Variant report

Variant	rs72725141
Chromosome Location	chr14:68405244-68405245
allele	A/C
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:68405207..68413374-chr14:68603625..68613921,22	MCF-7	breast:
2	chr14:68404642..68407340-chr14:68634795..68636387,2	MCF-7	breast:
3	chr14:68401051..68404375-chr14:68404453..68408643,4	K562	blood:
4	chr14:68403008..68415592-chr14:69254956..69264690,41	MCF-7	breast:
5	chr14:68404625..68407079-chr14:69290419..69292387,2	MCF-7	breast:
6	chr14:68404009..68415107-chr14:68656381..68664155,17	MCF-7	breast:
7	chr14:68403242..68413680-chr14:69255078..69264293,34	MCF-7	breast:
8	chr14:68404777..68407278-chr14:68408888..68411874,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000185650	Chromatin interaction

Extended variants
information (count: 144 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:143)

rs_ID	r²[population]
rs10129355	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10129612	0.82[EUR][1000 genomes]
rs10130829	0.89[EUR][1000 genomes]
rs10132022	0.83[EUR][1000 genomes]
rs10133262	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10133883	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10136129	0.89[EUR][1000 genomes]
rs10136174	0.84[EUR][1000 genomes]
rs10136790	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10136868	0.83[EUR][1000 genomes]
rs10139548	0.88[EUR][1000 genomes]
rs10140097	0.88[EUR][1000 genomes]
rs10140282	0.89[EUR][1000 genomes]
rs10143455	0.86[EUR][1000 genomes]
rs10143843	0.89[EUR][1000 genomes]
rs10144995	0.84[EUR][1000 genomes]
rs1033686	0.85[EUR][1000 genomes]
rs10467735	0.89[EUR][1000 genomes]
rs11158700	0.87[ASN][1000 genomes]
rs11158701	0.87[ASN][1000 genomes]
rs11158715	0.82[EUR][1000 genomes]
rs11158716	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11621638	0.87[EUR][1000 genomes]
rs11622135	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11622243	0.89[EUR][1000 genomes]
rs11622787	0.88[EUR][1000 genomes]
rs11623355	0.84[EUR][1000 genomes]
rs11623984	0.84[EUR][1000 genomes]
rs11624484	0.85[AFR][1000 genomes];0.80[EUR][1000 genomes]
rs11624609	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs11626280	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11626332	0.87[ASN][1000 genomes]
rs11629073	0.85[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs11844529	0.89[EUR][1000 genomes]
rs11846344	0.89[EUR][1000 genomes]
rs11848187	0.83[EUR][1000 genomes]
rs11848769	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11850191	0.89[EUR][1000 genomes]
rs11850946	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11852180	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11852208	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12100584	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12431490	0.87[ASN][1000 genomes]
rs12431697	0.83[EUR][1000 genomes]
rs12432558	0.87[ASN][1000 genomes]
rs12432681	0.84[EUR][1000 genomes]
rs12433779	0.86[ASN][1000 genomes]
rs12434751	0.87[ASN][1000 genomes]
rs12435554	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12437178	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12437276	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs13329056	0.88[EUR][1000 genomes]
rs17104764	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17104776	0.82[EUR][1000 genomes]
rs17104800	0.84[EUR][1000 genomes]
rs17192558	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17192586	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17783304	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1980654	0.84[EUR][1000 genomes]
rs1980655	0.84[EUR][1000 genomes]
rs2009191	0.84[EUR][1000 genomes]
rs2038565	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2093358	0.83[EUR][1000 genomes]
rs2208596	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28444723	0.84[EUR][1000 genomes]
rs28470365	0.84[EUR][1000 genomes]
rs28474827	0.81[EUR][1000 genomes]
rs28474995	0.85[EUR][1000 genomes]
rs28488544	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs28509330	0.89[EUR][1000 genomes]
rs28649231	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28713367	0.87[ASN][1000 genomes]
rs2877369	0.89[EUR][1000 genomes]
rs34588410	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34723132	0.95[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34759521	0.80[ASN][1000 genomes]
rs35803514	0.86[ASN][1000 genomes]
rs4436722	0.89[EUR][1000 genomes]
rs4902535	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4902536	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4902538	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4902539	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4902540	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4902544	0.88[EUR][1000 genomes]
rs57990032	0.88[EUR][1000 genomes]
rs58151429	0.84[EUR][1000 genomes]
rs60201005	0.88[EUR][1000 genomes]
rs60471554	0.84[EUR][1000 genomes]
rs6573800	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6573801	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6573805	0.88[EUR][1000 genomes]
rs6573814	0.84[EUR][1000 genomes]
rs7142112	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7142210	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7142860	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7145044	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7145771	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7146354	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7150705	0.87[ASN][1000 genomes]
rs7150903	0.87[ASN][1000 genomes]
rs7151495	0.87[ASN][1000 genomes]
rs7151917	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7154014	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7154646	0.89[EUR][1000 genomes]
