Variant report

Variant	rs571565
Chromosome Location	chr6:44398459-44398460
allele	C/T
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:5)
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	CEBPB	chr6:44398209-44398460	IMR90	lung:	n/a	n/a
2	POLR2A	chr6:44398327-44398560	ProgFib	skin:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr6:44396473..44398052-chr6:44398079..44400521,2	K562	blood:
2	chr6:44391748..44393635-chr6:44395811..44398462,2	MCF-7	breast:
3	chr6:44397467..44399070-chr6:44423188..44424780,2	K562	blood:
4	chr6:44387232..44389973-chr6:44398026..44400145,2	K562	blood:
5	chr6:44397217..44399070-chr6:44421997..44424688,3	K562	blood:

No data

Variant related genes	Relation type
MIR4642	TF binding region

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

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1293207	0.95[AFR][1000 genomes]
rs1293209	1.00[AFR][1000 genomes]
rs1952980	1.00[AFR][1000 genomes]
rs2754769	0.95[AFR][1000 genomes]
rs2894571	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36064417	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4714786	1.00[AFR][1000 genomes]
rs487711	1.00[AFR][1000 genomes]
rs490814	0.86[AFR][1000 genomes]
rs6458383	0.91[AFR][1000 genomes]
rs6458384	1.00[AFR][1000 genomes]
rs6458385	1.00[AFR][1000 genomes]
rs6908640	1.00[AFR][1000 genomes]
rs7757621	1.00[AFR][1000 genomes]
rs856597	0.95[AFR][1000 genomes]
rs856598	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9462986	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019145	chr6:44313576-44421440	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv885858	chr6:44385441-44421240	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv885859	chr6:44385441-44422466	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv517370	chr6:44385441-44422689	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	esv1850024	chr6:44388505-44422689	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:44358400-44403800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
2	chr6:44376800-44424400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr6:44385200-44403200	Weak transcription	Gastric	stomach
4	chr6:44386600-44409200	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr6:44386800-44398800	Strong transcription	Rectal Mucosa Donor 29	rectum
6	chr6:44386800-44402600	Strong transcription	HUES64 Cell Line	embryonic stem cell
7	chr6:44386800-44402600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr6:44386800-44402800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr6:44386800-44404200	Strong transcription	Fetal Thymus	thymus
10	chr6:44386800-44405000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
11	chr6:44386800-44406400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr6:44386800-44408800	Strong transcription	Primary B cells from peripheral blood	blood
13	chr6:44387000-44398600	Strong transcription	Adipose Nuclei	Adipose
14	chr6:44387000-44398800	Strong transcription	Duodenum Smooth Muscle	Duodenum
15	chr6:44387000-44398800	Strong transcription	Fetal Muscle Trunk	muscle
16	chr6:44387000-44398800	Strong transcription	Rectal Mucosa Donor 31	rectum
17	chr6:44387000-44400600	Strong transcription	HUES48 Cell Line	embryonic stem cell
18	chr6:44387000-44401600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
19	chr6:44387000-44401600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
20	chr6:44387000-44402400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr6:44387000-44402600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr6:44387000-44402600	Strong transcription	Placenta	Placenta
23	chr6:44387000-44402800	Strong transcription	Primary T helper cells fromperipheralblood	blood
24	chr6:44387000-44403400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr6:44387000-44403600	Strong transcription	Primary T helper cells PMA-I stimulated	--
26	chr6:44387000-44405000	Strong transcription	Primary T cells fromperipheralblood	blood
27	chr6:44387000-44405400	Strong transcription	Primary hematopoietic stem cells	blood
28	chr6:44387000-44408000	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr6:44387200-44402800	Strong transcription	Primary B cells from cord blood	blood
30	chr6:44387400-44403800	Strong transcription	Dnd41	blood
31	chr6:44387600-44408600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr6:44388400-44424400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr6:44388800-44403200	Weak transcription	Pancreas	Pancrea
34	chr6:44388800-44409800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr6:44390000-44404600	Weak transcription	Stomach Mucosa	stomach
36	chr6:44390200-44401800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr6:44390200-44402200	Strong transcription	Primary neutrophils fromperipheralblood	blood
38	chr6:44390200-44409600	Weak transcription	Spleen	Spleen
39	chr6:44390200-44420200	Weak transcription	Brain Cingulate Gyrus	brain
40	chr6:44390400-44403400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr6:44390600-44398600	Strong transcription	Sigmoid Colon	Sigmoid Colon
42	chr6:44390600-44398800	Strong transcription	Fetal Intestine Large	intestine
43	chr6:44391400-44400200	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr6:44391800-44399400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr6:44391800-44409800	Weak transcription	Aorta	Aorta
46	chr6:44391800-44412600	Weak transcription	Brain Hippocampus Middle	brain
47	chr6:44392000-44398800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr6:44392800-44403200	Weak transcription	Psoas Muscle	Psoas
49	chr6:44392800-44407000	Weak transcription	Ovary	ovary
50	chr6:44392800-44411800	Weak transcription	Esophagus	oesophagus

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