Variant report

Variant	rs17128033
Chromosome Location	chr14:55332799-55332800
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10132356	1.00[AMR][1000 genomes]
rs10133661	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs10134429	0.91[ASW][hapmap];0.89[LWK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs10134647	1.00[AMR][1000 genomes]
rs10137504	1.00[AMR][1000 genomes]
rs10137881	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10144581	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10144972	1.00[ASW][hapmap];0.90[MKK][hapmap]
rs10145816	1.00[AMR][1000 genomes]
rs10149080	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs10149945	1.00[AMR][1000 genomes]
rs10150556	1.00[AMR][1000 genomes]
rs10220342	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11844799	1.00[AMR][1000 genomes]
rs2183083	0.98[AFR][1000 genomes]
rs28491418	1.00[AMR][1000 genomes]
rs28513529	0.84[LWK][hapmap]
rs28643468	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28662314	1.00[AMR][1000 genomes]
rs28706216	1.00[AMR][1000 genomes]
rs28719471	1.00[AMR][1000 genomes]
rs9323273	1.00[AMR][1000 genomes]
rs9323274	1.00[AMR][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	nsv530042	chr14:55208170-55386966	Enhancers Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv932970	chr14:55326559-55532749	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55303400-55337000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chr14:55305200-55337200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr14:55306200-55337000	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr14:55306400-55336800	Weak transcription	Dnd41	blood
5	chr14:55306600-55336600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr14:55306800-55337000	Weak transcription	Brain Anterior Caudate	brain
7	chr14:55308000-55336600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
8	chr14:55311800-55337000	Weak transcription	Fetal Intestine Large	intestine
9	chr14:55321000-55337000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr14:55321200-55337000	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr14:55324400-55334000	Weak transcription	Fetal Muscle Trunk	muscle
12	chr14:55324800-55337000	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr14:55325000-55337200	Weak transcription	Adipose Nuclei	Adipose
14	chr14:55325200-55333200	Weak transcription	Fetal Stomach	stomach
15	chr14:55326200-55333400	Weak transcription	GM12878-XiMat	blood
16	chr14:55326200-55336400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr14:55326400-55333200	Weak transcription	Lung	lung
18	chr14:55326400-55333200	Weak transcription	Spleen	Spleen
19	chr14:55326600-55336600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
20	chr14:55327000-55336000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr14:55327000-55336400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr14:55327000-55338200	Weak transcription	Primary B cells from peripheral blood	blood
23	chr14:55327200-55336600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr14:55327200-55336600	Weak transcription	Duodenum Mucosa	Duodenum
25	chr14:55329400-55337000	Weak transcription	Fetal Intestine Small	intestine
26	chr14:55329400-55347800	Weak transcription	Primary B cells from cord blood	blood
27	chr14:55329600-55337200	Weak transcription	Stomach Mucosa	stomach
28	chr14:55330600-55333400	Weak transcription	Primary T cells from cord blood	blood
29	chr14:55330800-55337200	Weak transcription	Aorta	Aorta
30	chr14:55330800-55347800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr14:55331200-55333600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr14:55331200-55333600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr14:55331200-55333800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr14:55331400-55336600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr14:55331400-55336600	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr14:55331400-55337000	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr14:55331600-55333000	Weak transcription	HepG2	liver
38	chr14:55331600-55333200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr14:55331600-55333400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr14:55331600-55336200	Weak transcription	Hela-S3	cervix
41	chr14:55331600-55336400	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr14:55331600-55337200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr14:55331800-55333000	Weak transcription	HUVEC	blood vessel
44	chr14:55331800-55333400	Weak transcription	HSMMtube	muscle
45	chr14:55331800-55334200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr14:55331800-55344800	Weak transcription	Monocytes-CD14+_RO01746	blood
47	chr14:55331800-55347600	Weak transcription	Primary monocytes fromperipheralblood	blood
48	chr14:55332000-55333400	Enhancers	Liver	Liver
49	chr14:55332200-55332800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr14:55332400-55333800	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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