Variant report

Variant	rs1246641
Chromosome Location	chr4:89866084-89866085
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 81 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:72)

rs_ID	r²[population]
rs10001420	0.83[ASN][1000 genomes]
rs10019862	0.96[ASN][1000 genomes]
rs10028121	1.00[CHB][hapmap];0.96[ASN][1000 genomes]
rs10033435	0.92[ASN][1000 genomes]
rs10033476	0.92[ASN][1000 genomes]
rs11097200	0.85[MEX][hapmap]
rs11735482	0.90[MEX][hapmap]
rs1246630	0.96[ASN][1000 genomes]
rs1246633	0.96[ASN][1000 genomes]
rs1246637	0.92[ASN][1000 genomes]
rs1246638	1.00[ASN][1000 genomes]
rs1246639	0.88[ASN][1000 genomes]
rs12649368	0.90[MEX][hapmap]
rs1272570	0.96[ASN][1000 genomes]
rs13106968	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs13148439	0.96[ASN][1000 genomes]
rs1379934	1.00[CHB][hapmap]
rs1398938	0.83[CHD][hapmap];0.83[ASN][1000 genomes]
rs1398939	0.83[ASN][1000 genomes]
rs1398941	0.83[ASN][1000 genomes]
rs1458552	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1458553	1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1458555	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1533294	0.81[CEU][hapmap];1.00[CHB][hapmap]
rs1708673	0.83[CHD][hapmap]
rs1795730	0.83[ASN][1000 genomes]
rs1795737	0.83[ASN][1000 genomes]
rs1795740	0.83[ASN][1000 genomes]
rs1903004	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs1903009	1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2045516	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2125410	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2446295	0.96[ASN][1000 genomes]
rs2446302	0.88[ASN][1000 genomes]
rs2446309	1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2464511	0.83[ASN][1000 genomes]
rs2464521	0.96[ASN][1000 genomes]
rs2464526	1.00[ASW][hapmap];1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2609254	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2609263	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2609266	1.00[CHB][hapmap];0.83[CHD][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2609274	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2609278	1.00[ASN][1000 genomes]
rs2609281	1.00[ASN][1000 genomes]
rs2609284	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2670618	0.83[CHD][hapmap]
rs2670619	1.00[CHB][hapmap];0.83[ASN][1000 genomes]
rs2670620	0.83[ASN][1000 genomes]
rs2704572	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs2704588	1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2704591	1.00[ASN][1000 genomes]
rs2704592	0.83[CHD][hapmap]
rs2704593	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2704602	1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2704603	1.00[ASN][1000 genomes]
rs2704606	1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs28559811	0.83[ASN][1000 genomes]
rs28624770	0.96[ASN][1000 genomes]
rs28658282	0.96[ASN][1000 genomes]
rs2869965	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs2869968	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28869547	0.83[ASN][1000 genomes]
rs4498109	0.88[ASN][1000 genomes]
rs59698155	0.96[ASN][1000 genomes]
rs7673427	0.96[ASN][1000 genomes]
rs7697878	0.96[ASN][1000 genomes]
rs922027	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs973680	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs987314	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.90[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs993358	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs9999793	0.83[ASN][1000 genomes]
rs9999873	0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv470051	chr4:89644931-90643144	Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Strong 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	18 gene(s)	inside rSNPs	diseases
2	nsv1009354	chr4:89725914-89985155	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv998651	chr4:89800245-89933445	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
4	nsv537175	chr4:89800245-89933445	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv879532	chr4:89811195-89917135	Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
6	nsv879533	chr4:89832532-89917135	ZNF genes & repeats Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
7	nsv1007025	chr4:89837734-90098046	Enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
8	nsv537176	chr4:89837734-90098046	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
9	esv1829430	chr4:89853598-89908308	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1246641	ABCG2	cis	cerebellum	SCAN

Chromatin state (count:37 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:89825600-89878400	Weak transcription	Primary hematopoietic stem cells	blood
2	chr4:89845400-89866400	Weak transcription	H1 Cell Line	embryonic stem cell
3	chr4:89850200-89878800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr4:89851400-89883600	Weak transcription	Fetal Intestine Large	intestine
5	chr4:89852400-89885000	Weak transcription	Fetal Lung	lung
6	chr4:89852600-89877800	Weak transcription	Fetal Muscle Leg	muscle
7	chr4:89852600-89879200	Weak transcription	Fetal Stomach	stomach
8	chr4:89852600-89879400	Weak transcription	Fetal Muscle Trunk	muscle
9	chr4:89856200-89869200	Weak transcription	Left Ventricle	heart
10	chr4:89856400-89872000	Weak transcription	Aorta	Aorta
11	chr4:89857000-89867800	Weak transcription	Stomach Smooth Muscle	stomach
12	chr4:89857800-89867200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr4:89857800-89868200	Weak transcription	Placenta	Placenta
14	chr4:89857800-89869600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr4:89857800-89872000	Weak transcription	Pancreas	Pancrea
16	chr4:89857800-89879400	Weak transcription	Lung	lung
17	chr4:89858400-89866400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr4:89859600-89867400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr4:89859600-89872000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr4:89859600-89877800	Weak transcription	Fetal Intestine Small	intestine
21	chr4:89859800-89866400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr4:89860000-89867600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr4:89861600-89873200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr4:89861600-89874600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr4:89863000-89874600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr4:89864000-89866400	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr4:89864000-89867400	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr4:89864400-89881400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chr4:89864800-89870400	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr4:89865400-89869200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr4:89865400-89870200	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr4:89865400-89874600	Weak transcription	Primary T cells from cord blood	blood
33	chr4:89865600-89866400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr4:89865600-89870800	Weak transcription	Ovary	ovary
35	chr4:89865600-89878400	Weak transcription	Sigmoid Colon	Sigmoid Colon
36	chr4:89865800-89870400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr4:89866000-89866800	Enhancers	Cortex derived primary cultured neurospheres	brain

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