Variant report

Variant	rs72725172
Chromosome Location	chr14:68509318-68509319
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:68500366..68502626-chr14:68506216..68509390,3	MCF-7	breast:
2	chr14:68508469..68511778-chr14:68605587..68608728,3	MCF-7	breast:
3	chr14:68508416..68510926-chr20:45984921..45987088,2	MCF-7	breast:
4	chr14:68507337..68509436-chr14:69260233..69262772,2	MCF-7	breast:
5	chr14:68405731..68407389-chr14:68509110..68511642,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000185650	Chromatin interaction
ENSG00000101040	Chromatin interaction

Extended variants
information (count: 134 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:133)

rs_ID	r²[population]
rs10129355	0.86[EUR][1000 genomes]
rs10129612	0.80[EUR][1000 genomes]
rs10130829	0.84[EUR][1000 genomes]
rs10132022	0.81[EUR][1000 genomes]
rs10133262	0.84[EUR][1000 genomes]
rs10133883	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10136129	0.84[EUR][1000 genomes]
rs10136790	0.84[EUR][1000 genomes]
rs10136868	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10139548	0.83[EUR][1000 genomes]
rs10140097	0.86[EUR][1000 genomes]
rs10140282	0.84[EUR][1000 genomes]
rs10143455	0.84[EUR][1000 genomes]
rs10143843	0.84[EUR][1000 genomes]
rs10151115	0.81[EUR][1000 genomes]
rs10467735	0.84[EUR][1000 genomes]
rs1080956	0.81[EUR][1000 genomes]
rs1080957	0.81[EUR][1000 genomes]
rs1080958	0.81[EUR][1000 genomes]
rs11158715	0.80[EUR][1000 genomes]
rs11158716	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11158717	0.84[EUR][1000 genomes]
rs11158718	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11621638	0.85[EUR][1000 genomes]
rs11622135	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11622243	0.84[EUR][1000 genomes]
rs11622787	0.86[EUR][1000 genomes]
rs11623355	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11623984	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs11624484	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11624609	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11626280	0.84[EUR][1000 genomes]
rs11629073	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11844529	0.84[EUR][1000 genomes]
rs11846344	0.84[EUR][1000 genomes]
rs11848187	0.88[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11848769	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11850191	0.84[EUR][1000 genomes]
rs11850946	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11852180	0.84[EUR][1000 genomes]
rs11852208	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12100584	0.84[EUR][1000 genomes]
rs12432193	0.86[ASN][1000 genomes]
rs12432681	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs12435554	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12436203	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12437178	0.86[EUR][1000 genomes]
rs12437276	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12437441	0.86[ASN][1000 genomes]
rs13329056	0.86[EUR][1000 genomes]
rs17104764	0.84[EUR][1000 genomes]
rs17192558	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17192586	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17783304	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1980654	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1980655	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2038565	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2093358	0.81[EUR][1000 genomes]
rs2208596	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs28470365	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs28474827	0.86[EUR][1000 genomes]
rs28474995	0.83[EUR][1000 genomes]
rs28488544	0.84[EUR][1000 genomes]
rs28509330	0.84[EUR][1000 genomes]
rs28649231	0.86[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs2877369	0.84[EUR][1000 genomes]
rs34588410	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34723132	0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35517486	0.86[ASN][1000 genomes]
rs4436722	0.84[EUR][1000 genomes]
rs4899231	0.81[EUR][1000 genomes]
rs4902535	0.84[EUR][1000 genomes]
rs4902536	0.84[EUR][1000 genomes]
rs4902538	0.84[EUR][1000 genomes]
rs4902539	0.84[EUR][1000 genomes]
rs4902540	0.84[EUR][1000 genomes]
rs4902544	0.86[EUR][1000 genomes]
rs4902545	0.81[EUR][1000 genomes]
rs57990032	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs60201005	0.86[EUR][1000 genomes]
rs60471554	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6573800	0.84[EUR][1000 genomes]
rs6573801	0.84[EUR][1000 genomes]
rs6573805	0.86[EUR][1000 genomes]
rs6573814	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs67566613	0.81[EUR][1000 genomes]
rs7142112	0.84[EUR][1000 genomes]
rs7142210	0.84[EUR][1000 genomes]
rs7142860	0.84[EUR][1000 genomes]
rs7145044	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7145771	0.82[EUR][1000 genomes]
rs7146354	0.84[EUR][1000 genomes]
rs7151917	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7154014	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7154646	0.84[EUR][1000 genomes]
rs7155097	0.83[EUR][1000 genomes]
rs7155985	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7157185	0.84[EUR][1000 genomes]
rs7158544	0.86[EUR][1000 genomes]
rs7160115	0.84[EUR][1000 genomes]
