Variant report

Variant	rs73449978
Chromosome Location	chr11:46608650-46608651
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:46607666..46610984-chr11:46636142..46639062,4	K562	blood:
2	chr11:46608020..46609597-chr11:46614013..46616682,2	K562	blood:
3	chr11:46607051..46609163-chr11:46612249..46614903,2	MCF-7	breast:
4	chr11:46608389..46610694-chr11:46636142..46638547,2	K562	blood:
5	chr11:46607617..46609574-chr11:46615732..46617530,2	K562	blood:

Variant related genes	Relation type
ENSG00000175224	Chromatin interaction
ENSG00000110497	Chromatin interaction
ENSG00000180423	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs60890473	1.00[AFR][1000 genomes]
rs61493022	1.00[AFR][1000 genomes]
rs73454020	1.00[AFR][1000 genomes]
rs73454028	1.00[AFR][1000 genomes]
rs73454083	1.00[AFR][1000 genomes]
rs73454096	1.00[AFR][1000 genomes]
rs73456128	1.00[AFR][1000 genomes]
rs73466042	1.00[AFR][1000 genomes]
rs73466080	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044225	chr11:46472580-46771102	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv541030	chr11:46472580-46771102	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1046990	chr11:46501436-46669636	Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv541031	chr11:46501436-46669636	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv897321	chr11:46515902-46673344	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46568800-46611000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr11:46568800-46612600	Weak transcription	Brain Germinal Matrix	brain
3	chr11:46583000-46609600	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr11:46583000-46613000	Weak transcription	Fetal Muscle Trunk	muscle
5	chr11:46583200-46611800	Weak transcription	Thymus	Thymus
6	chr11:46583200-46612200	Weak transcription	Stomach Smooth Muscle	stomach
7	chr11:46583200-46613800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr11:46583600-46612400	Weak transcription	Primary B cells from cord blood	blood
9	chr11:46584000-46613600	Weak transcription	Primary hematopoietic stem cells	blood
10	chr11:46586600-46613800	Weak transcription	NH-A	brain
11	chr11:46587800-46613200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr11:46589000-46614000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr11:46589600-46609600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr11:46589600-46613000	Weak transcription	Fetal Muscle Leg	muscle
15	chr11:46589600-46613000	Weak transcription	Fetal Stomach	stomach
16	chr11:46589600-46614000	Weak transcription	Fetal Intestine Large	intestine
17	chr11:46591400-46611000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
18	chr11:46591800-46612200	Weak transcription	Aorta	Aorta
19	chr11:46592600-46612200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr11:46592600-46612200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr11:46592800-46612200	Weak transcription	NHEK	skin
22	chr11:46592800-46612600	Weak transcription	Fetal Lung	lung
23	chr11:46592800-46613600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr11:46593000-46612200	Weak transcription	Brain Cingulate Gyrus	brain
25	chr11:46593000-46612600	Weak transcription	HSMMtube	muscle
26	chr11:46593200-46610600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr11:46593200-46612200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr11:46594000-46612200	Weak transcription	Fetal Kidney	kidney
29	chr11:46594200-46612200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr11:46596800-46609800	Weak transcription	Colon Smooth Muscle	Colon
31	chr11:46596800-46610400	Weak transcription	Primary T helper cells PMA-I stimulated	--
32	chr11:46596800-46610600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr11:46596800-46611600	Weak transcription	Ovary	ovary
34	chr11:46596800-46612200	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr11:46596800-46614000	Weak transcription	Primary B cells from peripheral blood	blood
36	chr11:46597000-46611800	Weak transcription	Psoas Muscle	Psoas
37	chr11:46597000-46613000	Weak transcription	Lung	lung
38	chr11:46598000-46609600	Weak transcription	Left Ventricle	heart
39	chr11:46598000-46612200	Weak transcription	Osteobl	bone
40	chr11:46598200-46612000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr11:46598200-46612800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr11:46598200-46612800	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr11:46598200-46614000	Weak transcription	Primary monocytes fromperipheralblood	blood
44	chr11:46598400-46612800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr11:46599000-46614200	Weak transcription	Primary neutrophils fromperipheralblood	blood
46	chr11:46599600-46609200	Weak transcription	Primary T helper cells fromperipheralblood	blood
47	chr11:46599800-46610600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr11:46600200-46611200	Weak transcription	Fetal Thymus	thymus
49	chr11:46600600-46612600	Weak transcription	Fetal Brain Female	brain
50	chr11:46601400-46612400	Weak transcription	HMEC	breast

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