Variant report

Variant	rs28516665
Chromosome Location	chr14:68407556-68407557
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:33)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:33 , 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	chr14:68405721..68408476-chr14:68436012..68438843,2	MCF-7	breast:
6	chr14:68407550..68410213-chr14:68431629..68433238,2	MCF-7	breast:
7	chr14:68407164..68408664-chr14:68656866..68659187,2	MCF-7	breast:
8	chr14:68406185..68411686-chr14:68720403..68727836,10	MCF-7	breast:
9	chr14:68406488..68409167-chr14:68711132..68714083,3	MCF-7	breast:
10	chr14:68406502..68410391-chr14:69284099..69289375,6	MCF-7	breast:
11	chr14:68401051..68404375-chr14:68404453..68408643,4	K562	blood:
12	chr14:68403008..68415592-chr14:69254956..69264690,41	MCF-7	breast:
13	chr14:68359134..68361352-chr14:68406025..68408962,2	MCF-7	breast:
14	chr14:68407338..68412061-chr14:68925199..68928533,5	MCF-7	breast:
15	chr14:68406857..68408477-chr14:68739231..68740855,2	MCF-7	breast:
16	chr14:68406192..68411564-chr14:69279428..69286293,11	MCF-7	breast:
17	chr14:68406980..68410129-chr14:68693689..68698967,5	MCF-7	breast:
18	chr14:68405978..68408761-chr14:68632650..68634652,2	MCF-7	breast:
19	chr14:68405495..68411980-chr14:69250946..69254866,9	MCF-7	breast:
20	chr14:68406708..68410646-chr14:69052499..69056687,4	MCF-7	breast:
21	chr14:68405745..68408366-chr14:68697948..68699941,3	MCF-7	breast:
22	chr14:68406762..68412382-chr14:68425953..68431173,8	MCF-7	breast:
23	chr14:68405746..68408665-chr14:68647500..68650644,3	MCF-7	breast:
24	chr14:68407418..68410166-chr14:68654124..68655771,2	MCF-7	breast:
25	chr14:68407343..68410074-chr14:68773850..68776325,3	MCF-7	breast:
26	chr14:68405780..68407740-chr14:68651563..68653556,2	MCF-7	breast:
27	chr14:68405927..68407979-chr14:68613878..68615812,2	MCF-7	breast:
28	chr14:68404009..68415107-chr14:68656381..68664155,17	MCF-7	breast:
29	chr14:68406746..68408855-chr14:68770868..68773760,2	MCF-7	breast:
30	chr14:68403242..68413680-chr14:69255078..69264293,34	MCF-7	breast:
31	chr14:68407127..68413734-chr14:68709753..68718255,16	MCF-7	breast:
32	chr14:68406635..68408147-chr14:68411464..68413637,2	MCF-7	breast:
33	chr14:68406606..68409324-chr14:68699073..68700717,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000185650	Chromatin interaction

Extended variants
information (count: 138 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:137)

