Variant report

Variant	rs59660692
Chromosome Location	chr14:31035686-31035687
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:31030641..31032270-chr14:31034025..31036137,2	K562	blood:
2	chr14:31028399..31029977-chr14:31035477..31038454,2	K562	blood:
3	chr14:31027621..31029977-chr14:31035230..31036977,2	K562	blood:

Variant related genes	Relation type
ENSG00000092140	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs17091494	1.00[AMR][1000 genomes]
rs17096939	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17096960	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17097001	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17097006	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17097097	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17097128	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs17097173	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57373297	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57482448	1.00[AMR][1000 genomes]
rs58678418	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73251159	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73251163	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73251178	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73253023	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73254547	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73255984	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73264322	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73264350	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv564169	chr14:30819087-31541494	Strong transcription Genic enhancers ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1036419	chr14:30969616-31224226	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv901581	chr14:30978745-31585289	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31029000-31071800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr14:31029200-31042200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr14:31029200-31071800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr14:31029400-31059400	Weak transcription	Left Ventricle	heart
5	chr14:31029400-31060400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr14:31029800-31038800	Weak transcription	Adipose Nuclei	Adipose
7	chr14:31029800-31054000	Weak transcription	Fetal Intestine Large	intestine
8	chr14:31030000-31038400	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr14:31030200-31038400	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr14:31030200-31039000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr14:31030200-31039000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr14:31030200-31053200	Weak transcription	Fetal Muscle Leg	muscle
13	chr14:31030400-31035800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr14:31030400-31037600	Weak transcription	Fetal Kidney	kidney
15	chr14:31030400-31041600	Weak transcription	Brain Anterior Caudate	brain
16	chr14:31030400-31042600	Weak transcription	Ovary	ovary
17	chr14:31030400-31042800	Weak transcription	Primary B cells from cord blood	blood
18	chr14:31030400-31044600	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr14:31030400-31046600	Weak transcription	Primary hematopoietic stem cells	blood
20	chr14:31030400-31050600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
21	chr14:31030400-31050600	Weak transcription	Rectal Mucosa Donor 29	rectum
22	chr14:31030400-31056600	Weak transcription	Duodenum Mucosa	Duodenum
23	chr14:31030400-31059200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr14:31030600-31038600	Weak transcription	Primary T cells from cord blood	blood
25	chr14:31030600-31042400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr14:31030600-31046600	Weak transcription	NH-A	brain
27	chr14:31030800-31038400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr14:31030800-31039200	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr14:31030800-31046600	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr14:31031000-31036200	Weak transcription	Fetal Brain Female	brain
31	chr14:31031000-31038600	Weak transcription	NHLF	lung
32	chr14:31031000-31038800	Weak transcription	NHDF-Ad	bronchial
33	chr14:31031000-31039200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr14:31031000-31039200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr14:31031000-31039200	Weak transcription	Muscle Satellite Cultured Cells	--
36	chr14:31031000-31039200	Weak transcription	Hela-S3	cervix
37	chr14:31031000-31041600	Weak transcription	HUVEC	blood vessel
38	chr14:31031000-31042600	Weak transcription	Primary B cells from peripheral blood	blood
39	chr14:31031000-31052000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr14:31031200-31038600	Weak transcription	HMEC	breast
41	chr14:31031200-31039200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr14:31031200-31042000	Weak transcription	NHEK	skin
43	chr14:31032000-31038400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
44	chr14:31032000-31067400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr14:31032200-31036200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr14:31032200-31042200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr14:31032200-31046600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr14:31032200-31056400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr14:31032400-31049400	Weak transcription	Primary T cells fromperipheralblood	blood
50	chr14:31032400-31067200	Weak transcription	Fetal Stomach	stomach

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