Variant report

Variant	rs28474995
Chromosome Location	chr14:68407010-68407011
allele	C/T
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:32)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:32 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:68405383..68414524-chr14:68603693..68608960,22	MCF-7	breast:
2	chr14:68405658..68408648-chr14:69273942..69276628,2	MCF-7	breast:
3	chr14:68405207..68413374-chr14:68603625..68613921,22	MCF-7	breast:
4	chr14:68304077..68306531-chr14:68406424..68408900,2	MCF-7	breast:
5	chr14:68404642..68407340-chr14:68634795..68636387,2	MCF-7	breast:
6	chr14:68405721..68408476-chr14:68436012..68438843,2	MCF-7	breast:
7	chr14:68406185..68411686-chr14:68720403..68727836,10	MCF-7	breast:
8	chr14:68406488..68409167-chr14:68711132..68714083,3	MCF-7	breast:
9	chr14:68406502..68410391-chr14:69284099..69289375,6	MCF-7	breast:
10	chr14:68401051..68404375-chr14:68404453..68408643,4	K562	blood:
11	chr14:68403008..68415592-chr14:69254956..69264690,41	MCF-7	breast:
12	chr14:68404625..68407079-chr14:69290419..69292387,2	MCF-7	breast:
13	chr14:68359134..68361352-chr14:68406025..68408962,2	MCF-7	breast:
14	chr14:68406857..68408477-chr14:68739231..68740855,2	MCF-7	breast:
15	chr14:68406192..68411564-chr14:69279428..69286293,11	MCF-7	breast:
16	chr14:68406980..68410129-chr14:68693689..68698967,5	MCF-7	breast:
17	chr14:68405978..68408761-chr14:68632650..68634652,2	MCF-7	breast:
18	chr14:68405495..68411980-chr14:69250946..69254866,9	MCF-7	breast:
19	chr14:68406708..68410646-chr14:69052499..69056687,4	MCF-7	breast:
20	chr14:68405745..68408366-chr14:68697948..68699941,3	MCF-7	breast:
21	chr14:68406762..68412382-chr14:68425953..68431173,8	MCF-7	breast:
22	chr14:68405746..68408665-chr14:68647500..68650644,3	MCF-7	breast:
23	chr14:68405780..68407740-chr14:68651563..68653556,2	MCF-7	breast:
24	chr14:68405643..68407485-chr14:68633340..68635771,2	MCF-7	breast:
25	chr14:68405927..68407979-chr14:68613878..68615812,2	MCF-7	breast:
26	chr14:68404009..68415107-chr14:68656381..68664155,17	MCF-7	breast:
27	chr14:68406746..68408855-chr14:68770868..68773760,2	MCF-7	breast:
28	chr14:68405731..68407389-chr14:68509110..68511642,2	MCF-7	breast:
29	chr14:68403242..68413680-chr14:69255078..69264293,34	MCF-7	breast:
30	chr14:68406635..68408147-chr14:68411464..68413637,2	MCF-7	breast:
31	chr14:68404777..68407278-chr14:68408888..68411874,2	K562	blood:
32	chr14:68406606..68409324-chr14:68699073..68700717,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000185650	Chromatin interaction

Extended variants
information (count: 131 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:130)

