Variant report

Variant	rs11847514
Chromosome Location	chr14:70162097-70162098
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:70051891..70054400-chr14:70161480..70163976,2	K562	blood:
2	chr14:70155138..70156935-chr14:70161474..70163461,2	MCF-7	breast:
3	chr14:70121974..70124991-chr14:70161364..70163471,3	K562	blood:
4	chr14:70161404..70164443-chr14:70166782..70169020,3	MCF-7	breast:
5	chr14:70161886..70163932-chr14:70235857..70237554,2	K562	blood:
6	chr14:70136105..70138906-chr14:70160635..70163194,2	K562	blood:
7	chr14:70101968..70105684-chr14:70161055..70164607,3	K562	blood:
8	chr14:70127448..70130324-chr14:70160379..70163129,3	K562	blood:
9	chr14:70127448..70130324-chr14:70160379..70163129,2	K562	blood:
10	chr14:70160859..70163841-chr14:70176614..70179491,2	K562	blood:
11	chr14:70110323..70113249-chr14:70160948..70165525,4	K562	blood:
12	chr14:70116977..70119354-chr14:70161546..70163880,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000100650	Chromatin interaction

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

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

rs_ID	r²[population]
rs10047848	0.95[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10130124	1.00[EUR][1000 genomes]
rs10131362	0.95[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10137013	0.95[YRI][hapmap];1.00[EUR][1000 genomes]
rs10137162	1.00[EUR][1000 genomes]
rs10138453	1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10140437	0.86[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10144038	1.00[EUR][1000 genomes]
rs10146486	1.00[EUR][1000 genomes]
rs10148264	1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10148957	0.95[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10149936	1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10150246	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10151989	1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10220277	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1275744	0.82[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28435330	1.00[EUR][1000 genomes]
rs28445972	1.00[EUR][1000 genomes]
rs28524787	1.00[EUR][1000 genomes]
rs28538272	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28633309	1.00[EUR][1000 genomes]
rs28671429	1.00[EUR][1000 genomes]
rs28757382	1.00[EUR][1000 genomes]
rs28758769	0.95[YRI][hapmap];1.00[EUR][1000 genomes]
rs28879830	1.00[EUR][1000 genomes]
rs7154537	1.00[EUR][1000 genomes]
rs9805962	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049280	chr14:70036804-70172630	Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv542124	chr14:70036804-70172630	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv456336	chr14:70081956-70574149	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
4	nsv565007	chr14:70081956-70574149	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70156800-70164000	Enhancers	Fetal Muscle Leg	muscle
2	chr14:70157400-70164000	Enhancers	Adipose Nuclei	Adipose
3	chr14:70157600-70165600	Enhancers	Fetal Heart	heart
4	chr14:70157800-70164600	Enhancers	Psoas Muscle	Psoas
5	chr14:70158200-70165600	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr14:70158200-70166000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr14:70158400-70165600	Enhancers	Small Intestine	intestine
8	chr14:70158400-70167000	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr14:70158400-70170000	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr14:70158600-70164600	Enhancers	Spleen	Spleen
11	chr14:70158800-70163200	Enhancers	Duodenum Mucosa	Duodenum
12	chr14:70158800-70163400	Enhancers	Primary B cells from peripheral blood	blood
13	chr14:70158800-70163400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr14:70158800-70163600	Enhancers	Liver	Liver
15	chr14:70158800-70164000	Enhancers	Brain Inferior Temporal Lobe	brain
16	chr14:70158800-70164000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
17	chr14:70158800-70164600	Enhancers	Brain Anterior Caudate	brain
18	chr14:70158800-70164600	Enhancers	Brain Cingulate Gyrus	brain
19	chr14:70158800-70164600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr14:70158800-70164600	Enhancers	Fetal Intestine Large	intestine
21	chr14:70158800-70164800	Enhancers	Fetal Intestine Small	intestine
22	chr14:70158800-70165600	Enhancers	Sigmoid Colon	Sigmoid Colon
23	chr14:70159200-70164000	Enhancers	Brain Angular Gyrus	brain
24	chr14:70159200-70164200	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr14:70159200-70164600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr14:70159200-70164600	Enhancers	Duodenum Smooth Muscle	Duodenum
27	chr14:70159200-70165800	Enhancers	Left Ventricle	heart
28	chr14:70159400-70163000	Enhancers	Lung	lung
29	chr14:70159400-70163600	Enhancers	Right Atrium	heart
30	chr14:70159400-70164000	Enhancers	Colonic Mucosa	Colon
31	chr14:70159400-70164200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
32	chr14:70159400-70164200	Enhancers	Primary T helper cells fromperipheralblood	blood
33	chr14:70159400-70164200	Enhancers	Colon Smooth Muscle	Colon
34	chr14:70159400-70164200	Enhancers	Fetal Thymus	thymus
35	chr14:70159400-70164200	Enhancers	Ovary	ovary
36	chr14:70159400-70164600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
37	chr14:70159400-70165600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr14:70159400-70170200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
39	chr14:70159600-70163400	Enhancers	Fetal Lung	lung
40	chr14:70159600-70163800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr14:70159600-70164000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr14:70159600-70164600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr14:70159600-70164600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr14:70159600-70164600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
45	chr14:70159600-70164600	Enhancers	Primary T killer memory cells from peripheral blood	blood
46	chr14:70159600-70164600	Enhancers	Pancreas	Pancrea
47	chr14:70159800-70162200	Weak transcription	HUES48 Cell Line	embryonic stem cell
48	chr14:70159800-70164200	Enhancers	Primary T cells from cord blood	blood
49	chr14:70159800-70164200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
50	chr14:70159800-70164200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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