Variant report

Variant	rs60044566
Chromosome Location	chr6:110514246-110514247
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:110506447..110509996-chr6:110510060..110514287,5	K562	blood:
2	chr6:110506402..110508834-chr6:110513795..110516786,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs2061651	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59423080	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59891410	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60759666	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61079805	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73533838	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73533841	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs73533842	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73535805	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73535808	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73535818	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73535832	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73535839	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73535843	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73537907	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73537910	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73537914	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73537947	0.96[AFR][1000 genomes];1.00[AMR][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	nsv886535	chr6:110377006-110551463	Strong transcription Genic enhancers Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	esv1792799	chr6:110411065-110566597	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv948824	chr6:110443685-110889332	Enhancers Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	esv1801843	chr6:110506109-110566328	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:110502600-110515000	Weak transcription	Fetal Muscle Trunk	muscle
2	chr6:110502600-110533200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr6:110502600-110536600	Weak transcription	Esophagus	oesophagus
4	chr6:110502800-110533400	Weak transcription	HSMMtube	muscle
5	chr6:110503200-110514800	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr6:110503200-110515000	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr6:110503200-110531400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr6:110503200-110533400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr6:110503400-110515000	Weak transcription	Placenta	Placenta
10	chr6:110503400-110515000	Weak transcription	NH-A	brain
11	chr6:110503400-110530600	Weak transcription	Fetal Kidney	kidney
12	chr6:110503400-110536600	Weak transcription	Gastric	stomach
13	chr6:110503600-110514400	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr6:110503600-110514400	Weak transcription	Cortex derived primary cultured neurospheres	brain
15	chr6:110503600-110514400	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr6:110503600-110515200	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr6:110503800-110515400	Weak transcription	Fetal Intestine Large	intestine
18	chr6:110503800-110532800	Weak transcription	Rectal Smooth Muscle	rectum
19	chr6:110503800-110533400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr6:110504200-110514400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr6:110504400-110514800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr6:110504400-110536600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr6:110504600-110514400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr6:110504600-110519400	Weak transcription	Fetal Intestine Small	intestine
25	chr6:110504600-110532400	Weak transcription	HMEC	breast
26	chr6:110504600-110536600	Weak transcription	Fetal Stomach	stomach
27	chr6:110504800-110514400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr6:110504800-110514400	Weak transcription	Fetal Thymus	thymus
29	chr6:110504800-110514800	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr6:110504800-110531400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
31	chr6:110504800-110531600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr6:110504800-110531800	Weak transcription	Fetal Brain Male	brain
33	chr6:110504800-110533400	Weak transcription	Fetal Muscle Leg	muscle
34	chr6:110504800-110533400	Weak transcription	NHEK	skin
35	chr6:110504800-110536600	Weak transcription	Pancreas	Pancrea
36	chr6:110504800-110536600	Weak transcription	Spleen	Spleen
37	chr6:110505000-110514400	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr6:110505000-110514800	Weak transcription	Fetal Brain Female	brain
39	chr6:110505000-110522200	Weak transcription	K562	blood
40	chr6:110505200-110528800	Weak transcription	NHLF	lung
41	chr6:110505400-110532600	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr6:110505600-110515000	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr6:110505600-110515000	Weak transcription	A549	lung
44	chr6:110505600-110532200	Weak transcription	Hela-S3	cervix
45	chr6:110506000-110528800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr6:110506000-110532800	Weak transcription	Brain Substantia Nigra	brain
47	chr6:110506400-110514800	Weak transcription	Adipose Nuclei	Adipose
48	chr6:110506400-110515000	Weak transcription	Fetal Lung	lung
49	chr6:110507400-110515000	Weak transcription	Duodenum Mucosa	Duodenum
50	chr6:110507400-110515000	Weak transcription	Dnd41	blood

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