Variant report

Variant	rs546323
Chromosome Location	chr11:64507799-64507800
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:64506780-64508432	HL-60	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr11:64506030..64508610-chr11:64510560..64513523,3	MCF-7	breast:
2	chr11:64488142..64490863-chr11:64506214..64508875,2	MCF-7	breast:
3	chr11:64507790..64516181-chr11:64524582..64537783,30	K562	blood:
4	chr11:64502299..64505841-chr11:64506050..64510563,6	K562	blood:
5	chr11:64480253..64481992-chr11:64507131..64509338,2	K562	blood:
6	chr11:64503331..64505631-chr11:64505655..64508336,3	K562	blood:
7	chr11:64489351..64492621-chr11:64507509..64512935,5	K562	blood:
8	chr11:64506827..64509728-chr11:64644773..64647136,2	K562	blood:

No data

Variant related genes	Relation type
RASGRP2	TF binding region
ENSG00000110047	Chromatin interaction
ENSG00000068976	Chromatin interaction
ENSG00000068831	Chromatin interaction
ENSG00000168066	Chromatin interaction
ENSG00000110076	Chromatin interaction

Extended variants
information (count: 79 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs10466694	1.00[EUR][1000 genomes]
rs11231806	1.00[EUR][1000 genomes]
rs11231811	1.00[EUR][1000 genomes]
rs11231812	1.00[EUR][1000 genomes]
rs11231865	1.00[EUR][1000 genomes]
rs11231866	1.00[EUR][1000 genomes]
rs11821081	1.00[EUR][1000 genomes]
rs1207182	0.86[AFR][1000 genomes]
rs1212539	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1212851	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12273948	1.00[EUR][1000 genomes]
rs12281931	1.00[EUR][1000 genomes]
rs12293573	1.00[EUR][1000 genomes]
rs17146100	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17146110	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1787671	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2022049	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2518908	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2666561	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2666562	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2904961	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2959651	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3016758	1.00[EUR][1000 genomes]
rs3016759	1.00[AMR][1000 genomes]
rs41323046	1.00[EUR][1000 genomes]
rs475704	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs512926	1.00[EUR][1000 genomes]
rs516041	0.93[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs534052	1.00[AMR][1000 genomes]
rs534073	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs535606	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs541305	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs545167	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs545819	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs547280	1.00[YRI][hapmap];0.81[AFR][1000 genomes]
rs550930	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs553618	0.96[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs559095	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs559977	0.93[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56186064	1.00[EUR][1000 genomes]
rs565688	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs573545	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs579175	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58571986	1.00[EUR][1000 genomes]
rs6591863	1.00[EUR][1000 genomes]
rs7110778	1.00[EUR][1000 genomes]
rs7113097	1.00[EUR][1000 genomes]
rs7127435	1.00[EUR][1000 genomes]
rs73492134	1.00[AMR][1000 genomes]
rs73492139	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73492140	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73492144	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73494206	1.00[EUR][1000 genomes]
rs7948607	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7948832	1.00[EUR][1000 genomes]
rs9326433	1.00[EUR][1000 genomes]
rs9326434	1.00[EUR][1000 genomes]
rs9666331	1.00[EUR][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	nsv468596	chr11:64334114-64527080	Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
2	nsv555195	chr11:64334114-64527080	Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
3	nsv897694	chr11:64334114-64584959	Weak transcription Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
4	nsv818842	chr11:64345448-64546391	Bivalent Enhancer Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Active TSS 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	75 gene(s)	inside rSNPs	diseases
5	nsv528506	chr11:64345448-64701030	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1075 gene(s)	inside rSNPs	diseases
6	nsv555196	chr11:64357072-64559898	Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
7	nsv897695	chr11:64357072-64701030	Weak transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1075 gene(s)	inside rSNPs	diseases
8	nsv1051350	chr11:64372906-64533632	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
9	nsv555198	chr11:64373899-64573589	Weak transcription Transcr. at gene 5' and 3' Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
10	esv1804443	chr11:64386453-64534785	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
11	nsv897697	chr11:64447420-64584959	Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
12	nsv897698	chr11:64447420-64621573	Active TSS Bivalent Enhancer Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription 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	82 gene(s)	inside rSNPs	diseases
13	nsv897699	chr11:64447420-64638041	Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
14	nsv897700	chr11:64447420-64701030	Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1071 gene(s)	inside rSNPs	diseases
15	nsv555202	chr11:64477050-64573589	Strong transcription Bivalent/Poised TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
16	nsv468597	chr11:64477050-64584959	Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
17	nsv468598	chr11:64477050-64584959	Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
18	nsv555203	chr11:64477050-64584959	Strong transcription Genic enhancers Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking 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	77 gene(s)	inside rSNPs	diseases
19	nsv1049744	chr11:64486615-64630149	Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
20	nsv832189	chr11:64487183-64620199	Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
21	nsv897701	chr11:64501991-64520569	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs546323	SF1	cis	multi-tissue	Pritchard

