Variant report

Variant	rs17105664
Chromosome Location	chr14:68926193-68926194
allele	G/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:54)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:54 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr14:68722324..68722832-chr14:68925550..68926326,2	MCF-7	breast:
2	chr14:68604795..68607491-chr14:68924394..68928105,4	MCF-7	breast:
3	chr14:68829901..68834300-chr14:68923345..68927378,4	MCF-7	breast:
4	chr14:68925384..68926445-chr14:69020510..69021409,9	MCF-7	breast:
5	chr14:68925457..68926328-chr14:69289507..69290123,2	MCF-7	breast:
6	chr14:68926068..68927730-chr14:69025760..69028340,2	MCF-7	breast:
7	chr14:68697755..68699525-chr14:68925028..68926847,2	MCF-7	breast:
8	chr14:68860027..68860970-chr14:68925535..68926207,4	MCF-7	breast:
9	chr14:68925315..68927272-chr14:69282656..69284660,2	MCF-7	breast:
10	chr14:68859979..68862090-chr14:68925299..68927584,2	MCF-7	breast:
11	chr14:68916802..68919938-chr14:68924497..68927794,5	MCF-7	breast:
12	chr14:68925458..68926396-chr14:69036429..69037582,24	MCF-7	breast:
13	chr14:68925459..68926298-chr14:68939571..68940426,2	MCF-7	breast:
14	chr14:68722298..68723243-chr14:68925513..68926365,3	MCF-7	breast:
15	chr14:68722668..68723243-chr14:68925623..68926365,2	MCF-7	breast:
16	chr14:68661742..68664432-chr14:68925183..68928909,3	MCF-7	breast:
17	chr14:68870904..68872882-chr14:68924657..68927546,2	MCF-7	breast:
18	chr14:68843357..68844886-chr14:68924790..68926556,2	MCF-7	breast:
19	chr14:68924906..68927378-chr14:69044527..69046149,2	MCF-7	breast:
20	chr14:68718829..68724499-chr14:68924135..68928480,8	MCF-7	breast:
21	chr14:68925652..68926413-chr14:68935149..68936151,3	MCF-7	breast:
22	chr14:68863962..68866276-chr14:68924626..68928147,6	MCF-7	breast:
23	chr14:68715136..68717167-chr14:68924205..68927016,2	MCF-7	breast:
24	chr14:68914909..68916568-chr14:68924870..68926386,2	MCF-7	breast:
25	chr14:68849279..68853036-chr14:68925939..68929072,3	MCF-7	breast:
26	chr14:68865212..68868859-chr14:68924955..68927209,3	MCF-7	breast:
27	chr14:68902379..68904838-chr14:68925274..68927509,2	MCF-7	breast:
28	chr14:68924273..68927929-chr14:69034368..69037492,4	MCF-7	breast:
29	chr14:68925860..68927393-chr14:69092878..69095213,2	MCF-7	breast:
30	chr14:68923760..68926395-chr14:69020012..69022778,2	MCF-7	breast:
31	chr14:68656976..68658957-chr14:68924252..68926500,2	MCF-7	breast:
32	chr14:68843051..68845983-chr14:68924155..68927430,4	MCF-7	breast:
33	chr14:68644184..68646511-chr14:68924637..68927356,2	MCF-7	breast:
34	chr14:68711454..68713449-chr14:68924641..68927109,2	MCF-7	breast:
35	chr14:68860545..68863012-chr14:68924709..68926828,2	MCF-7	breast:
36	chr14:68925575..68926342-chr14:69032467..69033626,4	MCF-7	breast:
37	chr14:68925384..68926509-chr14:69036388..69037482,52	MCF-7	breast:
38	chr14:68924822..68938526-chr14:69257377..69265713,29	MCF-7	breast:
39	chr14:68924131..68926741-chr17:57919265..57922255,2	MCF-7	breast:
40	chr14:68775050..68777034-chr14:68923914..68926374,3	MCF-7	breast:
41	chr14:68704282..68707165-chr14:68925446..68927896,2	MCF-7	breast:
42	chr14:68925011..68926542-chr14:69036351..69037638,115	MCF-7	breast:
43	chr14:68925693..68928632-chr14:68950359..68952999,2	MCF-7	breast:
44	chr14:68694692..68697256-chr14:68924013..68926249,2	MCF-7	breast:
45	chr14:68925872..68927524-chr14:69250657..69253256,2	MCF-7	breast:
46	chr14:68773432..68774112-chr14:68925756..68926395,2	MCF-7	breast:
47	chr14:68771578..68778202-chr14:68921843..68928978,14	MCF-7	breast:
48	chr14:68917247..68930048-chr14:69249444..69264210,56	MCF-7	breast:
49	chr14:68925384..68926445-chr14:69020543..69021388,4	MCF-7	breast:
50	chr14:68924187..68928322-chr14:68988163..68990816,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000185650	Chromatin interaction
ENSG00000259038	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10129349	1.00[MEX][hapmap]
rs10130623	0.84[ASN][1000 genomes]
rs10131303	0.82[CHB][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.84[ASN][1000 genomes]
rs10133531	1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.83[YRI][hapmap];0.88[ASN][1000 genomes]
rs10135443	0.88[ASN][1000 genomes]
rs10142381	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10144394	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10145082	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[YRI][hapmap];0.88[ASN][1000 genomes]
rs10145446	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs10149278	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10151245	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs11622203	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs11625077	0.88[ASN][1000 genomes]
rs11626013	0.88[ASN][1000 genomes]
rs11626015	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.89[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11846851	0.88[ASN][1000 genomes]
rs11850581	1.00[CEU][hapmap]
rs12323677	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1570107	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs17105494	1.00[GIH][hapmap]
rs17105501	1.00[GIH][hapmap]
rs17105545	0.85[CHD][hapmap];1.00[GIH][hapmap]
rs17105573	1.00[CEU][hapmap];1.00[MEX][hapmap]
rs17105601	0.82[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap]
rs28376370	0.94[AFR][1000 genomes];0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28655994	0.88[ASN][1000 genomes]
rs3784127	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60145217	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7142184	0.88[ASN][1000 genomes]
rs7359118	1.00[CHD][hapmap];1.00[JPT][hapmap]

