Variant report

Variant	rs11605797
Chromosome Location	chr11:63743420-63743421
allele	A/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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:63742089..63743658-chr11:63951371..63953619,2	K562	blood:
2	chr11:63585113..63586704-chr11:63741923..63744002,2	MCF-7	breast:
3	chr11:63448263..63450575-chr11:63740636..63743421,3	MCF-7	breast:
4	chr11:63719230..63721081-chr11:63742511..63745293,2	K562	blood:
5	chr11:63703471..63707661-chr11:63741980..63743610,3	K562	blood:
6	chr11:63605709..63607776-chr11:63741979..63743642,3	K562	blood:
7	chr11:63739151..63744415-chr11:63752010..63756596,9	MCF-7	breast:
8	chr11:63742451..63744007-chr11:63744491..63747148,2	MCF-7	breast:
9	chr11:63683426..63687637-chr11:63739381..63744575,6	K562	blood:
10	chr11:63731406..63733226-chr11:63742203..63743940,2	MCF-7	breast:
11	chr11:63741777..63744026-chr11:64034710..64037556,2	MCF-7	breast:
12	chr11:63742100..63743638-chr11:67379753..67382600,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000110583	Chromatin interaction
ENSG00000168439	Chromatin interaction
ENSG00000072518	Chromatin interaction
ENSG00000173264	Chromatin interaction
ENSG00000167770	Chromatin interaction
ENSG00000168005	Chromatin interaction
ENSG00000133318	Chromatin interaction
ENSG00000167771	Chromatin interaction
ENSG00000231793	Chromatin interaction

Extended variants
information (count: 76 )
Associated
traits (count: 11 )

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10897459	0.92[CEU][hapmap];0.81[GIH][hapmap];0.88[TSI][hapmap]
rs10897465	0.88[CEU][hapmap];1.00[CHB][hapmap];0.85[CHD][hapmap];1.00[JPT][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10897466	0.85[TSI][hapmap]
rs10897467	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10897469	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10897470	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11231603	1.00[YRI][hapmap]
rs11231628	0.92[CEU][hapmap];0.84[TSI][hapmap]
rs11231643	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11231646	0.85[CEU][hapmap];0.86[GIH][hapmap];0.95[TSI][hapmap]
rs11231655	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11231662	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11231663	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11231664	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11231670	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11231671	1.00[CEU][hapmap];0.89[CHB][hapmap];0.97[GIH][hapmap];0.92[MEX][hapmap];0.98[TSI][hapmap];0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11600062	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12417157	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12417507	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12418000	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12421757	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12786124	0.92[CEU][hapmap];0.90[GIH][hapmap];0.91[TSI][hapmap];1.00[YRI][hapmap]
rs12793201	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12794404	0.81[AMR][1000 genomes]
rs12797540	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12798491	0.82[TSI][hapmap]
rs12800703	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1386346	0.83[TSI][hapmap]
rs2129467	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2186572	1.00[YRI][hapmap]
rs2318126	0.92[CEU][hapmap];0.81[GIH][hapmap];0.84[TSI][hapmap]
rs320156	0.86[MEX][hapmap];0.83[TSI][hapmap]
rs34134698	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs34595065	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3740636	0.80[TSI][hapmap]
rs3740637	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.92[MEX][hapmap];0.86[MKK][hapmap];0.98[TSI][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs449047	0.92[CEU][hapmap];0.86[GIH][hapmap];0.86[TSI][hapmap];1.00[YRI][hapmap]
rs454474	0.92[CEU][hapmap];0.88[GIH][hapmap];0.86[TSI][hapmap];1.00[YRI][hapmap]
rs479975	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs481835	0.85[TSI][hapmap]
rs483340	0.86[MEX][hapmap];0.83[TSI][hapmap]
rs492357	0.96[CEU][hapmap];0.88[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4980499	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.86[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4980500	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.86[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];0.86[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4980501	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4980512	0.80[TSI][hapmap]
rs4980517	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4980530	0.92[CEU][hapmap];0.81[GIH][hapmap];0.88[TSI][hapmap]
rs500493	0.81[TSI][hapmap]
rs501278	0.88[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs504060	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs509701	0.82[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[MEX][hapmap];0.86[MKK][hapmap];0.98[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs539432	0.81[EUR][1000 genomes]
rs567386	0.86[MEX][hapmap];0.83[TSI][hapmap]
rs579669	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs581355	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs646384	1.00[YRI][hapmap]
rs660070	1.00[YRI][hapmap]
rs67136175	0.86[EUR][1000 genomes]
rs7112348	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs728919	0.80[TSI][hapmap]
rs7926608	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7936614	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7938498	0.83[TSI][hapmap]
rs928948	0.92[CEU][hapmap];0.84[TSI][hapmap]
rs947939	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051171	chr11:62987064-63835715	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer 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 target site	100 gene(s)	inside rSNPs	diseases
2	nsv468590	chr11:63639881-63783352	Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
3	nsv555181	chr11:63639881-63783352	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
4	nsv897629	chr11:63664882-63866959	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv897630	chr11:63664882-63924446	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
6	nsv897631	chr11:63664882-64129722	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer 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	254 gene(s)	inside rSNPs	diseases
7	nsv897639	chr11:63691049-63844683	Bivalent Enhancer Active TSS Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Weak transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
8	esv1849906	chr11:63719273-63880383	Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
9	nsv1042075	chr11:63732454-63813164	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
10	esv29993	chr11:63738642-63864211	Flanking Active TSS Genic enhancers Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription 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	32 gene(s)	inside rSNPs	diseases

