Variant report

Variant	rs60704560
Chromosome Location	chr6:33713300-33713301
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: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	chr6:33710698..33713860-chr6:33753568..33757560,4	MCF-7	breast:
2	chr6:33706241..33709561-chr6:33709640..33714031,4	MCF-7	breast:
3	chr6:33700581..33702116-chr6:33711630..33713944,2	K562	blood:
4	chr6:33712841..33714419-chr6:33746721..33749211,2	K562	blood:
5	chr6:33711726..33713871-chr6:33755985..33757617,2	K562	blood:
6	chr6:33711077..33714000-chr6:33723904..33727038,3	MCF-7	breast:
7	chr6:33712629..33714583-chr6:33734231..33736589,2	MCF-7	breast:
8	chr6:33704170..33706056-chr6:33712043..33713593,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000161904	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs1014933	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10947430	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10947434	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs10947435	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1555965	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2147656	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2147657	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs2274458	0.88[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2281829	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2296738	0.83[AMR][1000 genomes]
rs2296739	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2296741	0.82[AMR][1000 genomes]
rs28651968	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2966	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3227	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3818521	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3818524	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3818527	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs3818530	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4711336	0.82[AMR][1000 genomes]
rs4711339	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs4711340	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4711343	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4713655	0.87[AMR][1000 genomes]
rs4713659	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4713660	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs4713661	0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4713662	0.80[AFR][1000 genomes];0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs4713663	0.82[AFR][1000 genomes]
rs4713665	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4713666	0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4713667	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4713669	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4713670	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4713671	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4713672	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4713674	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4713675	0.80[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs509539	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs560111	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6457739	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6904816	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6916949	0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6917140	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs6928010	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6938056	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs749338	0.83[AMR][1000 genomes]
rs749847	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs753890	0.84[AMR][1000 genomes]
rs7739505	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7759668	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7770465	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs791902	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs791903	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9348924	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9348925	0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9366828	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs9368773	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs9368776	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9380375	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9394163	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs942640	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs942643	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs9469566	0.86[AMR][1000 genomes];0.83[EUR][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	nsv885772	chr6:33638180-33767727	Bivalent Enhancer Genic enhancers Strong transcription Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:33706600-33715800	Enhancers	Fetal Intestine Large	intestine
2	chr6:33707400-33714000	Weak transcription	Spleen	Spleen
3	chr6:33710600-33715200	Enhancers	Breast Myoepithelial Primary Cells	Breast
4	chr6:33710800-33714200	Enhancers	Pancreas	Pancrea
5	chr6:33710800-33716600	Active TSS	Psoas Muscle	Psoas
6	chr6:33711200-33713600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
7	chr6:33711200-33715600	Enhancers	Fetal Intestine Small	intestine
8	chr6:33711600-33713800	Enhancers	Placenta	Placenta
9	chr6:33711600-33714000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
10	chr6:33711600-33714200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr6:33711800-33713800	Enhancers	HUES6 Cell Line	embryonic stem cell
12	chr6:33711800-33713800	Enhancers	Colonic Mucosa	Colon
13	chr6:33711800-33713800	Bivalent Enhancer	Stomach Smooth Muscle	stomach
14	chr6:33711800-33714400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr6:33711800-33714600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr6:33711800-33714600	Enhancers	NHEK	skin
17	chr6:33711800-33715000	Active TSS	Left Ventricle	heart
18	chr6:33711800-33715200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr6:33711800-33715600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
20	chr6:33711800-33715800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr6:33712000-33713400	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr6:33712000-33713600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr6:33712000-33713800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr6:33712000-33714000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr6:33712000-33714400	Enhancers	Placenta Amnion	Placenta Amnion
26	chr6:33712000-33714600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr6:33712000-33714600	Enhancers	iPS-20b Cell Line	embryonic stem cell
28	chr6:33712000-33715000	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr6:33712000-33715400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
30	chr6:33712000-33717000	Enhancers	H1 Cell Line	embryonic stem cell
31	chr6:33712000-33717800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr6:33712200-33713600	Enhancers	Duodenum Smooth Muscle	Duodenum
33	chr6:33712200-33713800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr6:33712200-33714400	Enhancers	Rectal Mucosa Donor 31	rectum
35	chr6:33712200-33714800	Enhancers	Fetal Stomach	stomach
36	chr6:33712200-33714800	Active TSS	Right Atrium	heart
37	chr6:33712200-33715200	Enhancers	NHLF	lung
38	chr6:33712400-33713400	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr6:33712400-33713400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr6:33712400-33713600	Enhancers	Liver	Liver
41	chr6:33712400-33713800	Enhancers	Fetal Kidney	kidney
42	chr6:33712400-33713800	Enhancers	Fetal Lung	lung
43	chr6:33712400-33713800	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
44	chr6:33712400-33714000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr6:33712400-33714200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr6:33712400-33714200	Enhancers	Sigmoid Colon	Sigmoid Colon
47	chr6:33712400-33714400	Enhancers	Cortex derived primary cultured neurospheres	brain
48	chr6:33712400-33714600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr6:33712400-33714800	Active TSS	Right Ventricle	heart
50	chr6:33712400-33714800	Enhancers	A549	lung

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