Variant report

Variant	rs8006755
Chromosome Location	chr14:104260651-104260652
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:104255036..104256821-chr14:104260107..104262867,2	K562	blood:

Extended variants
information (count: 31 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11845983	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11847312	1.00[AMR][1000 genomes]
rs11848174	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35905888	1.00[AMR][1000 genomes]
rs56064032	1.00[EUR][1000 genomes]
rs56726433	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58899741	1.00[EUR][1000 genomes]
rs61668766	1.00[AMR][1000 genomes]
rs6576001	1.00[EUR][1000 genomes]
rs7146691	1.00[AMR][1000 genomes]
rs73350554	1.00[EUR][1000 genomes]
rs73350559	1.00[EUR][1000 genomes]
rs73350560	1.00[EUR][1000 genomes]
rs73350561	1.00[EUR][1000 genomes]
rs73350562	1.00[EUR][1000 genomes]
rs73350566	1.00[EUR][1000 genomes]
rs74086586	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74086597	1.00[EUR][1000 genomes]
rs74088714	1.00[EUR][1000 genomes]
rs8007670	1.00[AMR][1000 genomes]
rs8011745	1.00[EUR][1000 genomes]
rs8018770	1.00[EUR][1000 genomes]
rs8020907	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3332028	chr14:103581471-104328811	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS 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	162 gene(s)	inside rSNPs	diseases
2	nsv1045162	chr14:104140525-104594841	Flanking Active TSS Strong transcription Bivalent Enhancer Enhancers Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
3	nsv542204	chr14:104140525-104594841	Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
4	esv2758368	chr14:104147525-104412813	Active TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
5	esv2760013	chr14:104147525-104412813	Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
6	nsv902313	chr14:104162263-104378087	Bivalent Enhancer Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
7	nsv902318	chr14:104255083-104464809	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
8	nsv902319	chr14:104255083-104620077	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	64 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:104196000-104268000	Weak transcription	Small Intestine	intestine
2	chr14:104201000-104267600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr14:104203200-104267800	Weak transcription	Psoas Muscle	Psoas
4	chr14:104209400-104264800	Weak transcription	Brain Substantia Nigra	brain
5	chr14:104211800-104265000	Weak transcription	Hela-S3	cervix
6	chr14:104215400-104263800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
7	chr14:104215400-104273200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr14:104216000-104267600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr14:104216200-104264400	Weak transcription	Brain Hippocampus Middle	brain
10	chr14:104216200-104264600	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr14:104216200-104267800	Weak transcription	Brain Cingulate Gyrus	brain
12	chr14:104216200-104268800	Weak transcription	Brain Angular Gyrus	brain
13	chr14:104216800-104261400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr14:104218400-104277800	Weak transcription	Spleen	Spleen
15	chr14:104218800-104270200	Weak transcription	Ovary	ovary
16	chr14:104228600-104265000	Weak transcription	Fetal Kidney	kidney
17	chr14:104228800-104263200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr14:104228800-104270200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
19	chr14:104229200-104267800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr14:104230600-104271600	Weak transcription	Esophagus	oesophagus
21	chr14:104232000-104264000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr14:104234000-104263200	Weak transcription	Fetal Muscle Leg	muscle
23	chr14:104236800-104272800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr14:104238800-104264400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr14:104238800-104270400	Weak transcription	HUVEC	blood vessel
26	chr14:104239000-104267600	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr14:104239000-104272400	Weak transcription	Primary B cells from peripheral blood	blood
28	chr14:104240800-104268000	Weak transcription	Fetal Heart	heart
29	chr14:104241000-104274400	Weak transcription	Colon Smooth Muscle	Colon
30	chr14:104243000-104263400	Weak transcription	Primary T cells from cord blood	blood
31	chr14:104245200-104271400	Weak transcription	Right Ventricle	heart
32	chr14:104245400-104263600	Weak transcription	Colonic Mucosa	Colon
33	chr14:104248200-104262000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
34	chr14:104249400-104262000	Weak transcription	Aorta	Aorta
35	chr14:104249600-104267600	Weak transcription	Adipose Nuclei	Adipose
36	chr14:104250200-104267800	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr14:104250400-104267800	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr14:104250800-104261000	Weak transcription	Lung	lung
39	chr14:104250800-104261800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
40	chr14:104251200-104261400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr14:104251200-104262400	Weak transcription	Stomach Smooth Muscle	stomach
42	chr14:104251200-104262800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr14:104251600-104261400	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr14:104251600-104265000	Weak transcription	Primary T helper cells PMA-I stimulated	--
45	chr14:104254800-104262000	Strong transcription	Left Ventricle	heart
46	chr14:104254800-104264200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr14:104255200-104267600	Weak transcription	HMEC	breast
48	chr14:104255400-104263600	Weak transcription	Brain Anterior Caudate	brain
49	chr14:104255600-104261000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr14:104257200-104262400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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