Variant report

Variant	rs57666381
Chromosome Location	chr6:150069384-150069385
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr6:150069231-150069389	HepG2	liver:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:150038744..150042586-chr6:150067819..150072874,7	K562	blood:
2	chr6:149967586..149970977-chr6:150068764..150072371,6	K562	blood:
3	chr6:150067770..150069561-chr6:150184088..150185718,2	MCF-7	breast:
4	chr6:149865412..149868638-chr6:150066732..150070347,4	K562	blood:
5	chr6:150068048..150069727-chr6:150083156..150084821,2	MCF-7	breast:
6	chr6:150036817..150045008-chr6:150066563..150073628,17	MCF-7	breast:
7	chr6:149864573..149867229-chr6:150066856..150070071,3	K562	blood:
8	chr6:150067696..150070482-chr6:150117638..150119336,2	K562	blood:

No data

Variant related genes	Relation type
NUP43	TF binding region
PCMT1	TF binding region
ENSG00000120256	Chromatin interaction
ENSG00000186625	Chromatin interaction
ENSG00000231760	Chromatin interaction
ENSG00000268592	Chromatin interaction
ENSG00000131013	Chromatin interaction
ENSG00000131023	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs9397301	0.82[ASN][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	nsv886762	chr6:149866452-150174507	Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	esv1792620	chr6:149909491-150083621	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	esv3475167	chr6:150003006-150086225	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	esv3475168	chr6:150003006-150086225	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	esv1803291	chr6:150018508-150164190	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:150067800-150070400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr6:150067800-150070600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr6:150067800-150070600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr6:150067800-150070600	Weak transcription	Gastric	stomach
5	chr6:150067800-150070800	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr6:150068000-150070000	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr6:150068000-150070000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr6:150068000-150070000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr6:150068000-150070000	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr6:150068000-150070000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr6:150068000-150070000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr6:150068000-150070000	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr6:150068000-150070000	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr6:150068000-150070000	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr6:150068000-150070000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr6:150068000-150070000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr6:150068000-150070000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr6:150068000-150070000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr6:150068000-150070000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr6:150068000-150070000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr6:150068000-150070000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr6:150068000-150070000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr6:150068000-150070000	Weak transcription	Brain Germinal Matrix	brain
24	chr6:150068000-150070000	Weak transcription	Colonic Mucosa	Colon
25	chr6:150068000-150070000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr6:150068000-150070000	Weak transcription	Fetal Brain Female	brain
27	chr6:150068000-150070000	Weak transcription	Pancreatic Islets	Pancreatic Islet
28	chr6:150068000-150070000	Weak transcription	Fetal Muscle Trunk	muscle
29	chr6:150068000-150070000	Weak transcription	Left Ventricle	heart
30	chr6:150068000-150070000	Weak transcription	Pancreas	Pancrea
31	chr6:150068000-150070000	Weak transcription	Right Atrium	heart
32	chr6:150068000-150070000	Weak transcription	Spleen	Spleen
33	chr6:150068000-150070000	Weak transcription	HSMM	muscle
34	chr6:150068000-150070000	Weak transcription	HSMMtube	muscle
35	chr6:150068000-150070200	Weak transcription	Right Ventricle	heart
36	chr6:150068000-150070400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr6:150068000-150070400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr6:150068000-150070400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr6:150068000-150070400	Weak transcription	Esophagus	oesophagus
40	chr6:150068000-150070600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr6:150068000-150070600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr6:150068000-150070600	Weak transcription	Aorta	Aorta
43	chr6:150068000-150070600	Weak transcription	Lung	lung
44	chr6:150068000-150070600	Weak transcription	Ovary	ovary
45	chr6:150068000-150070600	Weak transcription	Sigmoid Colon	Sigmoid Colon
46	chr6:150068000-150070600	Weak transcription	Stomach Mucosa	stomach
47	chr6:150068200-150069600	Weak transcription	Primary T cells fromperipheralblood	blood
48	chr6:150068200-150069600	Weak transcription	Primary hematopoietic stem cells	blood
49	chr6:150068200-150069800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr6:150068200-150069800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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