Variant report

Variant	rs9472158
Chromosome Location	chr6:43918897-43918898
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:43918731..43921612-chr6:43946723..43948842,2	K562	blood:
2	chr6:43735432..43742006-chr6:43916130..43924754,17	K562	blood:
3	chr6:43823626..43824559-chr6:43918714..43919532,4	MCF-7	breast:
4	chr6:43784672..43785538-chr6:43918690..43919959,3	MCF-7	breast:
5	chr6:43734091..43739914-chr6:43917004..43923314,11	MCF-7	breast:
6	chr6:43738015..43740761-chr6:43916683..43921119,5	MCF-7	breast:
7	chr6:43680878..43682620-chr6:43917140..43919611,2	K562	blood:
8	chr6:43692485..43693434-chr6:43918130..43919228,3	K562	blood:
9	chr6:43917227..43922653-chr6:44039743..44042402,5	K562	blood:
10	chr6:43754968..43757763-chr6:43917516..43919358,2	K562	blood:
11	chr6:43823492..43824547-chr6:43918595..43919619,4	K562	blood:
12	chr6:43918507..43921247-chr6:44026207..44027976,2	K562	blood:
13	chr6:43894781..43895757-chr6:43918790..43919707,5	MCF-7	breast:
14	chr6:43736968..43737769-chr6:43918571..43919420,4	MCF-7	breast:
15	chr6:43735367..43746902-chr6:43913394..43925044,24	K562	blood:

No data

Variant related genes	Relation type
ENSG00000231881	Chromatin interaction
ENSG00000237686	Chromatin interaction
ENSG00000112715	Chromatin interaction
ENSG00000272114	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs4382251	0.83[ASN][1000 genomes]
rs4481426	0.84[ASN][1000 genomes]
rs6916314	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6916540	0.86[CEU][hapmap];0.82[CHB][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs729391	0.87[EUR][1000 genomes]
rs7745183	0.83[ASN][1000 genomes]
rs7745184	0.82[ASN][1000 genomes]
rs943075	0.82[ASN][1000 genomes]
rs9472170	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931987	chr6:43624625-44350167	Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	201 gene(s)	inside rSNPs	diseases
2	nsv428480	chr6:43764313-43929172	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs9472158	MED20	cis	parietal	SCAN
rs9472158	GUCA1B	cis	parietal	SCAN
rs9472158	C6orf130	cis	parietal	SCAN

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:43905600-43919000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr6:43909200-43922200	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr6:43916600-43920000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr6:43916600-43920200	Enhancers	Fetal Lung	lung
5	chr6:43916600-43921600	Enhancers	K562	blood
6	chr6:43917000-43921800	Weak transcription	Left Ventricle	heart
7	chr6:43917000-43921800	Weak transcription	Psoas Muscle	Psoas
8	chr6:43917600-43919400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr6:43918000-43919000	Enhancers	Fetal Muscle Trunk	muscle
10	chr6:43918000-43919000	Weak transcription	Fetal Stomach	stomach
11	chr6:43918200-43919800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr6:43918400-43919800	Enhancers	Liver	Liver
13	chr6:43918400-43920000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr6:43918600-43919000	Enhancers	ES-I3 Cell Line	embryonic stem cell
15	chr6:43918600-43919000	Enhancers	Gastric	stomach
16	chr6:43918600-43919000	Active TSS	Spleen	Spleen
17	chr6:43918600-43919200	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr6:43918600-43919200	Enhancers	Skeletal Muscle Female	skeletal muscle
19	chr6:43918600-43919200	Enhancers	HSMM	muscle
20	chr6:43918600-43919400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr6:43918600-43919600	Enhancers	Stomach Mucosa	stomach
22	chr6:43918600-43920400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr6:43918600-43920400	Enhancers	Fetal Intestine Small	intestine
24	chr6:43918600-43921200	Enhancers	Skeletal Muscle Male	skeletal muscle
25	chr6:43918600-43923200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
26	chr6:43918800-43919000	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr6:43918800-43919000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
28	chr6:43918800-43919000	Enhancers	Duodenum Mucosa	Duodenum
29	chr6:43918800-43919200	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr6:43918800-43919200	Enhancers	Adipose Nuclei	Adipose
31	chr6:43918800-43919200	Enhancers	Rectal Mucosa Donor 31	rectum
32	chr6:43918800-43919400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr6:43918800-43919600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr6:43918800-43919600	Enhancers	Pancreas	Pancrea
35	chr6:43918800-43919800	Enhancers	Right Atrium	heart
36	chr6:43918800-43919800	Flanking Bivalent TSS/Enh	HepG2	liver
37	chr6:43918800-43920000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr6:43918800-43920000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr6:43918800-43920000	Enhancers	Right Ventricle	heart
40	chr6:43918800-43920200	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr6:43918800-43920400	Enhancers	Fetal Heart	heart
42	chr6:43918800-43920400	Enhancers	Fetal Intestine Large	intestine
43	chr6:43918800-43923400	Enhancers	Fetal Muscle Leg	muscle

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