Variant report

Variant	rs9285420
Chromosome Location	chr6:117826724-117826725
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:117826638..117828169-chr6:117832301..117834365,2	K562	blood:
2	chr6:117803267..117806417-chr6:117823935..117828011,5	MCF-7	breast:
3	chr6:117802549..117804711-chr6:117824121..117828201,5	K562	blood:
4	chr6:117826330..117829186-chr6:117866994..117868994,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164465	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs210648	1.00[YRI][hapmap]
rs210652	1.00[YRI][hapmap]
rs9387485	1.00[YRI][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532050	chr6:117528154-118203005	ZNF genes & repeats Enhancers Bivalent Enhancer Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9285420	FRK	cis	cerebellum	SCAN

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:117805200-117851200	Weak transcription	Right Ventricle	heart
2	chr6:117808800-117826800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr6:117816400-117827800	Weak transcription	Right Atrium	heart
4	chr6:117816400-117828000	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr6:117816400-117828600	Weak transcription	K562	blood
6	chr6:117816400-117841400	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr6:117816800-117827800	Weak transcription	Gastric	stomach
8	chr6:117817800-117827600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr6:117818400-117833600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr6:117819600-117827600	Weak transcription	Colon Smooth Muscle	Colon
11	chr6:117819800-117827800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr6:117819800-117831600	Weak transcription	Hela-S3	cervix
13	chr6:117819800-117834200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr6:117819800-117868800	Weak transcription	Spleen	Spleen
15	chr6:117820200-117827800	Weak transcription	NHDF-Ad	bronchial
16	chr6:117820400-117827400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr6:117820600-117827400	Weak transcription	Psoas Muscle	Psoas
18	chr6:117821200-117827600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr6:117821600-117868800	Weak transcription	Rectal Smooth Muscle	rectum
20	chr6:117821800-117843600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr6:117822600-117827400	Enhancers	HepG2	liver
22	chr6:117823200-117868800	Weak transcription	Stomach Smooth Muscle	stomach
23	chr6:117823200-117869600	Weak transcription	Small Intestine	intestine
24	chr6:117823400-117827600	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr6:117823600-117830800	Weak transcription	Brain Angular Gyrus	brain
26	chr6:117824000-117826800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr6:117824000-117827400	Weak transcription	HSMMtube	muscle
28	chr6:117824400-117826800	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr6:117824400-117826800	Strong transcription	HSMM	muscle
30	chr6:117824400-117827600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr6:117824600-117826800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr6:117824800-117827000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr6:117824800-117827400	Strong transcription	Muscle Satellite Cultured Cells	--
34	chr6:117824800-117827800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr6:117825000-117827200	Strong transcription	HUVEC	blood vessel
36	chr6:117825200-117827200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr6:117825200-117827200	Strong transcription	Adipose Nuclei	Adipose
38	chr6:117825200-117828400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr6:117825400-117827000	Strong transcription	Fetal Lung	lung
40	chr6:117825400-117827800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr6:117825400-117828000	Strong transcription	NHEK	skin
42	chr6:117825400-117829400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr6:117825400-117833400	Weak transcription	Pancreatic Islets	Pancreatic Islet
44	chr6:117825600-117826800	Enhancers	Fetal Intestine Small	intestine
45	chr6:117825600-117827000	Strong transcription	Fetal Stomach	stomach
46	chr6:117825600-117827600	Strong transcription	Lung	lung
47	chr6:117825600-117827800	Strong transcription	Left Ventricle	heart
48	chr6:117825600-117828000	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr6:117825800-117827200	Genic enhancers	Fetal Intestine Large	intestine
50	chr6:117825800-117828400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood

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