Variant report

Variant	rs754839
Chromosome Location	chr11:45171416-45171417
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:45167645..45169641-chr11:45170241..45173572,4	K562	blood:
2	chr11:45166402..45169959-chr11:45170699..45175813,6	MCF-7	breast:
3	chr11:45169703..45171589-chr11:45212812..45215173,2	K562	blood:

Variant related genes	Relation type
ENSG00000019485	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10444284	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10742739	0.96[CEU][hapmap];0.88[YRI][hapmap];0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10769119	0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10769120	1.00[ASW][hapmap];0.92[CEU][hapmap];0.95[GIH][hapmap];1.00[LWK][hapmap];0.92[MEX][hapmap];0.95[MKK][hapmap];0.93[TSI][hapmap];0.88[YRI][hapmap];0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1077983	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10838413	0.94[AFR][1000 genomes];0.91[EUR][1000 genomes]
rs10838415	0.92[CEU][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10838416	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10838418	1.00[ASW][hapmap];0.92[CEU][hapmap];0.95[GIH][hapmap];1.00[LWK][hapmap];0.92[MEX][hapmap];0.95[MKK][hapmap];0.93[TSI][hapmap];0.88[YRI][hapmap];0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10838423	0.86[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11038299	0.91[EUR][1000 genomes]
rs11038300	0.83[AFR][1000 genomes];0.89[EUR][1000 genomes]
rs11038304	0.92[CEU][hapmap];0.88[YRI][hapmap];0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11038308	0.91[CEU][hapmap];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs11038316	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11038317	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11038319	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11038331	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11038332	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11038333	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11038334	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1116961	0.92[CEU][hapmap];0.88[YRI][hapmap];0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1487718	1.00[ASW][hapmap];0.96[CEU][hapmap];0.87[CHB][hapmap];0.85[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.95[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1487721	1.00[CEU][hapmap];0.89[GIH][hapmap];1.00[MEX][hapmap];0.95[TSI][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1586465	0.94[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1586466	0.92[CEU][hapmap];0.95[GIH][hapmap];0.87[MEX][hapmap];0.93[TSI][hapmap]
rs1960774	0.92[CEU][hapmap];0.88[YRI][hapmap]
rs2278606	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4282971	0.81[AFR][1000 genomes];0.85[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs61585701	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7937556	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv825852	chr11:45141386-45228580	Bivalent/Poised TSS Genic enhancers Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv541025	chr11:45154352-45193352	Weak transcription Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
3	nsv1048493	chr11:45166054-45205695	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:45169400-45181600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr11:45169600-45172200	Enhancers	Lung	lung
3	chr11:45169600-45176400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr11:45169800-45171600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr11:45169800-45171800	Enhancers	Ovary	ovary
6	chr11:45169800-45172200	Enhancers	Pancreas	Pancrea
7	chr11:45169800-45188000	Weak transcription	Primary T cells from cord blood	blood
8	chr11:45170000-45172000	Weak transcription	A549	lung
9	chr11:45170000-45175000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
10	chr11:45170000-45176600	Weak transcription	Esophagus	oesophagus
11	chr11:45170000-45177800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr11:45170000-45178800	Weak transcription	Fetal Kidney	kidney
13	chr11:45170000-45179000	Weak transcription	Primary hematopoietic stem cells	blood
14	chr11:45170000-45179200	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr11:45170000-45179400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr11:45170000-45190000	Weak transcription	Primary B cells from cord blood	blood
17	chr11:45170200-45171600	Weak transcription	Gastric	stomach
18	chr11:45170200-45171800	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr11:45170200-45171800	Weak transcription	Stomach Mucosa	stomach
20	chr11:45170200-45172000	Weak transcription	Fetal Muscle Trunk	muscle
21	chr11:45170200-45172000	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr11:45170200-45175200	Weak transcription	Aorta	Aorta
23	chr11:45170200-45176200	Weak transcription	Fetal Heart	heart
24	chr11:45170200-45176200	Weak transcription	Rectal Smooth Muscle	rectum
25	chr11:45170200-45176200	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr11:45170200-45176400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr11:45170200-45178400	Weak transcription	Fetal Thymus	thymus
28	chr11:45170200-45178800	Weak transcription	Brain Substantia Nigra	brain
29	chr11:45170200-45179200	Weak transcription	Colonic Mucosa	Colon
30	chr11:45170200-45179400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr11:45170200-45179400	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr11:45170400-45171600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr11:45170400-45175000	Weak transcription	Right Atrium	heart
34	chr11:45170400-45176000	Weak transcription	Fetal Lung	lung
35	chr11:45170400-45176000	Weak transcription	Left Ventricle	heart
36	chr11:45170400-45176200	Weak transcription	Brain Anterior Caudate	brain
37	chr11:45170400-45176200	Weak transcription	Brain Hippocampus Middle	brain
38	chr11:45170400-45176400	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr11:45170400-45176400	Weak transcription	Fetal Intestine Large	intestine
40	chr11:45170400-45178800	Weak transcription	Brain Angular Gyrus	brain
41	chr11:45170400-45179000	Weak transcription	Brain Germinal Matrix	brain
42	chr11:45170400-45179600	Weak transcription	Fetal Brain Female	brain
43	chr11:45170400-45185200	Weak transcription	Primary B cells from peripheral blood	blood
44	chr11:45170600-45171800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr11:45170600-45172600	Weak transcription	Spleen	Spleen
46	chr11:45170600-45173000	Weak transcription	Fetal Muscle Leg	muscle
47	chr11:45170600-45179000	Weak transcription	Brain Cingulate Gyrus	brain
48	chr11:45170600-45179400	Weak transcription	Psoas Muscle	Psoas
49	chr11:45170800-45171800	Weak transcription	Right Ventricle	heart
50	chr11:45170800-45179600	Weak transcription	Fetal Brain Male	brain

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