Variant report

Variant	rs11851680
Chromosome Location	chr14:39609280-39609281
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:39606418..39609970-chr14:39637610..39641065,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000182400	Chromatin interaction

Extended variants
information (count: 75 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:73)

rs_ID	r²[population]
rs1002193	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10129762	0.83[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs10131369	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10134166	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10134656	0.82[AMR][1000 genomes]
rs10135561	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10136637	0.87[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs10140763	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10141079	0.82[AMR][1000 genomes]
rs10141081	0.82[AMR][1000 genomes]
rs10141924	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10142117	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10142350	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10145417	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10145476	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10146176	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10148712	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10150756	0.82[AMR][1000 genomes]
rs1040680	0.83[AMR][1000 genomes]
rs1050136	0.98[ASN][1000 genomes]
rs11622731	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11622968	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11623907	0.82[AMR][1000 genomes]
rs11623945	0.82[AMR][1000 genomes]
rs11624584	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11625689	0.82[AMR][1000 genomes]
rs11626002	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11627264	0.82[AMR][1000 genomes]
rs11628564	0.82[AMR][1000 genomes]
rs11628784	0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11845793	0.82[AMR][1000 genomes]
rs11848067	0.82[AMR][1000 genomes]
rs11849209	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11850579	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12323565	0.82[AMR][1000 genomes]
rs12587208	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13021	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13379129	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17092044	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs17092050	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17108596	0.82[AMR][1000 genomes]
rs17108696	0.82[AMR][1000 genomes]
rs17108948	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2025061	0.82[AMR][1000 genomes]
rs2144528	0.82[AMR][1000 genomes]
rs2273592	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28414518	0.82[AMR][1000 genomes]
rs28437577	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28470602	0.82[AMR][1000 genomes]
rs28501673	1.00[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28583114	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28666016	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs28701960	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs28821293	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs45622837	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55672305	0.82[AMR][1000 genomes]
rs55737943	0.82[AMR][1000 genomes]
rs56064304	0.82[AMR][1000 genomes]
rs56105133	0.82[AMR][1000 genomes]
rs57326310	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs57482489	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs57555422	0.91[AMR][1000 genomes];0.80[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58601678	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs59465524	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7144625	0.82[AMR][1000 genomes]
rs7155307	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7159520	0.82[AMR][1000 genomes]
rs74048710	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs74048711	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs761805	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8019396	0.82[AMR][1000 genomes]
rs926970	0.82[AMR][1000 genomes]
rs993675	0.82[AMR][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	esv3429206	chr14:39160730-39648836	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv1051247	chr14:39604035-39652789	Genic enhancers Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39583800-39626000	Weak transcription	Spleen	Spleen
2	chr14:39584000-39615000	Weak transcription	Pancreas	Pancrea
3	chr14:39584000-39623600	Weak transcription	Esophagus	oesophagus
4	chr14:39584200-39610800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr14:39584200-39636000	Weak transcription	Small Intestine	intestine
6	chr14:39584200-39638600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr14:39584400-39617200	Weak transcription	Psoas Muscle	Psoas
8	chr14:39584400-39620800	Weak transcription	Colonic Mucosa	Colon
9	chr14:39584400-39626600	Weak transcription	Aorta	Aorta
10	chr14:39584600-39609600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr14:39584600-39625800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr14:39586600-39610600	Strong transcription	HepG2	liver
13	chr14:39587200-39609600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr14:39588600-39635400	Weak transcription	Fetal Brain Male	brain
15	chr14:39589200-39610000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr14:39589200-39618000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr14:39589200-39626400	Weak transcription	Fetal Heart	heart
18	chr14:39592600-39622200	Weak transcription	Right Ventricle	heart
19	chr14:39592800-39618000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr14:39592800-39626600	Weak transcription	NHLF	lung
21	chr14:39594000-39620800	Weak transcription	Hela-S3	cervix
22	chr14:39596200-39621200	Weak transcription	Brain Substantia Nigra	brain
23	chr14:39597800-39610000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr14:39598000-39612600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr14:39598600-39610600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr14:39598600-39618000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr14:39598800-39609600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr14:39598800-39636200	Weak transcription	Stomach Mucosa	stomach
29	chr14:39600000-39609600	Strong transcription	Primary T helper cells fromperipheralblood	blood
30	chr14:39601000-39611400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr14:39601200-39610600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr14:39602200-39609600	Weak transcription	Thymus	Thymus
33	chr14:39602400-39610000	Strong transcription	Rectal Mucosa Donor 29	rectum
34	chr14:39602800-39610000	Strong transcription	Adipose Nuclei	Adipose
35	chr14:39602800-39610400	Strong transcription	Cortex derived primary cultured neurospheres	brain
36	chr14:39603000-39611600	Strong transcription	Fetal Muscle Trunk	muscle
37	chr14:39603600-39609600	Weak transcription	Rectal Smooth Muscle	rectum
38	chr14:39603600-39617200	Weak transcription	Left Ventricle	heart
39	chr14:39604200-39610200	Strong transcription	Fetal Intestine Large	intestine
40	chr14:39604200-39610600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr14:39604200-39617000	Weak transcription	NHDF-Ad	bronchial
42	chr14:39604400-39610800	Weak transcription	Primary neutrophils fromperipheralblood	blood
43	chr14:39604400-39635400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr14:39604800-39622400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr14:39605000-39611000	Weak transcription	Placenta	Placenta
46	chr14:39605200-39621200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr14:39605800-39625200	Weak transcription	HSMMtube	muscle
48	chr14:39606200-39609800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
49	chr14:39606200-39610800	Strong transcription	Fetal Brain Female	brain
50	chr14:39606800-39621200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood

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