mRNA abundance (count:11)

SNP	Gene	Cis/trans	Tissue	Source
rs11605797	GANAB	cis	parietal	SCAN
rs11605797	HNRNPUL2	cis	parietal	SCAN
rs11605797	MS4A7	cis	cerebellum	SCAN
rs11605797	FTH1	cis	parietal	SCAN
rs11605797	SLC22A12	cis	parietal	SCAN
rs11605797	RBM4B	cis	cerebellum	SCAN
rs11605797	SCYL1	cis	cerebellum	SCAN
rs11605797	C11orf95	cis	cerebellum	SCAN
rs11605797	MS4A6E	cis	cerebellum	SCAN
rs11605797	MS4A12	cis	parietal	SCAN
rs11605797	SLC22A24	cis	parietal	SCAN

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63741600-63743600	Active TSS	HUES64 Cell Line	embryonic stem cell
2	chr11:63741800-63743600	Active TSS	iPS-15b Cell Line	embryonic stem cell
3	chr11:63742000-63743600	Active TSS	Ovary	ovary
4	chr11:63742000-63743800	Active TSS	H9 Cell Line	embryonic stem cell
5	chr11:63742000-63743800	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
6	chr11:63742000-63744200	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr11:63742400-63743600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr11:63742400-63743800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
9	chr11:63742600-63743600	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
10	chr11:63742600-63743600	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
11	chr11:63742600-63744000	Enhancers	Fetal Brain Male	brain
12	chr11:63742600-63746800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
13	chr11:63742800-63743600	Enhancers	Primary B cells from peripheral blood	blood
14	chr11:63742800-63743600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
15	chr11:63742800-63743600	Flanking Active TSS	Fetal Thymus	thymus
16	chr11:63742800-63743800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
17	chr11:63742800-63743800	Flanking Active TSS	Colon Smooth Muscle	Colon
18	chr11:63742800-63744000	Enhancers	Primary hematopoietic stem cells	blood
19	chr11:63742800-63744000	Flanking Active TSS	Stomach Smooth Muscle	stomach
20	chr11:63743000-63743600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr11:63743000-63743600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr11:63743000-63743600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr11:63743000-63743600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr11:63743000-63743600	Transcr. at gene 5' and 3'	Fetal Stomach	stomach
25	chr11:63743000-63744000	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr11:63743000-63744000	Flanking Active TSS	Adipose Nuclei	Adipose
27	chr11:63743000-63744200	Enhancers	Primary B cells from cord blood	blood
28	chr11:63743000-63744200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
29	chr11:63743000-63744400	Flanking Active TSS	Brain Cingulate Gyrus	brain
30	chr11:63743000-63753000	Weak transcription	Aorta	Aorta
31	chr11:63743200-63743600	Flanking Active TSS	H1 Cell Line	embryonic stem cell
32	chr11:63743200-63743600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr11:63743200-63743600	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
34	chr11:63743200-63743600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr11:63743200-63743800	Enhancers	Placenta	Placenta
36	chr11:63743200-63743800	Flanking Active TSS	Osteobl	bone
37	chr11:63743200-63744200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
38	chr11:63743200-63744200	Genic enhancers	Lung	lung
39	chr11:63743200-63744400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr11:63743200-63744400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr11:63743200-63744400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
42	chr11:63743200-63744400	Transcr. at gene 5' and 3'	Dnd41	blood
43	chr11:63743400-63743600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
44	chr11:63743400-63743600	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr11:63743400-63743600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr11:63743400-63743600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr11:63743400-63743600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
48	chr11:63743400-63743600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
49	chr11:63743400-63743600	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr11:63743400-63743600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell

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