Variant report

Variant	rs17019092
Chromosome Location	chr2:36790983-36790984
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:36789391-36792317	HUVEC	blood vessel:	n/a	n/a
2	POLR2A	chr2:36790059-36793180	IMR90	lung:	n/a	n/a
3	POLR2A	chr2:36790119-36793066	HepG2	liver:	n/a	n/a
4	POLR2A	chr2:36790066-36792283	HUVEC	blood vessel:	n/a	n/a
5	POLR2A	chr2:36789949-36793343	HUVEC	blood vessel:	n/a	n/a
6	POLR2A	chr2:36790350-36791183	HUVEC	blood vessel:	n/a	n/a
7	POLR2A	chr2:36790098-36793260	A549	lung:	n/a	n/a
8	POLR2A	chr2:36789950-36791426	HUVEC	blood vessel:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:36788852..36791258-chr2:36824096..36825627,2	K562	blood:
2	chr2:36789668..36791996-chr2:37007136..37008825,2	K562	blood:

Variant related genes	Relation type
FEZ2	TF binding region
ENSG00000171055	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17018960	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17019010	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17019167	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010985	chr2:36707157-36942066	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv535642	chr2:36707157-36942066	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:36751000-36824200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:36764800-36791800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:36766000-36791800	Weak transcription	Esophagus	oesophagus
4	chr2:36771400-36802800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr2:36773000-36811200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
6	chr2:36776600-36792600	Weak transcription	Right Ventricle	heart
7	chr2:36776600-36804800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr2:36776600-36804800	Weak transcription	Fetal Brain Female	brain
9	chr2:36777400-36795000	Weak transcription	Fetal Heart	heart
10	chr2:36779200-36791600	Weak transcription	Fetal Intestine Small	intestine
11	chr2:36779400-36805000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr2:36780000-36804800	Weak transcription	Brain Germinal Matrix	brain
13	chr2:36781400-36791800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr2:36782000-36792400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr2:36782000-36805400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr2:36782600-36798400	Weak transcription	Gastric	stomach
17	chr2:36782800-36791800	Weak transcription	Colonic Mucosa	Colon
18	chr2:36782800-36799600	Weak transcription	Rectal Smooth Muscle	rectum
19	chr2:36783000-36800600	Weak transcription	Primary T helper cells PMA-I stimulated	--
20	chr2:36783200-36805000	Weak transcription	K562	blood
21	chr2:36783400-36805000	Weak transcription	GM12878-XiMat	blood
22	chr2:36783600-36792600	Weak transcription	Dnd41	blood
23	chr2:36783800-36794200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr2:36784800-36799200	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr2:36785200-36800600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr2:36786400-36792200	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr2:36786400-36794200	Strong transcription	Primary T cells from cord blood	blood
28	chr2:36786400-36794800	Strong transcription	Primary B cells from cord blood	blood
29	chr2:36786600-36792000	Enhancers	Placenta Amnion	Placenta Amnion
30	chr2:36786600-36793200	Genic enhancers	Skeletal Muscle Female	skeletal muscle
31	chr2:36787000-36791000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr2:36787200-36791000	Weak transcription	Fetal Muscle Leg	muscle
33	chr2:36787200-36797600	Weak transcription	Fetal Lung	lung
34	chr2:36787400-36791600	Enhancers	Placenta	Placenta
35	chr2:36787800-36791200	Enhancers	HSMMtube	muscle
36	chr2:36788000-36791600	Enhancers	Brain Anterior Caudate	brain
37	chr2:36788000-36791600	Weak transcription	Fetal Muscle Trunk	muscle
38	chr2:36788000-36791800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr2:36788000-36792200	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr2:36788200-36791600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr2:36788200-36791800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr2:36788400-36791200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr2:36788400-36791200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr2:36788400-36791400	Enhancers	iPS-20b Cell Line	embryonic stem cell
45	chr2:36788400-36791800	Enhancers	Skeletal Muscle Male	skeletal muscle
46	chr2:36788400-36792600	Enhancers	Primary monocytes fromperipheralblood	blood
47	chr2:36788600-36805200	Weak transcription	Left Ventricle	heart
48	chr2:36788800-36791400	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr2:36788800-36791600	Enhancers	Brain Cingulate Gyrus	brain
50	chr2:36788800-36792000	Enhancers	Primary neutrophils fromperipheralblood	blood

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