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64491400-64509400	Weak transcription	Right Atrium	heart
2	chr11:64491400-64509600	Weak transcription	Brain Angular Gyrus	brain
3	chr11:64491400-64509600	Weak transcription	Pancreas	Pancrea
4	chr11:64491600-64509200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr11:64491600-64509400	Weak transcription	Brain Hippocampus Middle	brain
6	chr11:64491800-64509400	Weak transcription	Brain Substantia Nigra	brain
7	chr11:64491800-64509800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr11:64492000-64509600	Weak transcription	Brain Cingulate Gyrus	brain
9	chr11:64493400-64508800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr11:64493600-64507800	Strong transcription	Primary neutrophils fromperipheralblood	blood
11	chr11:64493600-64508000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr11:64494000-64508400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
13	chr11:64494000-64508600	Strong transcription	Primary monocytes fromperipheralblood	blood
14	chr11:64494000-64508600	Strong transcription	Primary T cells from cord blood	blood
15	chr11:64494000-64508600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr11:64498000-64508400	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr11:64498200-64509000	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr11:64499800-64509200	Weak transcription	Brain Anterior Caudate	brain
19	chr11:64500600-64508600	Strong transcription	Stomach Smooth Muscle	stomach
20	chr11:64503000-64509200	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr11:64503200-64509400	Weak transcription	Duodenum Smooth Muscle	Duodenum
22	chr11:64503200-64509400	Weak transcription	Left Ventricle	heart
23	chr11:64504200-64508600	Strong transcription	Primary B cells from peripheral blood	blood
24	chr11:64504200-64508600	Weak transcription	Liver	Liver
25	chr11:64504200-64509200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr11:64504400-64507800	Strong transcription	Primary T helper cells PMA-I stimulated	--
27	chr11:64504400-64508000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr11:64504400-64508200	Strong transcription	Primary T helper naive cells from peripheral blood	blood
29	chr11:64504400-64509000	Strong transcription	Spleen	Spleen
30	chr11:64504600-64508400	Weak transcription	Skeletal Muscle Male	skeletal muscle
31	chr11:64504600-64509200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr11:64504600-64509400	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr11:64504800-64508800	Weak transcription	Adipose Nuclei	Adipose
34	chr11:64504800-64509600	Weak transcription	Dnd41	blood
35	chr11:64504800-64510000	Weak transcription	Aorta	Aorta
36	chr11:64505000-64508000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr11:64505000-64509200	Weak transcription	Gastric	stomach
38	chr11:64505000-64509400	Weak transcription	Rectal Smooth Muscle	rectum
39	chr11:64505200-64509000	Weak transcription	Colon Smooth Muscle	Colon
40	chr11:64505600-64508400	Weak transcription	Placenta	Placenta
41	chr11:64506000-64509000	Strong transcription	Fetal Thymus	thymus
42	chr11:64506400-64509400	Strong transcription	Thymus	Thymus
43	chr11:64506600-64508400	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr11:64506600-64509000	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
45	chr11:64506600-64509600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr11:64506800-64507800	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
47	chr11:64506800-64507800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
48	chr11:64506800-64508600	Strong transcription	Primary B cells from cord blood	blood
49	chr11:64506800-64509000	Enhancers	H1 Cell Line	embryonic stem cell
50	chr11:64506800-64509200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell

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