Variant report

Variant	rs7238432
Chromosome Location	chr18:44443913-44443914
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 19 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11874267	0.80[YRI][hapmap]
rs11874582	0.80[YRI][hapmap]
rs11874634	0.80[YRI][hapmap]
rs12606208	1.00[MEX][hapmap]
rs7233632	1.00[ASW][hapmap];0.94[LWK][hapmap];0.93[MKK][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs7236403	0.80[YRI][hapmap]
rs7237809	0.89[AFR][1000 genomes]
rs7238877	0.80[YRI][hapmap]
rs7240843	0.86[YRI][hapmap]
rs7240909	0.80[YRI][hapmap]
rs7241858	0.80[YRI][hapmap]
rs7243309	0.80[YRI][hapmap]
rs7244384	1.00[ASW][hapmap];0.94[LWK][hapmap];0.93[MKK][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes]
rs8084833	0.92[AFR][1000 genomes]
rs8094449	0.80[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv9629	chr18:44264693-44757511	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	esv2763189	chr18:44415779-44515384	Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv833639	chr18:44426363-44552719	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv1059378	chr18:44431832-44509052	Strong transcription Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7238432	HDHD2	cis	lymphoblastoid	seeQTL

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:44391800-44448400	Weak transcription	Pancreas	Pancrea
2	chr18:44392600-44447800	Weak transcription	Esophagus	oesophagus
3	chr18:44399200-44457000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr18:44400000-44448200	Weak transcription	Spleen	Spleen
5	chr18:44404000-44448000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr18:44406000-44447200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr18:44407400-44447800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr18:44407600-44453200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr18:44408600-44448200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr18:44408800-44448200	Weak transcription	Lung	lung
11	chr18:44409400-44447400	Weak transcription	H9 Cell Line	embryonic stem cell
12	chr18:44414000-44448400	Weak transcription	Cortex derived primary cultured neurospheres	brain
13	chr18:44415600-44448000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr18:44420200-44445600	Weak transcription	K562	blood
15	chr18:44423400-44446400	Weak transcription	HSMM	muscle
16	chr18:44425000-44446000	Weak transcription	Rectal Smooth Muscle	rectum
17	chr18:44432200-44448400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr18:44433000-44448600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr18:44433800-44446400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr18:44434000-44448000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr18:44434400-44448200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr18:44434600-44445400	Weak transcription	Fetal Brain Female	brain
23	chr18:44434800-44448200	Weak transcription	Gastric	stomach
24	chr18:44435000-44446000	Weak transcription	NH-A	brain
25	chr18:44435000-44446800	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr18:44435000-44447400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr18:44435000-44447800	Weak transcription	Fetal Intestine Small	intestine
28	chr18:44435000-44447800	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr18:44435000-44448000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr18:44435000-44448000	Weak transcription	Liver	Liver
31	chr18:44435000-44448000	Weak transcription	Fetal Lung	lung
32	chr18:44435000-44448000	Weak transcription	HepG2	liver
33	chr18:44435000-44448200	Weak transcription	Fetal Stomach	stomach
34	chr18:44435000-44448400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr18:44435000-44448400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr18:44435000-44448400	Weak transcription	Brain Anterior Caudate	brain
37	chr18:44435000-44448600	Weak transcription	Aorta	Aorta
38	chr18:44435000-44448600	Weak transcription	Fetal Muscle Trunk	muscle
39	chr18:44435000-44448600	Weak transcription	Left Ventricle	heart
40	chr18:44435000-44448800	Weak transcription	Stomach Smooth Muscle	stomach
41	chr18:44435000-44457400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr18:44435400-44445800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr18:44435400-44446600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr18:44435400-44446800	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr18:44435400-44447800	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr18:44435400-44448200	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr18:44435400-44448200	Weak transcription	Monocytes-CD14+_RO01746	blood
48	chr18:44435400-44448400	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr18:44435400-44456000	Weak transcription	Fetal Kidney	kidney
50	chr18:44435600-44446200	Weak transcription	Fetal Thymus	thymus

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