Variant report

Variant	rs7229181
Chromosome Location	chr18:9723763-9723764
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:9723184..9725690-chr18:9755315..9757429,2	K562	blood:
2	chr18:9613542..9616601-chr18:9721891..9724420,3	MCF-7	breast:
3	chr18:9719423..9721324-chr18:9721456..9724402,2	K562	blood:
4	chr18:9706129..9716760-chr18:9717289..9726025,20	K562	blood:
5	chr18:9719464..9723291-chr18:9723398..9728307,5	K562	blood:

Variant related genes	Relation type
ENSG00000154845	Chromatin interaction
ENSG00000168461	Chromatin interaction
ENSG00000263627	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11081496	0.83[GIH][hapmap]
rs12326201	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12956502	0.85[ASN][1000 genomes]
rs2045228	0.89[GIH][hapmap];0.81[TSI][hapmap]
rs2864780	0.87[CHD][hapmap];0.89[JPT][hapmap]
rs4798834	0.91[GIH][hapmap];0.81[TSI][hapmap]
rs7233912	0.81[EUR][1000 genomes]
rs882013	1.00[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.92[MEX][hapmap];0.98[MKK][hapmap];0.97[TSI][hapmap];0.91[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv458024	chr18:9558240-9828448	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv576448	chr18:9558240-9828448	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	nsv469897	chr18:9674498-9870517	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
4	nsv482461	chr18:9674498-9870517	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
5	nsv1064807	chr18:9695356-9770358	Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs7229181	RAB31	cis	lymphoblastoid	seeQTL
rs7229181	CHMP1B	cis	parietal	SCAN
rs7229181	TWSG1	cis	cerebellum	SCAN

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9710200-9733600	Weak transcription	Left Ventricle	heart
2	chr18:9710400-9732000	Weak transcription	Fetal Stomach	stomach
3	chr18:9712800-9732000	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr18:9713600-9732200	Weak transcription	Adipose Nuclei	Adipose
5	chr18:9716800-9732400	Weak transcription	Fetal Muscle Trunk	muscle
6	chr18:9717200-9732000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr18:9718200-9732000	Weak transcription	Primary B cells from peripheral blood	blood
8	chr18:9718200-9732600	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr18:9719000-9732000	Weak transcription	HSMMtube	muscle
10	chr18:9719200-9724800	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr18:9719800-9724400	Weak transcription	HUES48 Cell Line	embryonic stem cell
12	chr18:9719800-9725200	Weak transcription	HUES64 Cell Line	embryonic stem cell
13	chr18:9719800-9733600	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr18:9719800-9734400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr18:9720000-9723800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr18:9720000-9724000	Weak transcription	Brain Cingulate Gyrus	brain
17	chr18:9720000-9726000	Weak transcription	HSMM	muscle
18	chr18:9720000-9730000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr18:9720000-9730600	Weak transcription	NHLF	lung
20	chr18:9720000-9737400	Weak transcription	Brain Anterior Caudate	brain
21	chr18:9720000-9742000	Weak transcription	Rectal Smooth Muscle	rectum
22	chr18:9720400-9724200	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr18:9720400-9724600	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr18:9720400-9726200	Weak transcription	Colon Smooth Muscle	Colon
25	chr18:9720400-9730600	Weak transcription	NH-A	brain
26	chr18:9720600-9724400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
27	chr18:9720600-9724600	Weak transcription	NHDF-Ad	bronchial
28	chr18:9720600-9724800	Weak transcription	H1 Cell Line	embryonic stem cell
29	chr18:9720600-9724800	Weak transcription	Brain Hippocampus Middle	brain
30	chr18:9720600-9724800	Weak transcription	Lung	lung
31	chr18:9720600-9724800	Weak transcription	Ovary	ovary
32	chr18:9720600-9725800	Weak transcription	Stomach Smooth Muscle	stomach
33	chr18:9720600-9730600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr18:9720600-9730600	Weak transcription	A549	lung
35	chr18:9720600-9732000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr18:9720600-9733600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr18:9720600-9734200	Weak transcription	HUVEC	blood vessel
38	chr18:9720800-9737600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr18:9721000-9741600	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr18:9721200-9737200	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr18:9721800-9737600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr18:9722200-9724000	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr18:9722200-9724800	Weak transcription	Spleen	Spleen
44	chr18:9722200-9727600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr18:9722400-9724000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr18:9722400-9724800	Weak transcription	Aorta	Aorta
47	chr18:9722400-9724800	Weak transcription	Esophagus	oesophagus
48	chr18:9722400-9725000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
49	chr18:9722400-9726200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr18:9722400-9730800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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