Variant report

Variant	rs2241090
Chromosome Location	chr19:18285751-18285752
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:18283035..18288338-chr19:18301660..18307351,8	K562	blood:
2	chr19:18270258..18275351-chr19:18277257..18287386,21	K562	blood:
3	chr19:18284538..18286189-chr19:18313497..18315527,2	K562	blood:
4	chr19:18270372..18276469-chr19:18282239..18286487,12	K562	blood:
5	chr19:18282952..18288338-chr19:18301660..18306832,7	K562	blood:
6	chr19:18260584..18267400-chr19:18276077..18285960,14	MCF-7	breast:
7	chr19:18285361..18288338-chr19:18390930..18392881,2	K562	blood:
8	chr19:18275011..18277551-chr19:18282905..18285760,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000105649	Chromatin interaction
ENSG00000105647	Chromatin interaction
ENSG00000268173	Chromatin interaction
ENSG00000130522	Chromatin interaction
ENSG00000269145	Chromatin interaction
ENSG00000254858	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 6 )

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

rs_ID	r²[population]
rs1045747	0.88[ASW][hapmap];1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.84[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17683509	0.87[YRI][hapmap]
rs2241089	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.81[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs273265	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs273266	0.94[ASW][hapmap];1.00[CEU][hapmap];0.90[CHB][hapmap];0.82[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.95[MEX][hapmap];0.82[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2921	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4808118	0.88[ASW][hapmap];1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.84[MKK][hapmap];1.00[TSI][hapmap];0.84[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4808757	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4808758	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6512247	0.94[ASW][hapmap];1.00[CEU][hapmap];0.97[LWK][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7248971	0.85[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs7259445	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72999501	0.96[AFR][1000 genomes]
rs73001407	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs887945	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1055932	chr19:17923918-18369944	Weak transcription Strong transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
2	nsv543923	chr19:17923918-18369944	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
3	nsv532614	chr19:18033043-18573963	Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	204 gene(s)	inside rSNPs	diseases
4	esv1837595	chr19:18085428-18393682	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	147 gene(s)	inside rSNPs	diseases
5	nsv833773	chr19:18152971-18302988	Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
6	nsv911241	chr19:18193191-18304700	Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
7	nsv911242	chr19:18201757-18304700	Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
8	nsv911244	chr19:18206681-18304700	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
9	nsv911245	chr19:18206681-18338101	Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
10	nsv833774	chr19:18213761-18295329	Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
11	nsv833775	chr19:18213761-18390074	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
12	nsv911247	chr19:18224729-18288069	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
13	nsv911248	chr19:18224729-18338101	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
14	nsv911249	chr19:18224729-18375846	Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
15	nsv911250	chr19:18224729-18376522	Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
16	nsv911251	chr19:18224729-18422364	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
17	nsv911252	chr19:18234588-18338101	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
18	nsv911253	chr19:18240127-18418044	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
19	nsv916325	chr19:18244780-18534927	Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	167 gene(s)	inside rSNPs	diseases
20	nsv911254	chr19:18248146-18310678	Enhancers Bivalent/Poised TSS Strong transcription Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
21	nsv911256	chr19:18255359-18338101	Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs2241090	ZNF429	cis	cerebellum	SCAN
rs2241090	GPR152	trans	multi-tissue	Pritchard
rs2241090	NDUFA13	cis	parietal	SCAN
rs2241090	IFI30	cis	multi-tissue	Pritchard
rs2241090	TMEM38A	cis	parietal	SCAN
rs2241090	CHRM4	trans	multi-tissue	Pritchard

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18284000-18286000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr19:18284200-18285800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr19:18284200-18286200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
4	chr19:18284200-18286200	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
5	chr19:18284200-18286400	Flanking Active TSS	Adipose Nuclei	Adipose
6	chr19:18284200-18286600	Flanking Active TSS	Placenta	Placenta
7	chr19:18284400-18286000	Active TSS	Brain Anterior Caudate	brain
8	chr19:18284400-18286600	Active TSS	Duodenum Smooth Muscle	Duodenum
9	chr19:18284600-18285800	Active TSS	Gastric	stomach
10	chr19:18284600-18285800	Active TSS	Lung	lung
11	chr19:18284600-18285800	Active TSS	Spleen	Spleen
12	chr19:18284600-18286000	Active TSS	Brain Hippocampus Middle	brain
13	chr19:18284600-18286000	Active TSS	Brain Inferior Temporal Lobe	brain
14	chr19:18284600-18286000	Active TSS	Right Atrium	heart
15	chr19:18284600-18286200	Active TSS	Rectal Smooth Muscle	rectum
16	chr19:18285000-18285800	Flanking Active TSS	Primary B cells from cord blood	blood
17	chr19:18285000-18286000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
18	chr19:18285000-18286200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
19	chr19:18285000-18286400	Flanking Active TSS	Duodenum Mucosa	Duodenum
20	chr19:18285000-18290200	Transcr. at gene 5' and 3'	Monocytes-CD14+_RO01746	blood
21	chr19:18285200-18286000	Enhancers	Sigmoid Colon	Sigmoid Colon
22	chr19:18285200-18286400	Transcr. at gene 5' and 3'	Primary B cells from peripheral blood	blood
23	chr19:18285200-18288400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr19:18285200-18288800	Transcr. at gene 5' and 3'	Primary monocytes fromperipheralblood	blood
25	chr19:18285200-18289600	Weak transcription	Small Intestine	intestine
26	chr19:18285400-18285800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
27	chr19:18285400-18285800	Active TSS	Primary hematopoietic stem cells	blood
28	chr19:18285400-18285800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
29	chr19:18285400-18285800	Enhancers	Fetal Heart	heart
30	chr19:18285400-18285800	Weak transcription	NHDF-Ad	bronchial
31	chr19:18285400-18286000	Enhancers	Primary T helper naive cells from peripheral blood	blood
32	chr19:18285400-18286000	Enhancers	Primary T killer memory cells from peripheral blood	blood
33	chr19:18285400-18286000	Enhancers	Brain Substantia Nigra	brain
34	chr19:18285400-18286000	Flanking Active TSS	Fetal Intestine Large	intestine
35	chr19:18285400-18286000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
36	chr19:18285400-18286000	Enhancers	Ovary	ovary
37	chr19:18285400-18286000	Flanking Active TSS	Hela-S3	cervix
38	chr19:18285400-18286200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr19:18285400-18286200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr19:18285400-18286200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
41	chr19:18285400-18286200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
42	chr19:18285400-18286200	Enhancers	Brain Angular Gyrus	brain
43	chr19:18285400-18286200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
44	chr19:18285400-18286200	Enhancers	Right Ventricle	heart
45	chr19:18285400-18286200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
46	chr19:18285400-18286200	Enhancers	Stomach Mucosa	stomach
47	chr19:18285400-18286200	Flanking Active TSS	HepG2	liver
48	chr19:18285400-18286200	Flanking Active TSS	K562	blood
49	chr19:18285400-18286600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr19:18285400-18286600	Transcr. at gene 5' and 3'	GM12878-XiMat	blood

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