Variant report

Variant	rs10765594
Chromosome Location	chr11:92923484-92923485
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:92922677..92925407-chr11:92931500..92933970,2	K562	blood:
2	chr11:92921750..92923614-chr11:92929621..92931321,2	K562	blood:
3	chr11:92923126..92925110-chr11:92926233..92928235,2	K562	blood:
4	chr11:92922649..92925580-chr11:92928547..92930821,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000180773	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1062050	1.00[ASW][hapmap];1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];0.95[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10765588	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10765592	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10830991	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10830994	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10831003	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10831005	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11020179	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11020181	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11020182	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1158347	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12574282	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12576495	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1508607	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2399640	0.83[AMR][1000 genomes]
rs4267030	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61920510	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61920515	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7110187	0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7112173	1.00[CEU][hapmap];0.81[CHB][hapmap];0.85[JPT][hapmap];0.84[AMR][1000 genomes]
rs7114913	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7939448	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7940438	0.88[CEU][hapmap];1.00[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.92[MEX][hapmap];0.83[MKK][hapmap];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7941228	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]

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	nsv1039134	chr11:92790000-93219942	Strong transcription Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv898176	chr11:92877533-92965312	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv898177	chr11:92877533-92971874	Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
4	nsv898178	chr11:92881933-92949447	Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv898179	chr11:92881933-92956873	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv818858	chr11:92898342-92932229	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
7	esv2757465	chr11:92898342-92934137	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
8	esv2759853	chr11:92898342-92934137	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
9	esv2829957	chr11:92915544-92932229	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
10	esv33564	chr11:92918600-92936545	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10765594	SLC36A4	cis	parietal	SCAN

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:92891600-92925400	Weak transcription	Fetal Heart	heart
2	chr11:92891800-92929800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr11:92900600-92929600	Weak transcription	HUVEC	blood vessel
4	chr11:92911200-92930000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr11:92911400-92925400	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr11:92911600-92925400	Weak transcription	Esophagus	oesophagus
7	chr11:92911600-92925400	Weak transcription	Gastric	stomach
8	chr11:92911600-92929800	Weak transcription	Right Ventricle	heart
9	chr11:92911600-92930000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr11:92911800-92929800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr11:92911800-92930200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr11:92912200-92929800	Weak transcription	Rectal Smooth Muscle	rectum
13	chr11:92912200-92929800	Weak transcription	Thymus	Thymus
14	chr11:92912200-92930000	Weak transcription	Fetal Stomach	stomach
15	chr11:92912400-92929800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr11:92912400-92930000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr11:92912600-92924000	Weak transcription	Placenta Amnion	Placenta Amnion
18	chr11:92912600-92926800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
19	chr11:92912600-92928000	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr11:92913200-92929800	Weak transcription	Brain Cingulate Gyrus	brain
21	chr11:92914000-92925200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr11:92914400-92924800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr11:92916200-92924600	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr11:92916200-92929800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr11:92917600-92929800	Weak transcription	NHDF-Ad	bronchial
26	chr11:92917800-92929800	Weak transcription	Primary T helper cells fromperipheralblood	blood
27	chr11:92917800-92929800	Weak transcription	HSMM	muscle
28	chr11:92918000-92924600	Weak transcription	Hela-S3	cervix
29	chr11:92919000-92924800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr11:92919000-92929000	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr11:92919200-92925000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
32	chr11:92919200-92925200	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr11:92920800-92929800	Weak transcription	Brain Hippocampus Middle	brain
34	chr11:92921000-92924600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr11:92921000-92929800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr11:92921000-92929800	Weak transcription	Brain Inferior Temporal Lobe	brain
37	chr11:92921000-92930000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr11:92921200-92928200	Weak transcription	HepG2	liver
39	chr11:92921200-92929800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr11:92921200-92929800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr11:92921200-92929800	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr11:92921200-92929800	Weak transcription	A549	lung
43	chr11:92921200-92930000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr11:92921200-92930000	Weak transcription	Primary T cells from cord blood	blood
45	chr11:92921200-92930200	Weak transcription	Left Ventricle	heart
46	chr11:92921400-92924400	Weak transcription	Monocytes-CD14+_RO01746	blood
47	chr11:92921400-92924800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
48	chr11:92921400-92928000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr11:92921400-92928800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr11:92921400-92930200	Weak transcription	Aorta	Aorta

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