..68135760-chr14:68139732..68142533,5	K562	blood:

Variant related genes	Relation type
ENSG00000100568	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11621258	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs12589622	1.00[LWK][hapmap]
rs12589836	1.00[LWK][hapmap]
rs17249049	1.00[LWK][hapmap]
rs17249111	1.00[LWK][hapmap]
rs17782224	1.00[YRI][hapmap]
rs2145467	1.00[YRI][hapmap]
rs3742879	1.00[ASW][hapmap];1.00[YRI][hapmap]

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	nsv902068	chr14:68083133-68204876	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17191694	EXD2	cis	cerebellum	SCAN

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68109000-68133200	Weak transcription	Stomach Mucosa	stomach
2	chr14:68111000-68135200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr14:68115600-68135200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr14:68117000-68139400	Weak transcription	Psoas Muscle	Psoas
5	chr14:68119400-68140400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr14:68120800-68135400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr14:68123800-68132800	Weak transcription	NHLF	lung
8	chr14:68123800-68139400	Weak transcription	Fetal Brain Male	brain
9	chr14:68124000-68133200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr14:68124000-68133800	Weak transcription	Fetal Kidney	kidney
11	chr14:68124000-68136400	Weak transcription	Pancreas	Pancrea
12	chr14:68124000-68139600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr14:68124000-68140200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
14	chr14:68124000-68140200	Weak transcription	Right Ventricle	heart
15	chr14:68124200-68133400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr14:68124200-68133400	Weak transcription	Rectal Smooth Muscle	rectum
17	chr14:68124200-68139400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr14:68124400-68132800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr14:68124400-68133400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr14:68124400-68133600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr14:68124400-68133800	Weak transcription	Brain Cingulate Gyrus	brain
22	chr14:68124400-68135400	Weak transcription	Brain Germinal Matrix	brain
23	chr14:68124400-68136600	Weak transcription	Gastric	stomach
24	chr14:68124400-68138000	Weak transcription	Ovary	ovary
25	chr14:68124400-68139400	Weak transcription	Aorta	Aorta
26	chr14:68124400-68139400	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr14:68124400-68139400	Weak transcription	Spleen	Spleen
28	chr14:68124400-68139600	Weak transcription	Colonic Mucosa	Colon
29	chr14:68124400-68140400	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr14:68124400-68140800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr14:68124600-68132800	Weak transcription	K562	blood
32	chr14:68124800-68138400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr14:68124800-68139200	Weak transcription	Lung	lung
34	chr14:68125000-68133400	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr14:68125000-68139600	Weak transcription	HUVEC	blood vessel
36	chr14:68125800-68132800	Weak transcription	Colon Smooth Muscle	Colon
37	chr14:68125800-68138400	Weak transcription	Skeletal Muscle Male	skeletal muscle
38	chr14:68125800-68140200	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr14:68126000-68132800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr14:68126000-68139400	Weak transcription	Fetal Brain Female	brain
41	chr14:68126600-68133200	Weak transcription	Primary neutrophils fromperipheralblood	blood
42	chr14:68126600-68139400	Weak transcription	Fetal Lung	lung
43	chr14:68126600-68139400	Weak transcription	Hela-S3	cervix
44	chr14:68126600-68140000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr14:68126800-68133200	Weak transcription	Thymus	Thymus
46	chr14:68126800-68133400	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr14:68126800-68133600	Weak transcription	Skeletal Muscle Female	skeletal muscle
48	chr14:68126800-68135200	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr14:68126800-68135200	Weak transcription	Brain Substantia Nigra	brain
50	chr14:68126800-68135400	Weak transcription	HUES48 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links