Variant report

Variant	rs17091112
Chromosome Location	chr14:56663145-56663146
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:56662437..56665407-chr14:56673840..56677281,3	K562	blood:
2	chr14:56655614..56658400-chr14:56661166..56663335,2	K562	blood:
3	chr14:56660081..56671301-chr14:56679407..56688474,29	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10152004	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs1152464	0.82[JPT][hapmap]
rs1152466	0.82[CHB][hapmap];0.82[JPT][hapmap]
rs1152478	0.81[CHB][hapmap];0.81[JPT][hapmap]
rs12589933	1.00[CEU][hapmap];0.92[CHB][hapmap];0.92[JPT][hapmap];0.83[EUR][1000 genomes]
rs1382974	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap]
rs1382977	0.81[JPT][hapmap]
rs17091062	1.00[CEU][hapmap];0.92[JPT][hapmap];0.90[EUR][1000 genomes]
rs17091123	0.84[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs17091196	1.00[CEU][hapmap];0.83[JPT][hapmap]
rs2228708	1.00[CEU][hapmap];0.84[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2297610	1.00[CEU][hapmap];0.84[CHB][hapmap]
rs242581	0.92[JPT][hapmap]
rs3783659	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs385141	0.84[CHB][hapmap];0.91[JPT][hapmap]
rs3898605	1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs4636823	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.90[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4901649	0.94[YRI][hapmap];0.81[AFR][1000 genomes]
rs58116791	0.81[ASN][1000 genomes]
rs6573085	1.00[CEU][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs7141484	1.00[CEU][hapmap];0.84[CHB][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs7141889	0.86[ASN][1000 genomes]
rs7141949	1.00[CEU][hapmap];0.85[CHB][hapmap];0.92[JPT][hapmap];0.83[ASN][1000 genomes]
rs7143560	0.84[CHB][hapmap];1.00[JPT][hapmap]
rs7152487	1.00[JPT][hapmap]
rs7161103	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs7161274	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs754314	1.00[CEU][hapmap];0.91[JPT][hapmap]
rs8011852	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap]
rs8014574	0.84[CHB][hapmap];0.91[JPT][hapmap]

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	nsv533129	chr14:56568535-56819234	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv1844788	chr14:56594420-56771207	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:56648200-56665400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr14:56649800-56674600	Weak transcription	Aorta	Aorta
3	chr14:56656400-56664000	Weak transcription	Ovary	ovary
4	chr14:56656800-56672200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr14:56660000-56666000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr14:56660000-56666600	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr14:56660200-56663400	Flanking Active TSS	Dnd41	blood
8	chr14:56660400-56663400	Enhancers	Colon Smooth Muscle	Colon
9	chr14:56660400-56665400	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr14:56660600-56663200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr14:56660600-56663400	Enhancers	Primary B cells from peripheral blood	blood
12	chr14:56660600-56664200	Enhancers	Primary hematopoietic stem cells	blood
13	chr14:56660800-56663200	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr14:56660800-56663200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr14:56660800-56663600	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr14:56661000-56663200	Enhancers	Primary T killer memory cells from peripheral blood	blood
17	chr14:56661000-56663600	Enhancers	Primary B cells from cord blood	blood
18	chr14:56661200-56663200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr14:56661600-56663600	Enhancers	Pancreatic Islets	Pancreatic Islet
20	chr14:56661800-56663200	Enhancers	Rectal Mucosa Donor 31	rectum
21	chr14:56661800-56663200	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr14:56661800-56663400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr14:56661800-56663400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr14:56661800-56663400	Enhancers	Brain Hippocampus Middle	brain
25	chr14:56662000-56663200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr14:56662000-56663200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
27	chr14:56662000-56663200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chr14:56662000-56663200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr14:56662000-56663200	Enhancers	GM12878-XiMat	blood
30	chr14:56662000-56663200	Enhancers	HSMM	muscle
31	chr14:56662000-56663400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr14:56662000-56663400	Enhancers	Fetal Kidney	kidney
33	chr14:56662000-56663400	Enhancers	Rectal Smooth Muscle	rectum
34	chr14:56662000-56663600	Enhancers	NH-A	brain
35	chr14:56662000-56664000	Enhancers	Muscle Satellite Cultured Cells	--
36	chr14:56662200-56663200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr14:56662200-56663200	Enhancers	Fetal Intestine Small	intestine
38	chr14:56662400-56663200	Enhancers	Primary T regulatory cells fromperipheralblood	blood
39	chr14:56662400-56663200	Enhancers	K562	blood
40	chr14:56662400-56663600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr14:56662400-56663600	Enhancers	Brain Germinal Matrix	brain
42	chr14:56662400-56664000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr14:56662400-56665400	Enhancers	A549	lung
44	chr14:56662400-56667200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr14:56662400-56667200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
46	chr14:56662600-56663200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr14:56662600-56663200	Enhancers	Fetal Lung	lung
48	chr14:56662600-56663200	Enhancers	Hela-S3	cervix
49	chr14:56662600-56663400	Enhancers	Primary T cells from cord blood	blood
50	chr14:56662600-56663600	Enhancers	Osteobl	bone

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