Variant report

Variant	rs72988718
Chromosome Location	chr6:140304929-140304930
allele	A/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: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	chr6:139693546..139697103-chr6:140303814..140307360,4	MCF-7	breast:
2	chr6:140297195..140299311-chr6:140303038..140305448,2	K562	blood:
3	chr6:139688550..139692110-chr6:140303432..140306367,3	MCF-7	breast:
4	chr6:139694032..139697132-chr6:140304590..140307276,4	MCF-7	breast:
5	chr6:140303056..140305268-chr6:140307414..140309226,2	K562	blood:
6	chr6:140299794..140302085-chr6:140302801..140306484,3	K562	blood:
7	chr6:140291815..140294274-chr6:140303049..140305531,2	K562	blood:
8	chr6:140303154..140305947-chr6:140324733..140327620,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000164442	Chromatin interaction

Extended variants
information (count: 94 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:92)

rs_ID	r²[population]
rs10499217	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10499218	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11751210	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11753982	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11754152	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11754864	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11755397	0.97[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11758188	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11758612	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11758718	0.92[EUR][1000 genomes]
rs11759030	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1324127	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1324129	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13437498	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1361247	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1582145	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17069692	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17214668	0.89[EUR][1000 genomes]
rs17755520	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17755892	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17756503	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17756562	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17756688	0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17811661	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs17811691	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17811871	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17812354	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17812384	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17812480	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17812617	0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17812647	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17812736	0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1933741	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs201279	0.89[EUR][1000 genomes]
rs201280	0.90[EUR][1000 genomes]
rs35441484	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs477737	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4895580	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4895581	0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4896502	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4896504	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4896505	0.87[EUR][1000 genomes]
rs4896506	0.87[EUR][1000 genomes]
rs496953	0.89[EUR][1000 genomes]
rs55732492	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55738757	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55834276	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs55902158	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs55907136	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56022257	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56030520	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs56202454	0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56296431	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs58650930	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs593265	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs59665575	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs597854	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs608185	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs615587	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs638899	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs645740	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs656337	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs656363	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs657276	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs659714	0.92[EUR][1000 genomes]
rs661507	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs671038	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs6925609	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs72975808	0.89[EUR][1000 genomes]
rs72975814	0.87[EUR][1000 genomes]
rs72988720	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72988721	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72988724	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72988734	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72988736	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72988741	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72988745	0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72988750	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72988752	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72988753	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72988755	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72988756	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72988758	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72988759	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72988761	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72990622	0.95[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs72990629	0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7769264	0.92[EUR][1000 genomes]
rs9484333	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9495619	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9495621	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs953112	0.97[EUR][1000 genomes];0.89[ASN][1000 genomes]

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	nsv869066	chr6:139777114-140639695	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
2	nsv1016532	chr6:140174639-141029988	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:140292600-140306000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr6:140297400-140305800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr6:140298200-140305600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr6:140298200-140306200	Enhancers	Hela-S3	cervix
5	chr6:140298800-140305800	Enhancers	Osteobl	bone
6	chr6:140298800-140306000	Enhancers	NHLF	lung
7	chr6:140300400-140305200	Enhancers	Fetal Kidney	kidney
8	chr6:140300400-140305600	Enhancers	Fetal Heart	heart
9	chr6:140300600-140305600	Enhancers	NH-A	brain
10	chr6:140300600-140305800	Enhancers	HSMM	muscle
11	chr6:140300600-140306600	Enhancers	Placenta	Placenta
12	chr6:140300800-140305200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr6:140300800-140305800	Enhancers	HSMMtube	muscle
14	chr6:140301000-140306200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr6:140301000-140306200	Enhancers	NHDF-Ad	bronchial
16	chr6:140301600-140305400	Enhancers	Fetal Intestine Small	intestine
17	chr6:140301800-140305600	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr6:140301800-140305600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr6:140301800-140305600	Enhancers	HMEC	breast
20	chr6:140302000-140305200	Enhancers	Adipose Nuclei	Adipose
21	chr6:140302000-140305400	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr6:140302000-140305800	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr6:140302400-140305200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr6:140302600-140305000	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr6:140302600-140305000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr6:140302600-140305600	Enhancers	Fetal Lung	lung
27	chr6:140302600-140306200	Enhancers	Fetal Intestine Large	intestine
28	chr6:140302800-140305200	Enhancers	Fetal Stomach	stomach
29	chr6:140302800-140311000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr6:140303200-140305000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr6:140303200-140305000	Weak transcription	Ovary	ovary
32	chr6:140303400-140305000	Enhancers	ES-I3 Cell Line	embryonic stem cell
33	chr6:140303400-140305000	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr6:140303400-140305000	Enhancers	Rectal Mucosa Donor 29	rectum
35	chr6:140303400-140305200	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr6:140303400-140305400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr6:140303400-140305400	Enhancers	Colon Smooth Muscle	Colon
38	chr6:140303400-140305400	Enhancers	Duodenum Smooth Muscle	Duodenum
39	chr6:140303400-140305600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr6:140303400-140305600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr6:140303600-140305000	Enhancers	iPS-20b Cell Line	embryonic stem cell
42	chr6:140303600-140305600	Enhancers	Aorta	Aorta
43	chr6:140303600-140305600	Enhancers	Rectal Smooth Muscle	rectum
44	chr6:140303800-140305000	Enhancers	Fetal Brain Female	brain
45	chr6:140304200-140305000	Weak transcription	K562	blood
46	chr6:140304200-140305200	Weak transcription	Right Atrium	heart
47	chr6:140304200-140305600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr6:140304200-140305800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr6:140304200-140310600	Weak transcription	Small Intestine	intestine
50	chr6:140304200-140311200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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