Variant report

Variant	rs62384855
Chromosome Location	chr6:4780406-4780407
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:5)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:5 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EGR1	chr6:4780330-4780972	K562	blood:	n/a	n/a
2	EGR1	chr6:4780368-4780759	MCF-7	breast:	n/a	n/a
3	RPC155	chr6:4780174-4780916	Hela-S3	cervix:	n/a	n/a
4	EGR1	chr6:4780367-4780912	K562	blood:	n/a	n/a
5	ZNF384	chr6:4780354-4780593	K562	blood:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:4773447..4776687-chr6:4777915..4782551,4	MCF-7	breast:
2	chr6:4780165..4781878-chr6:4793453..4796375,2	MCF-7	breast:
3	chr6:4779066..4782355-chr6:4795807..4798992,3	K562	blood:
4	chr6:4488845..4492110-chr6:4777740..4781440,3	MCF-7	breast:
5	chr6:4778081..4781516-chr6:4787216..4791667,5	MCF-7	breast:
6	chr6:4778862..4780969-chr6:4783105..4785943,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000236336	TF binding region
ENSG00000236336	Chromatin interaction
ENSG00000260239	Chromatin interaction
ENSG00000153046	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	0.90[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]
rs62384852	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62384853	0.91[EUR][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:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:4777800-4783600	Weak transcription	Lung	lung
2	chr6:4777800-4789000	Weak transcription	Pancreas	Pancrea
3	chr6:4778000-4782400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr6:4778200-4781000	Weak transcription	Osteobl	bone
5	chr6:4778200-4781400	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr6:4778200-4781600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr6:4778200-4785000	Weak transcription	Psoas Muscle	Psoas
8	chr6:4778200-4787000	Weak transcription	Thymus	Thymus
9	chr6:4778400-4780800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr6:4778400-4780800	Weak transcription	Muscle Satellite Cultured Cells	--
11	chr6:4778400-4780800	Weak transcription	Brain Angular Gyrus	brain
12	chr6:4778400-4780800	Weak transcription	Colon Smooth Muscle	Colon
13	chr6:4778400-4781000	Weak transcription	Fetal Kidney	kidney
14	chr6:4778400-4781200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr6:4778400-4781200	Weak transcription	Brain Cingulate Gyrus	brain
16	chr6:4778400-4781400	Weak transcription	Brain Substantia Nigra	brain
17	chr6:4778400-4781400	Weak transcription	Duodenum Mucosa	Duodenum
18	chr6:4778400-4781400	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr6:4778400-4781400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr6:4778400-4781400	Weak transcription	Right Ventricle	heart
21	chr6:4778400-4782000	Weak transcription	Placenta	Placenta
22	chr6:4778400-4782200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr6:4778400-4782400	Enhancers	Rectal Mucosa Donor 31	rectum
24	chr6:4778400-4782600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
25	chr6:4778400-4783000	Enhancers	Primary T helper cells PMA-I stimulated	--
26	chr6:4778400-4785000	Weak transcription	Left Ventricle	heart
27	chr6:4778400-4785000	Weak transcription	Spleen	Spleen
28	chr6:4778400-4787000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr6:4778400-4787000	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr6:4778400-4787000	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr6:4778400-4789000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr6:4778400-4789600	Weak transcription	Stomach Smooth Muscle	stomach
33	chr6:4778400-4790000	Weak transcription	Stomach Mucosa	stomach
34	chr6:4778600-4780800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr6:4778600-4780800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr6:4778600-4780800	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr6:4778600-4781400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
38	chr6:4778600-4781400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr6:4778600-4781400	Weak transcription	Brain Hippocampus Middle	brain
40	chr6:4778600-4781400	Weak transcription	Fetal Lung	lung
41	chr6:4778600-4788800	Weak transcription	Adipose Nuclei	Adipose
42	chr6:4778600-4790000	Weak transcription	Rectal Smooth Muscle	rectum
43	chr6:4778800-4780600	Flanking Active TSS	GM12878-XiMat	blood
44	chr6:4778800-4780800	Weak transcription	NHLF	lung
45	chr6:4778800-4781000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr6:4778800-4781400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr6:4778800-4782400	Weak transcription	Fetal Heart	heart
48	chr6:4779000-4780600	Enhancers	HepG2	liver
49	chr6:4779000-4781200	Weak transcription	Monocytes-CD14+_RO01746	blood
50	chr6:4779200-4781200	Weak transcription	Primary T helper naive cells from peripheral blood	blood

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