Variant report

Variant	rs3784150
Chromosome Location	chr14:70155082-70155083
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10144825	0.91[EUR][1000 genomes]
rs10747300	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs17107137	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17107174	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2184598	1.00[CEU][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes]
rs3784148	1.00[CEU][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3784151	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3809394	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3809396	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4899302	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs4899306	1.00[CEU][hapmap]
rs4902735	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs4902736	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs60897990	0.91[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:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70146800-70155600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
2	chr14:70148400-70156800	Enhancers	HepG2	liver
3	chr14:70148600-70155800	Enhancers	Fetal Thymus	thymus
4	chr14:70148800-70156600	Enhancers	Brain Inferior Temporal Lobe	brain
5	chr14:70149200-70156200	Enhancers	Brain Hippocampus Middle	brain
6	chr14:70150200-70161000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr14:70150800-70159800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr14:70151000-70155200	Weak transcription	Primary hematopoietic stem cells	blood
9	chr14:70151600-70155800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr14:70151600-70157800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr14:70152000-70155200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
12	chr14:70152200-70155200	Weak transcription	Primary monocytes fromperipheralblood	blood
13	chr14:70152200-70155200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr14:70152200-70156200	Enhancers	Brain Germinal Matrix	brain
15	chr14:70152200-70159800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr14:70152400-70156600	Weak transcription	Primary T cells from cord blood	blood
17	chr14:70152400-70156600	Weak transcription	Placenta	Placenta
18	chr14:70152400-70159600	Weak transcription	Aorta	Aorta
19	chr14:70152400-70159800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr14:70152600-70159400	Weak transcription	Colonic Mucosa	Colon
21	chr14:70152600-70159800	Weak transcription	NHLF	lung
22	chr14:70152800-70155200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr14:70152800-70155200	Weak transcription	Right Atrium	heart
24	chr14:70152800-70156400	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr14:70152800-70156400	Weak transcription	Fetal Stomach	stomach
26	chr14:70152800-70156800	Weak transcription	Spleen	Spleen
27	chr14:70152800-70158000	Weak transcription	Gastric	stomach
28	chr14:70152800-70158800	Weak transcription	Duodenum Mucosa	Duodenum
29	chr14:70152800-70158800	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr14:70152800-70159400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr14:70152800-70159600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr14:70152800-70159600	Weak transcription	Pancreas	Pancrea
33	chr14:70153000-70158800	Weak transcription	Liver	Liver
34	chr14:70153000-70158800	Weak transcription	Fetal Intestine Large	intestine
35	chr14:70153000-70158800	Weak transcription	Rectal Mucosa Donor 31	rectum
36	chr14:70153200-70157000	Weak transcription	Fetal Intestine Small	intestine
37	chr14:70153200-70159400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr14:70153400-70157200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr14:70153400-70157600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr14:70153400-70158800	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr14:70153400-70159200	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr14:70153400-70159400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr14:70153400-70159400	Weak transcription	Stomach Smooth Muscle	stomach
44	chr14:70153400-70159600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr14:70153600-70156600	Weak transcription	Primary T cells fromperipheralblood	blood
46	chr14:70153600-70156800	Weak transcription	Rectal Smooth Muscle	rectum
47	chr14:70153600-70158400	Weak transcription	Small Intestine	intestine
48	chr14:70153600-70159800	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr14:70153600-70160400	Weak transcription	NHEK	skin
50	chr14:70153800-70160600	Weak transcription	HMEC	breast

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