Variant report

Variant	rs11847920
Chromosome Location	chr14:105850045-105850046
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EGR1	chr14:105849650-105850121	H1-hESC	embryonic stem cell:	n/a	n/a
2	FOSL1	chr14:105849697-105850100	H1-hESC	embryonic stem cell:	n/a	n/a
3	EGR1	chr14:105849610-105850159	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:105849372..105852249-chr14:105863098..105866090,2	K562	blood:

Variant related genes	Relation type
PACS2	TF binding region
ENSG00000226174	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10131650	0.82[AFR][1000 genomes]
rs10132193	1.00[AMR][1000 genomes]
rs10133343	0.82[ASW][hapmap];0.88[LWK][hapmap];0.85[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10133666	1.00[AMR][1000 genomes]
rs10134069	0.95[YRI][hapmap];0.82[AFR][1000 genomes]
rs10136894	1.00[AMR][1000 genomes]
rs10137499	1.00[AMR][1000 genomes]
rs10142763	1.00[AMR][1000 genomes]
rs10148890	0.91[YRI][hapmap]
rs10150076	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10151345	1.00[AMR][1000 genomes]
rs10152000	1.00[AMR][1000 genomes]
rs11847153	0.80[YRI][hapmap]
rs11850681	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11850746	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28406946	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28419155	1.00[AMR][1000 genomes]
rs28451686	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28482150	1.00[AMR][1000 genomes]
rs28507499	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28537945	1.00[AMR][1000 genomes]
rs28539444	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28545230	1.00[AMR][1000 genomes]
rs28547922	1.00[AMR][1000 genomes]
rs28588179	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28649056	0.80[YRI][hapmap]
rs28665678	1.00[AMR][1000 genomes]
rs28678078	1.00[AMR][1000 genomes]
rs28678492	1.00[AMR][1000 genomes]
rs28710336	0.82[ASW][hapmap];1.00[AMR][1000 genomes]
rs28733380	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4073351	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4073352	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56734561	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61326617	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7146660	0.80[YRI][hapmap]
rs7158718	0.87[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73361045	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8009536	1.00[AMR][1000 genomes]
rs8009750	1.00[AMR][1000 genomes]
rs9671246	0.82[ASW][hapmap];0.86[LWK][hapmap];0.95[YRI][hapmap];0.85[AFR][1000 genomes]
rs9743768	1.00[AMR][1000 genomes]
rs9989145	1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530813	chr14:105607701-106453697	Strong transcription Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	149 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:105823600-105863400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr14:105831000-105863800	Weak transcription	Fetal Kidney	kidney
3	chr14:105831400-105864000	Weak transcription	Osteobl	bone
4	chr14:105831600-105850600	Weak transcription	Fetal Heart	heart
5	chr14:105831600-105855200	Strong transcription	Fetal Stomach	stomach
6	chr14:105831600-105863200	Weak transcription	NHDF-Ad	bronchial
7	chr14:105837800-105855200	Weak transcription	HSMM	muscle
8	chr14:105842200-105852600	Weak transcription	NHEK	skin
9	chr14:105842600-105856000	Weak transcription	Primary B cells from peripheral blood	blood
10	chr14:105842800-105851200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr14:105842800-105854600	Weak transcription	Primary B cells from cord blood	blood
12	chr14:105842800-105855200	Weak transcription	Primary hematopoietic stem cells	blood
13	chr14:105842800-105855800	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr14:105842800-105856400	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr14:105842800-105856400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr14:105843200-105854200	Strong transcription	Brain Hippocampus Middle	brain
17	chr14:105843600-105850200	Strong transcription	Fetal Muscle Trunk	muscle
18	chr14:105844000-105855200	Strong transcription	Brain Cingulate Gyrus	brain
19	chr14:105844400-105854400	Strong transcription	Stomach Smooth Muscle	stomach
20	chr14:105844400-105856200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr14:105844400-105862400	Strong transcription	Brain Germinal Matrix	brain
22	chr14:105844400-105862800	Strong transcription	Fetal Intestine Small	intestine
23	chr14:105844600-105850400	Strong transcription	Fetal Muscle Leg	muscle
24	chr14:105844600-105854200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr14:105844800-105857000	Weak transcription	Stomach Mucosa	stomach
26	chr14:105845000-105852000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr14:105845000-105854200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr14:105845200-105855000	Strong transcription	Spleen	Spleen
29	chr14:105845200-105857200	Strong transcription	Right Ventricle	heart
30	chr14:105845200-105862600	Strong transcription	Fetal Brain Female	brain
31	chr14:105845400-105851600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
32	chr14:105845400-105853800	Strong transcription	Skeletal Muscle Male	skeletal muscle
33	chr14:105845400-105854000	Strong transcription	Brain Substantia Nigra	brain
34	chr14:105845400-105855800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr14:105845600-105850400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr14:105845600-105852400	Strong transcription	Adipose Nuclei	Adipose
37	chr14:105845600-105854800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr14:105845600-105854800	Strong transcription	Gastric	stomach
39	chr14:105845600-105855600	Strong transcription	Brain Inferior Temporal Lobe	brain
40	chr14:105845600-105860800	Strong transcription	Cortex derived primary cultured neurospheres	brain
41	chr14:105845800-105850800	Strong transcription	Placenta	Placenta
42	chr14:105845800-105855400	Strong transcription	Fetal Intestine Large	intestine
43	chr14:105845800-105855600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr14:105845800-105855600	Strong transcription	Lung	lung
45	chr14:105846000-105852600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr14:105846000-105852800	Strong transcription	Sigmoid Colon	Sigmoid Colon
47	chr14:105846000-105854200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr14:105846000-105854400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr14:105846000-105854600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr14:105846000-105855200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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