Variant report

Variant	rs6822060
Chromosome Location	chr4:78069665-78069666
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:77996103..77998290-chr4:78066970..78070859,4	MCF-7	breast:
2	chr4:77994701..77998612-chr4:78066098..78069979,6	MCF-7	breast:
3	chr4:77995679..77998060-chr4:78068555..78071849,3	K562	blood:
4	chr4:78066677..78070110-chr4:78071509..78075152,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000118816	Chromatin interaction
ENSG00000201641	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs13108325	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13115931	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs17397736	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs17397972	0.88[EUR][1000 genomes]
rs17398028	1.00[CEU][hapmap];0.91[TSI][hapmap];0.88[EUR][1000 genomes]
rs34171188	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs34623364	0.88[EUR][1000 genomes]
rs34757592	0.88[EUR][1000 genomes]
rs34820788	0.86[ASN][1000 genomes]
rs35974904	0.80[ASN][1000 genomes]
rs36045205	0.88[EUR][1000 genomes]
rs4150031	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.91[TSI][hapmap];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4150044	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4150052	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.86[ASN][1000 genomes]
rs4150067	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4150084	1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];0.86[ASN][1000 genomes]
rs4150090	0.86[ASN][1000 genomes]
rs4343750	0.81[EUR][1000 genomes]
rs59493111	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6816591	1.00[CEU][hapmap];0.82[MEX][hapmap];0.82[TSI][hapmap];0.88[EUR][1000 genomes]
rs71607401	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs71609303	0.86[ASN][1000 genomes]
rs729239	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs729241	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7655142	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7657629	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7659891	0.87[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	nsv879500	chr4:78045960-78115334	Genic enhancers Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:78066400-78069800	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr4:78067400-78073400	Weak transcription	GM12878-XiMat	blood
3	chr4:78067600-78070000	Enhancers	Monocytes-CD14+_RO01746	blood
4	chr4:78067600-78073600	Weak transcription	Placenta	Placenta
5	chr4:78067800-78073200	Weak transcription	HUES6 Cell Line	embryonic stem cell
6	chr4:78067800-78073400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr4:78067800-78077600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr4:78068000-78070400	Enhancers	Primary neutrophils fromperipheralblood	blood
9	chr4:78068000-78076000	Weak transcription	HMEC	breast
10	chr4:78068200-78070800	Weak transcription	Small Intestine	intestine
11	chr4:78068200-78073400	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr4:78068200-78073400	Weak transcription	Thymus	Thymus
13	chr4:78068200-78073600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
14	chr4:78068200-78073600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr4:78068200-78073600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr4:78068200-78073600	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr4:78068200-78073600	Weak transcription	Stomach Mucosa	stomach
18	chr4:78068200-78073800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr4:78068200-78075200	Weak transcription	NHEK	skin
20	chr4:78068400-78072000	Weak transcription	Primary B cells from peripheral blood	blood
21	chr4:78068600-78072400	Weak transcription	Primary B cells from cord blood	blood
22	chr4:78068600-78073200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr4:78068600-78073200	Weak transcription	Fetal Lung	lung
24	chr4:78068600-78073400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr4:78068600-78075800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
26	chr4:78068600-78076600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr4:78068800-78073200	Weak transcription	Primary T cells from cord blood	blood
28	chr4:78068800-78073400	Weak transcription	Fetal Kidney	kidney
29	chr4:78068800-78074000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr4:78068800-78074600	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr4:78069000-78073400	Weak transcription	Primary hematopoietic stem cells	blood
32	chr4:78069200-78072400	Weak transcription	Fetal Thymus	thymus
33	chr4:78069200-78073400	Weak transcription	Fetal Intestine Large	intestine
34	chr4:78069200-78073400	Weak transcription	Placenta Amnion	Placenta Amnion
35	chr4:78069200-78073600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr4:78069200-78074000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr4:78069200-78077400	Weak transcription	HSMMtube	muscle
38	chr4:78069400-78073400	Weak transcription	Fetal Intestine Small	intestine
39	chr4:78069400-78073600	Weak transcription	Duodenum Mucosa	Duodenum
40	chr4:78069400-78073800	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr4:78069400-78074200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr4:78069400-78076400	Weak transcription	Hela-S3	cervix

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