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	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
2	nsv832822	chr14:68874640-69060272	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs17105664	MDK	trans	brain	seeQTL
rs17105664	ACTN1	cis	lymphoblastoid	seeQTL

Chromatin state (count:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68922200-68937600	Weak transcription	Primary hematopoietic stem cells	blood
2	chr14:68924600-68926800	Enhancers	HepG2	liver
3	chr14:68924600-68926800	Enhancers	NHEK	skin
4	chr14:68924600-68931200	Enhancers	Muscle Satellite Cultured Cells	--
5	chr14:68924800-68926400	Enhancers	Fetal Kidney	kidney
6	chr14:68924800-68926600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr14:68924800-68926600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr14:68924800-68926800	Enhancers	Cortex derived primary cultured neurospheres	brain
9	chr14:68924800-68926800	Enhancers	HMEC	breast
10	chr14:68924800-68927000	Enhancers	Fetal Lung	lung
11	chr14:68924800-68927000	Enhancers	Small Intestine	intestine
12	chr14:68924800-68927400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr14:68924800-68928800	Enhancers	Fetal Muscle Leg	muscle
14	chr14:68924800-68929800	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr14:68924800-68936000	Enhancers	HSMM	muscle
16	chr14:68925000-68926600	Enhancers	Duodenum Mucosa	Duodenum
17	chr14:68925000-68935200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr14:68925200-68926400	Enhancers	NHDF-Ad	bronchial
19	chr14:68925200-68926600	Enhancers	Fetal Stomach	stomach
20	chr14:68925200-68926800	Enhancers	Osteobl	bone
21	chr14:68925400-68926200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr14:68925400-68926400	Enhancers	HUES64 Cell Line	embryonic stem cell
23	chr14:68925400-68926400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr14:68925400-68926600	Enhancers	Liver	Liver
25	chr14:68925400-68926600	Enhancers	Colon Smooth Muscle	Colon
26	chr14:68925400-68926600	Enhancers	Fetal Brain Female	brain
27	chr14:68925400-68928000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr14:68925400-68928000	Enhancers	Adipose Nuclei	Adipose
29	chr14:68925600-68926200	Enhancers	H1 Cell Line	embryonic stem cell
30	chr14:68925600-68926200	Enhancers	H9 Cell Line	embryonic stem cell
31	chr14:68925600-68926200	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr14:68925600-68926200	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr14:68925600-68926200	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr14:68925600-68926200	Enhancers	Brain Germinal Matrix	brain
35	chr14:68925600-68926200	Enhancers	Placenta	Placenta
36	chr14:68925600-68926200	Enhancers	Ovary	ovary
37	chr14:68925600-68926200	Enhancers	Sigmoid Colon	Sigmoid Colon
38	chr14:68925600-68926200	Active TSS	A549	lung
39	chr14:68925600-68926200	Flanking Active TSS	HUVEC	blood vessel
40	chr14:68925600-68926400	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr14:68925600-68926400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr14:68925600-68926400	Enhancers	iPS-15b Cell Line	embryonic stem cell
43	chr14:68925600-68926400	Enhancers	iPS-20b Cell Line	embryonic stem cell
44	chr14:68925600-68926400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr14:68925600-68926400	Enhancers	Brain Anterior Caudate	brain
46	chr14:68925600-68926400	Enhancers	Duodenum Smooth Muscle	Duodenum
47	chr14:68925600-68926400	Enhancers	Fetal Intestine Large	intestine
48	chr14:68925600-68926400	Flanking Active TSS	HSMMtube	muscle
49	chr14:68925600-68926400	Enhancers	NHLF	lung
50	chr14:68925600-68926600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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