Variant report

Variant	rs1874314
Chromosome Location	chr12:64484714-64484715
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:64481819..64484735-chr12:64488926..64491185,2	MCF-7	breast:
2	chr12:64473981..64476919-chr12:64483268..64486226,2	MCF-7	breast:
3	chr12:64479951..64485061-chr12:64487402..64490440,5	MCF-7	breast:
4	chr12:64483316..64484966-chr12:64493409..64495146,2	MCF-7	breast:
5	chr12:64473507..64478199-chr12:64480317..64485815,7	MCF-7	breast:
6	chr12:64240054..64242405-chr12:64482423..64484975,2	MCF-7	breast:

Extended variants
information (count: 2 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs1567765	0.95[CHB][hapmap];0.98[CHD][hapmap];0.96[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];0.99[ASN][1000 genomes]

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	esv3351487	chr12:64420364-64763950	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1874314	RASSF3	cis	cerebellum	SCAN
rs1874314	SRGAP1	cis	lymphoblastoid	seeQTL

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:64457000-64510600	Weak transcription	HepG2	liver
2	chr12:64474800-64521400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
3	chr12:64475400-64486000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr12:64477400-64520800	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr12:64481200-64484800	Weak transcription	Small Intestine	intestine
6	chr12:64482000-64488800	Enhancers	Fetal Brain Male	brain
7	chr12:64482200-64485800	Enhancers	Fetal Muscle Leg	muscle
8	chr12:64482400-64485200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr12:64482600-64484800	Weak transcription	Fetal Lung	lung
10	chr12:64482600-64485000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr12:64482600-64485200	Enhancers	Left Ventricle	heart
12	chr12:64482600-64497600	Weak transcription	Fetal Kidney	kidney
13	chr12:64482800-64484800	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr12:64482800-64485000	Enhancers	Fetal Heart	heart
15	chr12:64482800-64493000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr12:64482800-64503400	Weak transcription	Fetal Intestine Large	intestine
17	chr12:64483000-64485200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr12:64483000-64485200	Enhancers	NHLF	lung
19	chr12:64483000-64485600	Weak transcription	Brain Germinal Matrix	brain
20	chr12:64483000-64492600	Weak transcription	Fetal Stomach	stomach
21	chr12:64483000-64492600	Weak transcription	Rectal Smooth Muscle	rectum
22	chr12:64483000-64521400	Weak transcription	Liver	Liver
23	chr12:64483200-64484800	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr12:64483200-64484800	Weak transcription	Right Atrium	heart
25	chr12:64483200-64485000	Weak transcription	Fetal Brain Female	brain
26	chr12:64483200-64485800	Enhancers	Muscle Satellite Cultured Cells	--
27	chr12:64483200-64491200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr12:64483200-64491200	Weak transcription	Fetal Intestine Small	intestine
29	chr12:64483200-64491400	Weak transcription	Brain Anterior Caudate	brain
30	chr12:64483200-64492400	Weak transcription	Colon Smooth Muscle	Colon
31	chr12:64483200-64498200	Weak transcription	Ovary	ovary
32	chr12:64483200-64502400	Weak transcription	Aorta	Aorta
33	chr12:64483200-64502400	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr12:64483200-64503400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr12:64483200-64520800	Weak transcription	Brain Cingulate Gyrus	brain
36	chr12:64483200-64521400	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr12:64483400-64485400	Genic enhancers	A549	lung
38	chr12:64483400-64495600	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr12:64483400-64503600	Weak transcription	Right Ventricle	heart
40	chr12:64483400-64505400	Weak transcription	Duodenum Mucosa	Duodenum
41	chr12:64483600-64486000	Genic enhancers	NHDF-Ad	bronchial
42	chr12:64483600-64489200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr12:64483600-64491200	Weak transcription	Fetal Muscle Trunk	muscle
44	chr12:64483600-64491200	Weak transcription	Rectal Mucosa Donor 31	rectum
45	chr12:64483600-64492600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr12:64483600-64503600	Weak transcription	Pancreas	Pancrea
47	chr12:64483600-64519800	Weak transcription	Gastric	stomach
48	chr12:64483600-64521400	Weak transcription	Lung	lung
49	chr12:64483800-64485200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr12:64483800-64486000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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