Variant report

Variant	rs9678342
Chromosome Location	chr2:231283711-231283712
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:231281967..231284273-chr2:231304753..231307439,2	K562	blood:

Extended variants
information (count: 29 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10178594	0.84[ASN][1000 genomes]
rs10182438	0.81[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]
rs10191957	0.96[ASN][1000 genomes]
rs10205096	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1156156	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11675846	0.85[ASN][1000 genomes]
rs13398034	0.90[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.93[ASN][1000 genomes]
rs13406769	0.82[ASN][1000 genomes]
rs13411586	0.90[CHB][hapmap];0.87[CHD][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs1427283	0.89[ASN][1000 genomes]
rs1559987	0.87[ASN][1000 genomes]
rs2255345	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs3754945	0.89[ASN][1000 genomes]
rs3893833	0.81[CHB][hapmap];0.85[JPT][hapmap]
rs3893834	0.81[CHB][hapmap];0.85[JPT][hapmap]
rs58742879	0.82[ASN][1000 genomes]
rs58941251	0.91[ASN][1000 genomes]
rs60304451	0.89[ASN][1000 genomes]
rs62192251	0.89[ASN][1000 genomes]
rs62193374	0.91[ASN][1000 genomes]
rs62193375	0.93[ASN][1000 genomes]
rs62193377	0.91[ASN][1000 genomes]
rs62193379	0.91[ASN][1000 genomes]
rs62193406	0.82[ASN][1000 genomes]
rs62193407	0.82[ASN][1000 genomes]
rs62193410	0.82[ASN][1000 genomes]
rs890674	0.90[CHB][hapmap];1.00[JPT][hapmap]

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	esv18000	chr2:231072978-231467847	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv584671	chr2:231273229-231284556	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs9678342	RHBDD1	cis	cerebellum	SCAN
rs9678342	WDR69	cis	cerebellum	SCAN

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:231280400-231283800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
2	chr2:231280600-231283800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr2:231280600-231283800	Active TSS	K562	blood
4	chr2:231280600-231284000	Active TSS	Right Atrium	heart
5	chr2:231281200-231284000	Active TSS	Psoas Muscle	Psoas
6	chr2:231281600-231294800	Weak transcription	Gastric	stomach
7	chr2:231281800-231284600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr2:231281800-231293000	Weak transcription	Fetal Stomach	stomach
9	chr2:231282000-231283800	Flanking Active TSS	Adipose Nuclei	Adipose
10	chr2:231282000-231284000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
11	chr2:231282000-231293400	Weak transcription	Fetal Muscle Trunk	muscle
12	chr2:231282000-231294000	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr2:231282200-231283800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
14	chr2:231282200-231283800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
15	chr2:231282200-231283800	Enhancers	Fetal Heart	heart
16	chr2:231282200-231284000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr2:231282200-231284200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr2:231282200-231284200	Flanking Active TSS	HUVEC	blood vessel
19	chr2:231282200-231284400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr2:231282200-231284800	Flanking Active TSS	Primary T cells from cord blood	blood
21	chr2:231282200-231285400	Transcr. at gene 5' and 3'	Primary B cells from cord blood	blood
22	chr2:231282400-231284800	Enhancers	Stomach Mucosa	stomach
23	chr2:231282400-231288600	Weak transcription	Fetal Intestine Small	intestine
24	chr2:231282400-231292600	Weak transcription	A549	lung
25	chr2:231282600-231283800	Flanking Active TSS	NH-A	brain
26	chr2:231282600-231284000	Active TSS	Duodenum Smooth Muscle	Duodenum
27	chr2:231282600-231284000	Active TSS	GM12878-XiMat	blood
28	chr2:231282600-231284200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr2:231282600-231284200	Transcr. at gene 5' and 3'	Primary B cells from peripheral blood	blood
30	chr2:231282600-231284200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
31	chr2:231282600-231284200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
32	chr2:231282600-231284200	Enhancers	Rectal Mucosa Donor 31	rectum
33	chr2:231282600-231284200	Active TSS	Rectal Smooth Muscle	rectum
34	chr2:231282600-231288600	Weak transcription	Fetal Intestine Large	intestine
35	chr2:231282600-231290000	Weak transcription	Placenta	Placenta
36	chr2:231283000-231283800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
37	chr2:231283000-231283800	Enhancers	Fetal Muscle Leg	muscle
38	chr2:231283000-231284200	Flanking Active TSS	NHEK	skin
39	chr2:231283200-231284200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
40	chr2:231283200-231284200	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
41	chr2:231283200-231284400	Genic enhancers	Fetal Thymus	thymus
42	chr2:231283200-231284600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
43	chr2:231283200-231284600	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
44	chr2:231283400-231283800	Enhancers	Aorta	Aorta
45	chr2:231283400-231283800	Enhancers	Esophagus	oesophagus
46	chr2:231283400-231284000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr2:231283400-231284200	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
48	chr2:231283400-231284200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr2:231283400-231284200	Enhancers	Pancreas	Pancrea
50	chr2:231283400-231284200	Enhancers	Skeletal Muscle Female	skeletal muscle

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