Variant report

Variant	rs12194183
Chromosome Location	chr6:117885959-117885960
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:117885163..117888221-chr6:117921920..117925495,5	MCF-7	breast:
2	chr6:117870867..117873766-chr6:117883211..117885985,2	K562	blood:
3	chr6:117884768..117887417-chr6:117890462..117892944,2	MCF-7	breast:
4	chr6:117883980..117886013-chr6:117996305..117998941,2	K562	blood:

Variant related genes	Relation type
ENSG00000153989	Chromatin interaction
ENSG00000047932	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10484298	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13211542	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[CHD][hapmap];0.87[JPT][hapmap];1.00[LWK][hapmap];0.90[MEX][hapmap];0.91[MKK][hapmap];0.85[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes]
rs1759	0.81[CHD][hapmap];0.84[ASN][1000 genomes]
rs1827327	0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs210630	0.82[ASN][1000 genomes]
rs210633	0.82[ASN][1000 genomes]
rs210637	0.82[ASN][1000 genomes]
rs210639	0.81[CHD][hapmap];0.81[ASN][1000 genomes]
rs210642	0.81[ASN][1000 genomes]
rs4946267	0.81[ASN][1000 genomes]
rs9387491	0.84[CHB][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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs12194183	FAM26E	cis	parietal	SCAN
rs12194183	FRK	cis	cerebellum	SCAN
rs12194183	MCM9	cis	parietal	SCAN

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:117869800-117889000	Weak transcription	Left Ventricle	heart
2	chr6:117869800-117889400	Weak transcription	Psoas Muscle	Psoas
3	chr6:117869800-117889600	Weak transcription	Colonic Mucosa	Colon
4	chr6:117869800-117894400	Weak transcription	Lung	lung
5	chr6:117869800-117903800	Weak transcription	Spleen	Spleen
6	chr6:117869800-117904000	Weak transcription	Gastric	stomach
7	chr6:117869800-117904000	Weak transcription	Pancreas	Pancrea
8	chr6:117870000-117886800	Weak transcription	Rectal Smooth Muscle	rectum
9	chr6:117870400-117886800	Weak transcription	Primary hematopoietic stem cells	blood
10	chr6:117870400-117889600	Weak transcription	Brain Cingulate Gyrus	brain
11	chr6:117870400-117889600	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr6:117870600-117886800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr6:117871000-117889600	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr6:117871000-117889800	Weak transcription	Fetal Heart	heart
15	chr6:117871200-117888400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr6:117871600-117922600	Weak transcription	Stomach Mucosa	stomach
17	chr6:117872200-117887000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr6:117872200-117887400	Weak transcription	Fetal Lung	lung
19	chr6:117872200-117894600	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr6:117872200-117905600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr6:117872400-117889000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr6:117872400-117889600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr6:117874600-117921400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr6:117874800-117886600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr6:117875200-117893800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr6:117876800-117887600	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr6:117876800-117919800	Weak transcription	Hela-S3	cervix
28	chr6:117877000-117887000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr6:117877000-117903800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr6:117877200-117886800	Weak transcription	HUVEC	blood vessel
31	chr6:117877200-117887200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr6:117877200-117887200	Weak transcription	Colon Smooth Muscle	Colon
33	chr6:117877200-117888000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr6:117877200-117889400	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr6:117879800-117900400	Strong transcription	Muscle Satellite Cultured Cells	--
36	chr6:117880000-117888200	Strong transcription	HSMMtube	muscle
37	chr6:117880200-117901000	Strong transcription	Osteobl	bone
38	chr6:117880400-117892200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr6:117880400-117895800	Strong transcription	Rectal Mucosa Donor 31	rectum
40	chr6:117880400-117900800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr6:117880600-117887200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr6:117880600-117899800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr6:117880800-117886800	Weak transcription	NHEK	skin
44	chr6:117880800-117887200	Weak transcription	Brain Hippocampus Middle	brain
45	chr6:117880800-117889400	Weak transcription	Brain Anterior Caudate	brain
46	chr6:117880800-117889400	Weak transcription	Brain Substantia Nigra	brain
47	chr6:117880800-117889400	Weak transcription	Fetal Brain Female	brain
48	chr6:117880800-117894000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr6:117880800-117903600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr6:117880800-117903600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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