rs_ID	r²[population]
rs10130605	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10130837	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10130997	0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10131828	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10132711	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10132828	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10133485	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10133652	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10134664	0.88[AFR][1000 genomes]
rs10134988	0.85[EUR][1000 genomes]
rs10135046	0.88[AFR][1000 genomes]
rs10135256	0.84[AFR][1000 genomes]
rs10135316	1.00[ASN][1000 genomes]
rs10135925	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10137457	0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10137712	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10138719	0.97[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs10140465	0.88[AFR][1000 genomes]
rs10142285	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10142687	0.92[EUR][1000 genomes]
rs10142929	0.92[EUR][1000 genomes]
rs10143219	0.80[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10143895	0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10144128	0.84[AFR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10144224	0.84[AFR][1000 genomes]
rs10145820	0.81[AFR][1000 genomes]
rs10145884	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10146113	1.00[ASN][1000 genomes]
rs10146189	0.80[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10146719	0.97[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs10146766	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10146831	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10147569	1.00[ASN][1000 genomes]
rs10147820	0.80[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10148893	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10150330	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10150789	0.89[AFR][1000 genomes]
rs10151123	0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10151317	0.80[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs10450891	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10467819	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1073024	0.83[AFR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1073025	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1073026	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11158710	0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs1118397	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17104758	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17104774	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17104783	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17104786	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17104793	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17104796	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17104799	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17104823	1.00[ASN][1000 genomes]
rs17104824	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17104827	0.80[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17104829	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17104862	0.97[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs17104863	0.97[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs17104880	0.91[AFR][1000 genomes]
rs17104900	0.88[AFR][1000 genomes]
rs17783202	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1950766	0.98[ASN][1000 genomes]
rs2180537	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28396172	0.85[EUR][1000 genomes]
rs28405326	1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs28434770	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28444090	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28448732	0.85[AFR][1000 genomes]
rs28473357	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs28701947	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28751570	1.00[ASN][1000 genomes]
rs28751961	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28757308	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28816808	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28833913	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28835585	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28847917	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28869007	0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs28896907	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34700596	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35608268	0.84[EUR][1000 genomes]
rs4899226	0.92[EUR][1000 genomes]
rs4899228	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4899229	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4902523	0.92[EUR][1000 genomes]
rs4902525	0.80[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4902529	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4902530	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4902531	1.00[EUR][1000 genomes]
rs4902532	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4902534	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4902537	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902541	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4902543	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60014063	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6573802	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6573806	0.97[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs7140987	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7147296	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7149122	0.84[EUR][1000 genomes]
rs7149360	0.84[EUR][1000 genomes]
rs7149460	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7149796	0.92[EUR][1000 genomes]
rs7150467	0.84[EUR][1000 genomes]
rs7150860	1.00[EUR][1000 genomes]
rs7151035	0.92[EUR][1000 genomes]
rs7152445	0.84[EUR][1000 genomes]
rs7152727	0.84[EUR][1000 genomes]
rs7153470	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7154725	0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7157550	0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7157720	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73282485	1.00[ASN][1000 genomes]
rs73284210	0.98[ASN][1000 genomes]
rs8003181	0.95[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8006175	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8007989	0.92[EUR][1000 genomes]
rs8008791	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8014844	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8015520	1.00[EUR][1000 genomes]
rs8015595	0.92[EUR][1000 genomes]
rs8015741	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8016246	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8016563	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8017718	1.00[EUR][1000 genomes]
rs8017930	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8018029	0.87[AFR][1000 genomes]
rs8018883	1.00[EUR][1000 genomes]
rs8019420	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8020512	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs957930	0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9652362	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9652363	0.86[AFR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9652364	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9672111	0.97[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs9796374	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[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:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68395400-68408000	Weak transcription	Ovary	ovary
2	chr14:68401600-68407600	Weak transcription	Brain Angular Gyrus	brain
3	chr14:68401600-68407600	Weak transcription	Stomach Smooth Muscle	stomach
4	chr14:68401800-68407800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr14:68402200-68407600	Weak transcription	Fetal Thymus	thymus
6	chr14:68403800-68409400	Enhancers	HUES6 Cell Line	embryonic stem cell
7	chr14:68404000-68409600	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr14:68404200-68409600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr14:68404400-68407600	Weak transcription	Psoas Muscle	Psoas
10	chr14:68404400-68407600	Weak transcription	HUVEC	blood vessel
11	chr14:68404600-68408200	Weak transcription	Esophagus	oesophagus
12	chr14:68404800-68409000	Enhancers	Fetal Lung	lung
13	chr14:68405400-68408000	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr14:68405600-68407600	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr14:68405600-68408000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr14:68406200-68408000	Enhancers	Liver	Liver
17	chr14:68406200-68408400	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr14:68406200-68409000	Enhancers	Fetal Muscle Leg	muscle
19	chr14:68406200-68409400	Enhancers	HepG2	liver
20	chr14:68406400-68407600	Enhancers	NHDF-Ad	bronchial
21	chr14:68406400-68408000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr14:68406400-68408000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr14:68406400-68408400	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr14:68406600-68407600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr14:68406600-68407600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr14:68406600-68407600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr14:68406800-68407600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr14:68406800-68408200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr14:68406800-68408600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr14:68406800-68408600	Enhancers	Placenta	Placenta
31	chr14:68406800-68411800	Enhancers	Fetal Stomach	stomach
32	chr14:68406800-68412000	Enhancers	Colon Smooth Muscle	Colon
33	chr14:68407000-68407600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr14:68407000-68407600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr14:68407000-68407800	Enhancers	Primary monocytes fromperipheralblood	blood
36	chr14:68407000-68407800	Enhancers	Adipose Nuclei	Adipose
37	chr14:68407000-68408000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr14:68407000-68408400	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr14:68407000-68408400	Enhancers	Pancreas	Pancrea
40	chr14:68407000-68408600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr14:68407000-68408600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
42	chr14:68407000-68408600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr14:68407000-68408600	Enhancers	HMEC	breast
44	chr14:68407000-68408800	Enhancers	Stomach Mucosa	stomach
45	chr14:68407000-68408800	Enhancers	HSMMtube	muscle
46	chr14:68407000-68409200	Enhancers	Muscle Satellite Cultured Cells	--
47	chr14:68407000-68409400	Enhancers	HUES48 Cell Line	embryonic stem cell
48	chr14:68407000-68409400	Enhancers	Fetal Kidney	kidney
49	chr14:68407000-68409400	Enhancers	Osteobl	bone
50	chr14:68407000-68411800	Enhancers	Rectal Smooth Muscle	rectum

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