rs_ID	r²[population]
rs10129355	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10129612	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10130829	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10132022	0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10133262	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10133883	0.89[EUR][1000 genomes]
rs10136129	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10136174	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10136790	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10136868	0.87[EUR][1000 genomes]
rs10139548	0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10140097	0.85[AFR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10140282	0.84[AFR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10143455	0.85[AFR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10143843	0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10144995	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10148527	0.92[ASN][1000 genomes]
rs10151115	0.81[EUR][1000 genomes]
rs10151387	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10467735	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1080956	0.81[EUR][1000 genomes]
rs1080957	0.81[EUR][1000 genomes]
rs1080958	0.81[EUR][1000 genomes]
rs10873210	0.80[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs11158715	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11158716	0.85[EUR][1000 genomes]
rs11158717	0.83[EUR][1000 genomes]
rs11622135	0.86[EUR][1000 genomes]
rs11622243	0.83[AFR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11622787	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11623355	0.89[EUR][1000 genomes]
rs11623984	0.89[EUR][1000 genomes]
rs11624609	0.85[EUR][1000 genomes]
rs11626280	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11844529	0.83[AFR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11846344	0.88[AFR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11848187	0.85[EUR][1000 genomes]
rs11848769	0.86[EUR][1000 genomes]
rs11850191	0.88[AFR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11850946	0.85[EUR][1000 genomes]
rs11852180	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11852208	0.85[EUR][1000 genomes]
rs12100584	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12431697	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12432681	0.89[EUR][1000 genomes]
rs12435554	0.85[EUR][1000 genomes]
rs12437178	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12437276	0.86[EUR][1000 genomes]
rs13329056	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs17104764	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17104776	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17104800	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17192558	0.85[EUR][1000 genomes]
rs17192586	0.84[EUR][1000 genomes]
rs17783304	0.85[EUR][1000 genomes]
rs1950767	0.92[ASN][1000 genomes]
rs1980654	0.89[EUR][1000 genomes]
rs1980655	0.89[EUR][1000 genomes]
rs2009191	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2038565	0.83[EUR][1000 genomes]
rs2093358	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2208596	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs28444723	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28470365	0.82[EUR][1000 genomes]
rs28474827	0.82[EUR][1000 genomes]
rs28488544	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28509330	0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2877369	0.83[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28855496	0.92[ASN][1000 genomes]
rs34588410	0.86[EUR][1000 genomes]
rs34723132	0.85[EUR][1000 genomes]
rs4436722	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4899231	0.81[EUR][1000 genomes]
rs4902533	0.92[ASN][1000 genomes]
rs4902535	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4902536	0.82[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4902538	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4902539	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4902540	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4902544	0.85[AFR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4902545	0.81[EUR][1000 genomes]
rs57990032	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs58151429	0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60201005	0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs60415085	0.89[ASN][1000 genomes]
rs60471554	0.89[EUR][1000 genomes]
rs6573800	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6573801	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6573805	0.85[AFR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6573814	0.81[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs67566613	0.81[EUR][1000 genomes]
rs7142112	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7142210	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7142860	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7145044	0.85[EUR][1000 genomes]
rs7145771	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7146354	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7150168	0.81[EUR][1000 genomes]
rs7151917	0.85[EUR][1000 genomes]
rs7154014	0.83[EUR][1000 genomes]
rs7154646	0.85[AFR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7155097	0.85[AFR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7155840	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7155985	0.85[EUR][1000 genomes]
rs7157185	0.88[AFR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7158544	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7160115	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7161069	0.81[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs72725141	0.85[EUR][1000 genomes]
rs72725149	0.85[EUR][1000 genomes]
rs72725151	0.86[EUR][1000 genomes]
rs72725153	0.86[EUR][1000 genomes]
rs72725156	0.82[EUR][1000 genomes]
rs72725157	0.86[EUR][1000 genomes]
rs72725159	0.82[EUR][1000 genomes]
rs72725165	0.85[EUR][1000 genomes]
rs72725168	0.86[EUR][1000 genomes]
rs72725170	0.86[EUR][1000 genomes]
rs72725172	0.83[EUR][1000 genomes]
rs8006437	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8006492	0.81[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs8011621	0.81[EUR][1000 genomes]
rs8013677	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8015128	0.83[EUR][1000 genomes]
rs8016525	0.86[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8020795	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs8021404	0.83[EUR][1000 genomes]
rs8022206	0.83[EUR][1000 genomes]
rs9323501	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9672142	0.93[EUR][1000 genomes];0.90[ASN][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:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68395400-68408000	Weak transcription	Ovary	ovary
2	chr14:68401200-68407200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr14:68401200-68407200	Weak transcription	Brain Anterior Caudate	brain
4	chr14:68401200-68407200	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr14:68401600-68407200	Weak transcription	Fetal Brain Male	brain
6	chr14:68401600-68407200	Weak transcription	HSMM	muscle
7	chr14:68401600-68407600	Weak transcription	Brain Angular Gyrus	brain
8	chr14:68401600-68407600	Weak transcription	Stomach Smooth Muscle	stomach
9	chr14:68401800-68407200	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr14:68401800-68407400	Weak transcription	Brain Germinal Matrix	brain
11	chr14:68401800-68407800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr14:68402200-68407600	Weak transcription	Fetal Thymus	thymus
13	chr14:68403200-68407200	Weak transcription	Monocytes-CD14+_RO01746	blood
14	chr14:68403800-68409400	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr14:68404000-68409600	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr14:68404200-68409600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr14:68404400-68407600	Weak transcription	Psoas Muscle	Psoas
18	chr14:68404400-68407600	Weak transcription	HUVEC	blood vessel
19	chr14:68404600-68407200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr14:68404600-68408200	Weak transcription	Esophagus	oesophagus
21	chr14:68404800-68407200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr14:68404800-68409000	Enhancers	Fetal Lung	lung
23	chr14:68405200-68407200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr14:68405200-68407200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr14:68405400-68408000	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr14:68405600-68407200	Weak transcription	NHEK	skin
27	chr14:68405600-68407600	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr14:68405600-68408000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr14:68406000-68407200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr14:68406000-68407200	Weak transcription	Skeletal Muscle Female	skeletal muscle
31	chr14:68406200-68407200	Weak transcription	A549	lung
32	chr14:68406200-68408000	Enhancers	Liver	Liver
33	chr14:68406200-68408400	Enhancers	Breast Myoepithelial Primary Cells	Breast
34	chr14:68406200-68409000	Enhancers	Fetal Muscle Leg	muscle
35	chr14:68406200-68409400	Enhancers	HepG2	liver
36	chr14:68406400-68407400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr14:68406400-68407600	Enhancers	NHDF-Ad	bronchial
38	chr14:68406400-68408000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr14:68406400-68408000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr14:68406400-68408400	Weak transcription	H9 Cell Line	embryonic stem cell
41	chr14:68406600-68407600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr14:68406600-68407600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr14:68406600-68407600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr14:68406800-68407200	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr14:68406800-68407200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr14:68406800-68407600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr14:68406800-68408200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr14:68406800-68408600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr14:68406800-68408600	Enhancers	Placenta	Placenta
50	chr14:68406800-68411800	Enhancers	Fetal Stomach	stomach

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