Variant report

Variant	rs3789614
Chromosome Location	chr1:114523465-114523466
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:114353109..114354990-chr1:114522325..114525289,2	MCF-7	breast:
2	chr1:114471506..114473104-chr1:114522240..114523784,2	K562	blood:
3	chr1:114523401..114526223-chr1:114556190..114558490,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000235527	Chromatin interaction
ENSG00000081019	Chromatin interaction
ENSG00000163349	Chromatin interaction

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

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

rs_ID	r²[population]
rs10732635	0.89[GIH][hapmap]
rs11580207	0.88[CEU][hapmap]
rs2358996	0.87[GIH][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	esv2752424	chr1:114189958-114712958	Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3789614	CTTNBP2NL	cis	cerebellum	SCAN

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:114516200-114524600	Weak transcription	Small Intestine	intestine
2	chr1:114518000-114524800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr1:114518400-114525600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr1:114518600-114525200	Weak transcription	Dnd41	blood
5	chr1:114518800-114525200	Weak transcription	GM12878-XiMat	blood
6	chr1:114518800-114525800	Weak transcription	Esophagus	oesophagus
7	chr1:114519000-114525000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr1:114519800-114527000	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr1:114521600-114523600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
10	chr1:114521600-114523800	Flanking Active TSS	Fetal Muscle Leg	muscle
11	chr1:114521600-114524000	Active TSS	Duodenum Smooth Muscle	Duodenum
12	chr1:114521600-114524200	Weak transcription	Primary T helper cells PMA-I stimulated	--
13	chr1:114521600-114526600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
14	chr1:114521600-114527000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr1:114521800-114523600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr1:114521800-114523600	Active TSS	Rectal Mucosa Donor 29	rectum
17	chr1:114521800-114524200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr1:114522000-114523600	Active TSS	ES-I3 Cell Line	embryonic stem cell
19	chr1:114522000-114525000	Weak transcription	Liver	Liver
20	chr1:114522000-114525000	Weak transcription	Stomach Mucosa	stomach
21	chr1:114522200-114523800	Active TSS	Brain Hippocampus Middle	brain
22	chr1:114522200-114524000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr1:114522200-114524400	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr1:114522200-114524600	Weak transcription	Pancreas	Pancrea
25	chr1:114522200-114524800	Weak transcription	Fetal Thymus	thymus
26	chr1:114522200-114525200	Weak transcription	Hela-S3	cervix
27	chr1:114522200-114525600	Weak transcription	Gastric	stomach
28	chr1:114522200-114525600	Weak transcription	Psoas Muscle	Psoas
29	chr1:114522200-114526000	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr1:114522200-114526200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr1:114522400-114523800	Flanking Active TSS	NHDF-Ad	bronchial
32	chr1:114522400-114524400	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr1:114522400-114524400	Strong transcription	Primary neutrophils fromperipheralblood	blood
34	chr1:114522400-114525000	Weak transcription	Primary hematopoietic stem cells	blood
35	chr1:114522400-114525000	Weak transcription	HMEC	breast
36	chr1:114522400-114525200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr1:114522400-114525600	Weak transcription	Right Ventricle	heart
38	chr1:114522400-114527400	Flanking Active TSS	Stomach Smooth Muscle	stomach
39	chr1:114522600-114523600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr1:114522600-114523800	Strong transcription	Primary T cells from cord blood	blood
41	chr1:114522600-114524800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr1:114522800-114524600	Weak transcription	HepG2	liver
43	chr1:114522800-114525000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr1:114522800-114525600	Weak transcription	Brain Angular Gyrus	brain
45	chr1:114522800-114526200	Weak transcription	Brain Cingulate Gyrus	brain
46	chr1:114523000-114523600	Active TSS	Brain Inferior Temporal Lobe	brain
47	chr1:114523000-114523800	Weak transcription	Duodenum Mucosa	Duodenum
48	chr1:114523000-114523800	Transcr. at gene 5' and 3'	HSMM	muscle
49	chr1:114523000-114524000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr1:114523000-114524200	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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