Variant report

Variant	rs62384852
Chromosome Location	chr6:4779527-4779528
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EBF1	chr6:4779472-4779798	GM12878	blood:	n/a	n/a
2	NFATC1	chr6:4779183-4779674	GM12878	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:4773447..4776687-chr6:4777915..4782551,4	MCF-7	breast:
2	chr6:4779066..4782355-chr6:4795807..4798992,3	K562	blood:
3	chr6:4488845..4492110-chr6:4777740..4781440,3	MCF-7	breast:
4	chr6:4775727..4780301-chr6:4925378..4930668,5	K562	blood:
5	chr6:4778081..4781516-chr6:4787216..4791667,5	MCF-7	breast:
6	chr6:4778862..4780969-chr6:4783105..4785943,3	MCF-7	breast:
7	chr6:4777710..4780092-chr6:4801744..4804702,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000236336	TF binding region
ENSG00000153046	Chromatin interaction
ENSG00000236336	Chromatin interaction
ENSG00000260239	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs17138843	0.87[AFR][1000 genomes]
rs58544878	0.82[EUR][1000 genomes]
rs60731840	0.91[EUR][1000 genomes]
rs62384841	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs62384844	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs62384845	0.81[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs62384848	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62384849	0.81[EUR][1000 genomes]
rs62384853	0.91[EUR][1000 genomes]
rs62384855	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6921417	0.93[EUR][1000 genomes]
rs6922125	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7752474	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9502236	0.80[EUR][1000 genomes]
rs9502237	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3366530	chr6:4471528-4865322	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	esv3429586	chr6:4719363-4792438	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1023527	chr6:4729592-5387176	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	esv2422499	chr6:4745428-5073222	Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:4777800-4780200	Weak transcription	Gastric	stomach
2	chr6:4777800-4783600	Weak transcription	Lung	lung
3	chr6:4777800-4789000	Weak transcription	Pancreas	Pancrea
4	chr6:4778000-4779800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr6:4778000-4780400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr6:4778000-4782400	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr6:4778200-4780000	Enhancers	Primary T helper cells fromperipheralblood	blood
8	chr6:4778200-4780000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
9	chr6:4778200-4780200	Enhancers	Primary B cells from peripheral blood	blood
10	chr6:4778200-4780200	Weak transcription	Ovary	ovary
11	chr6:4778200-4781000	Weak transcription	Osteobl	bone
12	chr6:4778200-4781400	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr6:4778200-4781600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr6:4778200-4785000	Weak transcription	Psoas Muscle	Psoas
15	chr6:4778200-4787000	Weak transcription	Thymus	Thymus
16	chr6:4778400-4779600	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr6:4778400-4780200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
18	chr6:4778400-4780200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr6:4778400-4780400	Weak transcription	Small Intestine	intestine
20	chr6:4778400-4780800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr6:4778400-4780800	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr6:4778400-4780800	Weak transcription	Brain Angular Gyrus	brain
23	chr6:4778400-4780800	Weak transcription	Colon Smooth Muscle	Colon
24	chr6:4778400-4781000	Weak transcription	Fetal Kidney	kidney
25	chr6:4778400-4781200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr6:4778400-4781200	Weak transcription	Brain Cingulate Gyrus	brain
27	chr6:4778400-4781400	Weak transcription	Brain Substantia Nigra	brain
28	chr6:4778400-4781400	Weak transcription	Duodenum Mucosa	Duodenum
29	chr6:4778400-4781400	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr6:4778400-4781400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr6:4778400-4781400	Weak transcription	Right Ventricle	heart
32	chr6:4778400-4782000	Weak transcription	Placenta	Placenta
33	chr6:4778400-4782200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr6:4778400-4782400	Enhancers	Rectal Mucosa Donor 31	rectum
35	chr6:4778400-4782600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
36	chr6:4778400-4783000	Enhancers	Primary T helper cells PMA-I stimulated	--
37	chr6:4778400-4785000	Weak transcription	Left Ventricle	heart
38	chr6:4778400-4785000	Weak transcription	Spleen	Spleen
39	chr6:4778400-4787000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
40	chr6:4778400-4787000	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr6:4778400-4787000	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr6:4778400-4789000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr6:4778400-4789600	Weak transcription	Stomach Smooth Muscle	stomach
44	chr6:4778400-4790000	Weak transcription	Stomach Mucosa	stomach
45	chr6:4778600-4779600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
46	chr6:4778600-4779800	Enhancers	Hela-S3	cervix
47	chr6:4778600-4780000	ZNF genes & repeats	NHEK	skin
48	chr6:4778600-4780200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr6:4778600-4780400	Weak transcription	Rectal Mucosa Donor 29	rectum
50	chr6:4778600-4780800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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