Variant report

Variant	rs4944078
Chromosome Location	chr11:75022695-75022696
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:75013016..75016949-chr11:75020139..75024522,5	K562	blood:

Variant related genes	Relation type
ENSG00000137486	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11236370	1.00[ASN][1000 genomes]
rs11823994	1.00[ASN][1000 genomes]
rs11824884	1.00[ASN][1000 genomes]
rs12365307	1.00[ASN][1000 genomes]
rs17310905	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs34281218	1.00[ASN][1000 genomes]
rs4945006	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56335064	1.00[ASN][1000 genomes]
rs61499806	1.00[ASN][1000 genomes]
rs7131128	1.00[ASN][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	nsv1049887	chr11:74937977-75040438	Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	nsv1036292	chr11:74937977-75059496	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	65 gene(s)	inside rSNPs	diseases
3	nsv1041640	chr11:74945824-75174688	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	94 gene(s)	inside rSNPs	diseases
4	nsv832211	chr11:74945839-75106125	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	66 gene(s)	inside rSNPs	diseases
5	nsv522447	chr11:74982939-75068767	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	57 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:74998800-75041400	Weak transcription	Brain Germinal Matrix	brain
2	chr11:75000200-75037600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
3	chr11:75000400-75033000	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr11:75000800-75023000	Weak transcription	Ovary	ovary
5	chr11:75005200-75026000	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr11:75005200-75026400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr11:75005200-75033000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr11:75009600-75022800	Weak transcription	A549	lung
9	chr11:75010600-75025000	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr11:75012200-75026600	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr11:75012600-75024800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
12	chr11:75013600-75022800	Weak transcription	Sigmoid Colon	Sigmoid Colon
13	chr11:75013800-75025200	Weak transcription	Liver	Liver
14	chr11:75015000-75025000	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr11:75017000-75023400	Weak transcription	K562	blood
16	chr11:75017000-75025600	Genic enhancers	Fetal Stomach	stomach
17	chr11:75017000-75028400	Weak transcription	Fetal Brain Male	brain
18	chr11:75017600-75024800	Strong transcription	Primary T cells from cord blood	blood
19	chr11:75018200-75034800	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr11:75018400-75024800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr11:75018800-75022800	Weak transcription	HUVEC	blood vessel
22	chr11:75019000-75026400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr11:75020200-75023000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr11:75020200-75023400	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr11:75020200-75023600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr11:75020200-75023600	Genic enhancers	Lung	lung
27	chr11:75020200-75023600	Genic enhancers	Spleen	Spleen
28	chr11:75020200-75023800	Genic enhancers	Gastric	stomach
29	chr11:75020200-75024400	Weak transcription	Muscle Satellite Cultured Cells	--
30	chr11:75020400-75024200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr11:75020800-75022800	Enhancers	Skeletal Muscle Female	skeletal muscle
32	chr11:75021000-75025600	Weak transcription	Thymus	Thymus
33	chr11:75021000-75037600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr11:75021200-75022800	Enhancers	HSMM	muscle
35	chr11:75021200-75027000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr11:75021400-75023400	Enhancers	HSMMtube	muscle
37	chr11:75021600-75022800	Enhancers	Placenta	Placenta
38	chr11:75021600-75023200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr11:75021600-75025400	Genic enhancers	Fetal Intestine Small	intestine
40	chr11:75021600-75025600	Enhancers	Fetal Heart	heart
41	chr11:75021600-75026600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr11:75021600-75026600	Enhancers	Stomach Mucosa	stomach
43	chr11:75021800-75023000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr11:75021800-75023000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr11:75021800-75023000	Weak transcription	Pancreas	Pancrea
46	chr11:75021800-75025600	Enhancers	Colon Smooth Muscle	Colon
47	chr11:75021800-75026600	Weak transcription	Primary hematopoietic stem cells	blood
48	chr11:75022000-75022800	Weak transcription	Psoas Muscle	Psoas
49	chr11:75022000-75023000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr11:75022000-75026200	Weak transcription	Primary neutrophils fromperipheralblood	blood

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