rs7155097	0.88[EUR][1000 genomes]
rs7155840	0.84[EUR][1000 genomes]
rs7155985	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7157185	0.89[EUR][1000 genomes]
rs7158544	0.88[EUR][1000 genomes]
rs7160115	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7161069	0.84[EUR][1000 genomes]
rs72725127	0.87[ASN][1000 genomes]
rs72725138	0.90[EUR][1000 genomes]
rs72725149	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72725151	0.97[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72725153	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72725154	0.87[EUR][1000 genomes]
rs72725156	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72725157	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72725158	0.87[EUR][1000 genomes]
rs72725159	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72725160	0.87[EUR][1000 genomes]
rs72725163	0.87[EUR][1000 genomes]
rs72725165	0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72725168	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72725170	0.96[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72725172	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72725173	0.82[EUR][1000 genomes]
rs72725174	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs72725185	0.85[AFR][1000 genomes]
rs72725187	0.85[AFR][1000 genomes]
rs72725188	0.85[AFR][1000 genomes]
rs764088	0.87[ASN][1000 genomes]
rs8006437	0.89[EUR][1000 genomes]
rs8006492	0.84[EUR][1000 genomes]
rs8013677	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8015128	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8016525	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8020795	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs8021404	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8022206	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9323501	0.84[EUR][1000 genomes]
rs9672142	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869154	chr14:68366754-69041768	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68395400-68408000	Weak transcription	Ovary	ovary
2	chr14:68400400-68407000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr14:68401000-68406200	Weak transcription	Fetal Muscle Leg	muscle
4	chr14:68401200-68407000	Weak transcription	Stomach Mucosa	stomach
5	chr14:68401200-68407200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr14:68401200-68407200	Weak transcription	Brain Anterior Caudate	brain
7	chr14:68401200-68407200	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr14:68401400-68405600	Weak transcription	Liver	Liver
9	chr14:68401600-68405400	Weak transcription	Placenta	Placenta
10	chr14:68401600-68406200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr14:68401600-68406400	Weak transcription	NHDF-Ad	bronchial
12	chr14:68401600-68407000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr14:68401600-68407000	Weak transcription	Rectal Smooth Muscle	rectum
14	chr14:68401600-68407000	Weak transcription	HSMMtube	muscle
15	chr14:68401600-68407000	Weak transcription	NHLF	lung
16	chr14:68401600-68407200	Weak transcription	Fetal Brain Male	brain
17	chr14:68401600-68407200	Weak transcription	HSMM	muscle
18	chr14:68401600-68407600	Weak transcription	Brain Angular Gyrus	brain
19	chr14:68401600-68407600	Weak transcription	Stomach Smooth Muscle	stomach
20	chr14:68401800-68406400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr14:68401800-68407000	Weak transcription	Cortex derived primary cultured neurospheres	brain
22	chr14:68401800-68407000	Weak transcription	Fetal Kidney	kidney
23	chr14:68401800-68407200	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr14:68401800-68407400	Weak transcription	Brain Germinal Matrix	brain
25	chr14:68401800-68407800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr14:68402200-68407600	Weak transcription	Fetal Thymus	thymus
27	chr14:68403000-68406800	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr14:68403000-68407000	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr14:68403200-68407200	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr14:68403800-68406400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr14:68403800-68406600	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr14:68403800-68409400	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr14:68404000-68406600	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr14:68404000-68409600	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr14:68404200-68405400	Enhancers	Placenta Amnion	Placenta Amnion
36	chr14:68404200-68405600	Enhancers	H1 Cell Line	embryonic stem cell
37	chr14:68404200-68406600	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr14:68404200-68407000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr14:68404200-68407000	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr14:68404200-68409600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr14:68404400-68406400	Enhancers	Colon Smooth Muscle	Colon
42	chr14:68404400-68406800	Enhancers	iPS-20b Cell Line	embryonic stem cell
43	chr14:68404400-68407600	Weak transcription	Psoas Muscle	Psoas
44	chr14:68404400-68407600	Weak transcription	HUVEC	blood vessel
45	chr14:68404600-68406000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr14:68404600-68407200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr14:68404600-68408200	Weak transcription	Esophagus	oesophagus
48	chr14:68404800-68407200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr14:68404800-68409000	Enhancers	Fetal Lung	lung
50	chr14:68405000-68405400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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