rs7161069	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72725138	0.81[EUR][1000 genomes]
rs72725141	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs72725149	0.88[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72725151	0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72725153	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72725154	0.85[EUR][1000 genomes]
rs72725156	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72725157	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72725158	0.85[EUR][1000 genomes]
rs72725159	0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72725160	0.85[EUR][1000 genomes]
rs72725163	0.85[EUR][1000 genomes]
rs72725165	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72725168	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72725170	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72725173	0.90[EUR][1000 genomes]
rs72725174	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs72725183	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72725185	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72725186	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72725187	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72725188	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8006437	0.84[EUR][1000 genomes]
rs8006492	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs8011621	0.81[EUR][1000 genomes]
rs8013677	0.84[EUR][1000 genomes]
rs8015128	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8016525	0.84[EUR][1000 genomes]
rs8020795	0.85[EUR][1000 genomes]
rs8021404	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8022206	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9672142	0.86[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:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68499800-68512600	Weak transcription	Adipose Nuclei	Adipose
2	chr14:68499800-68516200	Weak transcription	Primary hematopoietic stem cells	blood
3	chr14:68503600-68519800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr14:68506400-68511000	Enhancers	ES-I3 Cell Line	embryonic stem cell
5	chr14:68506400-68511200	Enhancers	iPS-15b Cell Line	embryonic stem cell
6	chr14:68506600-68510400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr14:68506600-68511200	Enhancers	Colon Smooth Muscle	Colon
8	chr14:68506600-68512000	Weak transcription	HUVEC	blood vessel
9	chr14:68506800-68511200	Enhancers	HUES64 Cell Line	embryonic stem cell
10	chr14:68507200-68511200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr14:68507400-68511000	Enhancers	Rectal Smooth Muscle	rectum
12	chr14:68507600-68510600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr14:68507600-68510800	Enhancers	H1 Cell Line	embryonic stem cell
14	chr14:68507600-68511600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr14:68507800-68510200	Enhancers	Psoas Muscle	Psoas
16	chr14:68507800-68511200	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr14:68507800-68511200	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chr14:68507800-68511200	Enhancers	iPS-20b Cell Line	embryonic stem cell
19	chr14:68507800-68511200	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr14:68507800-68511400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr14:68508000-68509400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr14:68508000-68510400	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr14:68508000-68511200	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr14:68508000-68511600	Enhancers	Fetal Lung	lung
25	chr14:68508000-68511600	Enhancers	Fetal Stomach	stomach
26	chr14:68508000-68514000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr14:68508200-68509600	Enhancers	Fetal Muscle Leg	muscle
28	chr14:68508400-68509400	Weak transcription	Stomach Smooth Muscle	stomach
29	chr14:68508400-68511200	Enhancers	NHEK	skin
30	chr14:68508400-68511400	Enhancers	Fetal Kidney	kidney
31	chr14:68508600-68509400	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr14:68508600-68511000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr14:68508600-68511400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr14:68508800-68510000	Enhancers	Brain Germinal Matrix	brain
35	chr14:68508800-68511200	Enhancers	Cortex derived primary cultured neurospheres	brain
36	chr14:68508800-68512600	Weak transcription	Ovary	ovary
37	chr14:68508800-68513000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr14:68509000-68509600	Enhancers	Pancreatic Islets	Pancreatic Islet
39	chr14:68509000-68510000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr14:68509000-68510000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr14:68509000-68510800	Enhancers	A549	lung
42	chr14:68509000-68517200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
43	chr14:68509200-68509800	Enhancers	Stomach Mucosa	stomach
44	chr14:68509200-68510000	Enhancers	Duodenum Smooth Muscle	Duodenum
45	chr14:68509200-68510000	Enhancers	Fetal Intestine Small	intestine
46	chr14:68509200-68510000	Enhancers	HMEC	breast
47	chr14:68509200-68511200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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