Variant report

Variant	rs4982225
Chromosome Location	chr14:35313967-35313968
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:35310239..35314325-chr14:35340796..35344986,8	MCF-7	breast:
2	chr14:35310484..35315541-chr14:35341782..35344711,6	MCF-7	breast:
3	chr14:35311937..35314117-chr14:35804578..35807465,2	MCF-7	breast:
4	chr14:35308103..35311093-chr14:35312889..35314480,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000198604	Chromatin interaction
ENSG00000258738	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1200395	0.90[ASN][1000 genomes]
rs12434654	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12437059	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17102754	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17102817	0.95[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs17102823	0.87[AMR][1000 genomes]
rs1953431	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4270078	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs45547237	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4981249	0.85[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4981254	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4982227	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs5005325	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7143293	0.97[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs761924	0.84[ASN][1000 genomes]
rs8010444	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3392700	chr14:34989406-35365530	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
2	nsv1041857	chr14:35084889-35417180	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv1052162	chr14:35245349-35451187	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
4	nsv1053722	chr14:35257458-35465784	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
5	nsv1045939	chr14:35311074-35494703	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
6	nsv456203	chr14:35311272-35512335	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
7	nsv564200	chr14:35311272-35512335	Weak transcription Genic enhancers Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35269400-35322200	Weak transcription	Fetal Brain Female	brain
2	chr14:35269400-35341600	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr14:35271800-35326400	Weak transcription	Esophagus	oesophagus
4	chr14:35272400-35333600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr14:35276200-35342400	Weak transcription	Pancreas	Pancrea
6	chr14:35276400-35329600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr14:35276400-35330000	Weak transcription	Colonic Mucosa	Colon
8	chr14:35276600-35320000	Weak transcription	Fetal Muscle Leg	muscle
9	chr14:35277200-35322000	Weak transcription	Fetal Intestine Large	intestine
10	chr14:35282600-35323400	Weak transcription	Lung	lung
11	chr14:35292600-35322600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr14:35292600-35322800	Weak transcription	Thymus	Thymus
13	chr14:35292800-35320200	Weak transcription	Fetal Stomach	stomach
14	chr14:35295000-35322800	Weak transcription	Fetal Intestine Small	intestine
15	chr14:35295200-35327000	Weak transcription	Spleen	Spleen
16	chr14:35296200-35321600	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr14:35296600-35315400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr14:35303800-35321600	Weak transcription	Duodenum Mucosa	Duodenum
19	chr14:35304000-35326600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr14:35304400-35319800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr14:35307000-35321000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr14:35307000-35333800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr14:35307400-35322000	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr14:35308600-35322000	Weak transcription	Liver	Liver
25	chr14:35308600-35322200	Weak transcription	Fetal Lung	lung
26	chr14:35312200-35336200	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr14:35312400-35326400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr14:35312600-35314000	ZNF genes & repeats	GM12878-XiMat	blood
29	chr14:35312600-35320000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr14:35312600-35321600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr14:35312600-35325800	Weak transcription	Brain Hippocampus Middle	brain
32	chr14:35312600-35328600	Weak transcription	Fetal Kidney	kidney
33	chr14:35312600-35335200	Weak transcription	Right Ventricle	heart
34	chr14:35312800-35314000	Strong transcription	Primary B cells from peripheral blood	blood
35	chr14:35312800-35315200	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr14:35312800-35315400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr14:35312800-35315800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr14:35312800-35316600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr14:35312800-35317000	Weak transcription	Primary B cells from cord blood	blood
40	chr14:35312800-35318200	Weak transcription	Primary hematopoietic stem cells	blood
41	chr14:35312800-35319000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr14:35312800-35320200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr14:35312800-35320200	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr14:35312800-35320200	Weak transcription	Osteobl	bone
45	chr14:35312800-35320400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr14:35312800-35321600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr14:35312800-35321800	Weak transcription	NH-A	brain
48	chr14:35312800-35322000	Weak transcription	HUES64 Cell Line	embryonic stem cell
49	chr14:35312800-35322000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr14:35312800-35322000	Weak transcription	HSMM	muscle

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