Variant report

Variant	rs59988848
Chromosome Location	chr14:103973171-103973172
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:103972759..103975327-chr14:103982430..103985193,2	K562	blood:

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10132290	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10133386	1.00[AMR][1000 genomes]
rs10135716	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10138651	1.00[AMR][1000 genomes]
rs10138842	1.00[AMR][1000 genomes]
rs10141919	1.00[AMR][1000 genomes]
rs10145990	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10146864	1.00[AMR][1000 genomes]
rs10147675	1.00[AMR][1000 genomes]
rs10148672	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10151314	1.00[AMR][1000 genomes]
rs11848774	0.80[AFR][1000 genomes]
rs11851727	1.00[AMR][1000 genomes]
rs13379294	1.00[AMR][1000 genomes]
rs13379421	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28631776	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35273920	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35586956	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56134485	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56305318	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59330484	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60236703	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61651942	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73353049	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73359944	1.00[AMR][1000 genomes]
rs73359947	1.00[AMR][1000 genomes]
rs8022746	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv534254	chr14:103470073-104023906	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription 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 target site	125 gene(s)	inside rSNPs	diseases
2	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
3	nsv832883	chr14:103927687-104120953	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
4	esv1835815	chr14:103942991-103989757	Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	29 gene(s)	inside rSNPs	diseases
5	nsv1044967	chr14:103954727-104007051	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
6	esv1807091	chr14:103956182-104020454	Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
7	esv1835824	chr14:103956182-104020454	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
8	nsv902297	chr14:103956182-104061646	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
9	nsv902298	chr14:103959289-104061646	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
10	esv1818859	chr14:103967299-103989757	Active TSS Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	28 gene(s)	inside rSNPs	diseases
11	esv1833254	chr14:103967299-103989757	Weak transcription Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	28 gene(s)	inside rSNPs	diseases
12	esv1835374	chr14:103967299-103989757	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	28 gene(s)	inside rSNPs	diseases
13	nsv902299	chr14:103967504-104061646	Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
14	nsv902300	chr14:103967504-104205811	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
15	esv1834605	chr14:103969909-104003091	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:103923200-103976800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr14:103927800-103979800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr14:103947600-103980000	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr14:103950400-103978800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr14:103950600-103979000	Strong transcription	Fetal Intestine Small	intestine
6	chr14:103951600-103976600	Strong transcription	HUES64 Cell Line	embryonic stem cell
7	chr14:103953800-103977200	Strong transcription	Rectal Mucosa Donor 29	rectum
8	chr14:103953800-103978800	Strong transcription	Duodenum Mucosa	Duodenum
9	chr14:103958200-103978200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr14:103958800-103980400	Strong transcription	Primary neutrophils fromperipheralblood	blood
11	chr14:103960000-103978000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr14:103962600-103978400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr14:103962600-103979000	Weak transcription	Right Atrium	heart
14	chr14:103963600-103978000	Strong transcription	Placenta	Placenta
15	chr14:103965200-103978600	Strong transcription	Thymus	Thymus
16	chr14:103965400-103973400	Strong transcription	Sigmoid Colon	Sigmoid Colon
17	chr14:103965400-103977600	Strong transcription	Primary T cells from cord blood	blood
18	chr14:103965400-103978600	Strong transcription	Fetal Intestine Large	intestine
19	chr14:103965800-103978200	Strong transcription	Left Ventricle	heart
20	chr14:103966000-103973200	Strong transcription	Spleen	Spleen
21	chr14:103966400-103978000	Strong transcription	NHEK	skin
22	chr14:103966800-103977000	Strong transcription	NH-A	brain
23	chr14:103967000-103974600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr14:103967000-103977200	Strong transcription	Duodenum Smooth Muscle	Duodenum
25	chr14:103967000-103977200	Strong transcription	HMEC	breast
26	chr14:103967000-103977200	Strong transcription	NHLF	lung
27	chr14:103967000-103978000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
28	chr14:103967000-103978800	Strong transcription	Fetal Muscle Leg	muscle
29	chr14:103967000-103979000	Strong transcription	Fetal Stomach	stomach
30	chr14:103967000-103980000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr14:103967000-103980600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr14:103967000-103981400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr14:103967200-103974000	Strong transcription	Brain Germinal Matrix	brain
34	chr14:103967200-103978000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr14:103967200-103978000	Strong transcription	Lung	lung
36	chr14:103967200-103978000	Strong transcription	Stomach Smooth Muscle	stomach
37	chr14:103967200-103978200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr14:103967200-103978600	Weak transcription	Fetal Heart	heart
39	chr14:103967400-103974000	Strong transcription	Primary T helper cells PMA-I stimulated	--
40	chr14:103967400-103974800	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr14:103967600-103977400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr14:103967600-103978400	Strong transcription	Right Ventricle	heart
43	chr14:103967600-103979000	Strong transcription	Fetal Muscle Trunk	muscle
44	chr14:103967800-103978800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr14:103967800-103979400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr14:103968000-103977400	Strong transcription	Cortex derived primary cultured neurospheres	brain
47	chr14:103968200-103977800	Strong transcription	Skeletal Muscle Female	skeletal muscle
48	chr14:103968800-103974400	Strong transcription	Osteobl	bone
49	chr14:103968800-103977400	Strong transcription	Fetal Brain Female	brain
50	chr14:103968800-103979000	Weak transcription	Psoas Muscle	Psoas

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