Variant report

Variant	rs8004716
Chromosome Location	chr14:39772020-39772021
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:39769729..39772200-chr14:39779673..39781818,3	MCF-7	breast:
2	chr14:39644738..39647124-chr14:39769645..39772473,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000259083	Chromatin interaction

Extended variants
information (count: 90 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:88)

rs_ID	r²[population]
rs10130008	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10131617	0.96[CHB][hapmap];0.96[JPT][hapmap]
rs10133417	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10134365	0.96[CHB][hapmap];0.95[JPT][hapmap]
rs10137052	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10137352	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10137905	0.95[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10138024	0.80[ASN][1000 genomes]
rs10138869	0.83[CHB][hapmap];0.91[JPT][hapmap]
rs10148574	0.88[ASN][1000 genomes]
rs10148740	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10149352	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10151659	0.95[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[EUR][1000 genomes]
rs10162550	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs1040810	0.81[ASN][1000 genomes]
rs10872920	0.91[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs11157053	0.95[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs11157054	0.82[ASN][1000 genomes]
rs11157057	0.87[ASN][1000 genomes]
rs11157058	1.00[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11157061	0.81[ASN][1000 genomes]
rs11620695	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11621330	0.91[CHB][hapmap];0.95[JPT][hapmap]
rs11624144	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11624839	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11626679	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11627580	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs12432397	0.82[ASN][1000 genomes]
rs12434140	0.83[CHB][hapmap];0.96[JPT][hapmap]
rs12587713	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12588386	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12588728	0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12590172	0.81[JPT][hapmap]
rs12880609	0.90[ASN][1000 genomes]
rs12883781	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12887525	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12892482	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12894855	0.91[CEU][hapmap];0.92[JPT][hapmap]
rs12896838	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1570132	0.82[ASN][1000 genomes]
rs1594842	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17109021	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs17109028	0.95[CHB][hapmap];0.95[JPT][hapmap]
rs17109073	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap]
rs17109100	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1897792	0.86[CHB][hapmap];0.95[JPT][hapmap]
rs1950952	0.82[CHB][hapmap];0.96[JPT][hapmap];0.84[ASN][1000 genomes]
rs1998194	0.91[CHB][hapmap];0.91[JPT][hapmap]
rs2082635	0.91[CHB][hapmap];0.96[JPT][hapmap];0.88[ASN][1000 genomes]
rs2274395	0.86[JPT][hapmap]
rs2274396	0.95[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2274399	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28619058	0.82[ASN][1000 genomes]
rs34589600	0.81[AMR][1000 genomes]
rs35201135	0.80[ASN][1000 genomes]
rs35904659	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs36057593	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3814860	0.86[JPT][hapmap]
rs4902528	0.82[CHB][hapmap];0.91[JPT][hapmap]
rs4902569	0.90[CEU][hapmap];0.91[JPT][hapmap]
rs4902570	0.90[CEU][hapmap];0.91[JPT][hapmap]
rs4902622	0.87[CHB][hapmap];0.86[JPT][hapmap]
rs4902648	0.83[CHB][hapmap];0.81[JPT][hapmap]
rs57781286	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62000670	0.84[ASN][1000 genomes]
rs6571915	0.80[ASN][1000 genomes]
rs6571919	0.96[CHB][hapmap];0.96[JPT][hapmap];0.83[ASN][1000 genomes]
rs6571926	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7140164	0.86[CHB][hapmap];0.91[JPT][hapmap]
rs7143646	0.91[CHB][hapmap];0.95[JPT][hapmap]
rs7144848	0.80[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7148150	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7151835	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7152341	0.87[JPT][hapmap]
rs7153482	0.86[CHB][hapmap];0.91[JPT][hapmap]
rs7161403	0.82[JPT][hapmap]
rs719455	0.88[CHB][hapmap];0.83[JPT][hapmap]
rs8003117	0.84[ASN][1000 genomes]
rs8006321	0.86[JPT][hapmap]
rs8007252	0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8014123	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8018717	0.95[CHB][hapmap];0.95[JPT][hapmap];0.82[ASN][1000 genomes]
rs910370	0.88[CHB][hapmap];0.83[JPT][hapmap]
rs9322998	0.83[ASN][1000 genomes]
rs956108	0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs956109	0.81[CEU][hapmap];0.96[CHB][hapmap];0.96[JPT][hapmap];0.82[ASN][1000 genomes]
rs9671943	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9671953	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1037183	chr14:39736939-39949233	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv542048	chr14:39736939-39949233	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 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	chr14:39738200-39813800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr14:39746200-39776600	Weak transcription	K562	blood
3	chr14:39749400-39785400	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr14:39752600-39808200	Weak transcription	Stomach Mucosa	stomach
5	chr14:39755400-39775800	Strong transcription	Primary neutrophils fromperipheralblood	blood
6	chr14:39755400-39783400	Strong transcription	Liver	Liver
7	chr14:39755600-39780400	Strong transcription	HepG2	liver
8	chr14:39755600-39797200	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr14:39756000-39788600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr14:39756200-39776000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr14:39756200-39828400	Weak transcription	Brain Germinal Matrix	brain
12	chr14:39756400-39773200	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr14:39756400-39774000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr14:39756600-39819600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr14:39756800-39797800	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr14:39757000-39783400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
17	chr14:39757200-39773800	Strong transcription	Primary T helper cells fromperipheralblood	blood
18	chr14:39757400-39796000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr14:39757400-39843800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr14:39759400-39801800	Weak transcription	NHLF	lung
21	chr14:39760000-39775800	Strong transcription	Primary T helper cells PMA-I stimulated	--
22	chr14:39761000-39775200	Strong transcription	Primary B cells from peripheral blood	blood
23	chr14:39761600-39773400	Strong transcription	Fetal Intestine Large	intestine
24	chr14:39762200-39774200	Strong transcription	Duodenum Mucosa	Duodenum
25	chr14:39762400-39801600	Weak transcription	Fetal Brain Male	brain
26	chr14:39762600-39772600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr14:39762600-39774400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr14:39763200-39772200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr14:39763400-39772200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr14:39763400-39776000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr14:39763800-39772200	Strong transcription	Rectal Mucosa Donor 31	rectum
32	chr14:39763800-39772600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr14:39764000-39786200	Weak transcription	Brain Substantia Nigra	brain
34	chr14:39764400-39785400	Weak transcription	Esophagus	oesophagus
35	chr14:39764600-39785600	Weak transcription	Gastric	stomach
36	chr14:39764600-39785600	Weak transcription	Psoas Muscle	Psoas
37	chr14:39764600-39790000	Weak transcription	Fetal Brain Female	brain
38	chr14:39764600-39808200	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr14:39764600-39818400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr14:39764800-39778200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr14:39764800-39802400	Weak transcription	Brain Cingulate Gyrus	brain
42	chr14:39764800-39805200	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr14:39765000-39785800	Weak transcription	Lung	lung
44	chr14:39765400-39773200	Weak transcription	NHDF-Ad	bronchial
45	chr14:39765400-39785600	Weak transcription	Rectal Smooth Muscle	rectum
46	chr14:39765600-39789400	Weak transcription	HMEC	breast
47	chr14:39765600-39803800	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr14:39765600-39807800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
49	chr14:39765800-39773000	Weak transcription	HSMM	muscle
50	chr14:39765800-39785400	Weak transcription	Brain Angular Gyrus	brain

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