Variant report

Variant	rs715844
Chromosome Location	chr4:75186254-75186255
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:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr4:75185069..75187817-chr4:75594549..75599298,4	MCF-7	breast:
2	chr4:75186018..75191874-chr4:75238287..75242590,7	MCF-7	breast:
3	chr4:75184279..75188446-chr4:75594088..75602141,9	MCF-7	breast:
4	chr4:75184628..75186278-chr4:75573620..75576234,2	K562	blood:
5	chr4:75182418..75184438-chr4:75184845..75186853,2	K562	blood:
6	chr4:75184788..75188448-chr4:75240732..75243292,5	MCF-7	breast:
7	chr4:75184159..75187825-chr4:75548477..75550130,4	MCF-7	breast:
8	chr4:75184705..75187953-chr4:75546623..75549644,3	MCF-7	breast:
9	chr4:75185909..75186804-chr4:75600613..75601656,4	MCF-7	breast:
10	chr4:75185920..75186462-chr4:75600874..75601511,2	K562	blood:
11	chr4:75185936..75187099-chr4:75596010..75596904,4	K562	blood:
12	chr4:75186062..75186814-chr4:75242150..75242841,2	MCF-7	breast:
13	chr4:75186239..75186830-chr4:75236648..75237330,2	MCF-7	breast:
14	chr4:75186240..75186760-chr4:75596073..75596853,2	MCF-7	breast:
15	chr4:75186151..75186877-chr4:75548272..75548823,2	MCF-7	breast:
16	chr4:75185886..75186591-chr4:75397266..75397966,2	K562	blood:
17	chr4:75181467..75184781-chr4:75184845..75186626,3	K562	blood:
18	chr4:75184855..75186836-chr4:75508740..75510695,2	MCF-7	breast:
19	chr4:75184694..75186462-chr4:75506531..75508249,2	MCF-7	breast:
20	chr1:7427515..7428303-chr4:75186006..75186506,2	MCF-7	breast:
21	chr4:75185456..75188448-chr4:75321032..75323614,2	MCF-7	breast:
22	chr4:75024456..75026319-chr4:75184021..75186282,2	K562	blood:

No data

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10009707	0.83[EUR][1000 genomes]
rs10010575	1.00[CEU][hapmap];0.88[JPT][hapmap];0.85[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10017409	0.85[EUR][1000 genomes]
rs10023519	0.82[EUR][1000 genomes]
rs10026687	0.82[EUR][1000 genomes]
rs10028285	0.86[EUR][1000 genomes]
rs1037824	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11942725	0.91[CEU][hapmap];0.90[EUR][1000 genomes]
rs16850862	0.85[EUR][1000 genomes]
rs16850883	0.94[CEU][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16850941	0.90[CEU][hapmap];0.90[EUR][1000 genomes]
rs17232394	0.82[EUR][1000 genomes]
rs17829765	0.91[CEU][hapmap];0.90[EUR][1000 genomes]
rs2045616	0.82[CEU][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2045617	0.82[CEU][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2061508	0.82[EUR][1000 genomes]
rs28539097	0.83[EUR][1000 genomes]
rs28644493	0.83[EUR][1000 genomes]
rs4502653	0.82[EUR][1000 genomes]
rs58813617	0.94[EUR][1000 genomes]
rs62312545	0.81[EUR][1000 genomes]
rs6446983	0.81[EUR][1000 genomes]
rs6446984	0.84[EUR][1000 genomes]
rs6446985	0.84[EUR][1000 genomes]
rs6814880	0.82[CEU][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6819605	0.85[EUR][1000 genomes]
rs6820992	0.83[CEU][hapmap];1.00[JPT][hapmap];0.81[YRI][hapmap];0.86[AFR][1000 genomes];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6821664	0.81[EUR][1000 genomes]
rs6835734	0.82[CEU][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6854723	0.81[EUR][1000 genomes]
rs7659389	0.83[EUR][1000 genomes]
rs7663269	0.95[CEU][hapmap];0.93[EUR][1000 genomes]
rs7665105	0.83[EUR][1000 genomes]
rs7670535	0.81[EUR][1000 genomes]
rs7672588	0.83[EUR][1000 genomes]
rs7680463	0.91[CEU][hapmap];0.90[EUR][1000 genomes]
rs9997322	0.81[EUR][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	nsv525980	chr4:74731526-75382209	Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1009099	chr4:75089233-75726206	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:75175000-75186400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr4:75175600-75186600	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr4:75175600-75189000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
4	chr4:75176800-75186600	Weak transcription	Esophagus	oesophagus
5	chr4:75184600-75187000	Enhancers	Hela-S3	cervix
6	chr4:75185200-75186600	Enhancers	NHDF-Ad	bronchial
7	chr4:75185200-75187600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr4:75185400-75186400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr4:75185400-75186600	Enhancers	Fetal Heart	heart
10	chr4:75185400-75187000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr4:75185400-75187600	Enhancers	HMEC	breast
12	chr4:75185600-75186600	Enhancers	Osteobl	bone
13	chr4:75185800-75186800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr4:75185800-75186800	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr4:75185800-75187000	Enhancers	ES-I3 Cell Line	embryonic stem cell
16	chr4:75185800-75188000	Enhancers	Primary hematopoietic stem cells	blood
17	chr4:75186000-75186400	Enhancers	iPS-18 Cell Line	embryonic stem cell
18	chr4:75186000-75186400	Active TSS	A549	lung
19	chr4:75186000-75186800	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr4:75186000-75186800	Enhancers	NHLF	lung
21	chr4:75186000-75192000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr4:75186200-75186400	Enhancers	HUES6 Cell Line	embryonic stem cell
23	chr4:75186200-75186400	Enhancers	Dnd41	blood
24	chr4:75186200-75186400	Enhancers	K562	blood
25	chr4:75186200-75186600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr4:75186200-75186600	Enhancers	Brain Hippocampus Middle	brain
27	chr4:75186200-75186800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr4:75186200-75186800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr4:75186200-75186800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr4:75186200-75186800	Enhancers	Fetal Intestine Small	intestine
31	chr4:75186200-75186800	Enhancers	Pancreas	Pancrea
32	chr4:75186200-75186800	Enhancers	NH-A	brain
33	chr4:75186200-75186800	Flanking Active TSS	NHEK	skin
34	chr4:75186200-75187000	Enhancers	Stomach Mucosa	stomach

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