Variant report

Variant	rs7123300
Chromosome Location	chr11:73038822-73038823
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:73032576..73035606-chr11:73037625..73040949,4	K562	blood:
2	chr11:73035604..73038970-chr11:73047692..73050704,4	K562	blood:
3	chr11:73035604..73038970-chr11:73047692..73050704,3	K562	blood:
4	chr11:73038301..73040651-chr11:73040971..73045246,4	K562	blood:
5	chr11:73037954..73040570-chr11:73092031..73093536,2	K562	blood:
6	chr11:73037954..73040570-chr11:73092031..73093944,3	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs3933402	1.00[ASN][1000 genomes]
rs57727431	0.91[ASN][1000 genomes]
rs57792931	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs57860998	1.00[ASN][1000 genomes]
rs59376886	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs60038108	0.91[ASN][1000 genomes]
rs60436721	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs61218298	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7102197	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7102423	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7109601	0.86[AFR][1000 genomes]
rs7113420	0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7342152	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7937210	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs947836	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832208	chr11:72876184-73091003	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer 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	54 gene(s)	inside rSNPs	diseases
2	esv1821041	chr11:72937162-73113080	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
3	nsv520665	chr11:72999221-73061856	Flanking Active TSS Bivalent/Poised TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv825993	chr11:73029209-73091929	Active TSS Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 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	chr11:73026600-73039600	Genic enhancers	Fetal Stomach	stomach
2	chr11:73028400-73039000	Enhancers	Rectal Smooth Muscle	rectum
3	chr11:73030800-73039000	Enhancers	Fetal Lung	lung
4	chr11:73030800-73040000	Enhancers	Right Atrium	heart
5	chr11:73031800-73042200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr11:73032600-73039000	Enhancers	Brain Substantia Nigra	brain
7	chr11:73033200-73045400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr11:73033200-73045600	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr11:73033800-73040400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr11:73034200-73039400	Genic enhancers	Fetal Muscle Leg	muscle
11	chr11:73035000-73039800	Enhancers	Colon Smooth Muscle	Colon
12	chr11:73035000-73040800	Weak transcription	Small Intestine	intestine
13	chr11:73035000-73041600	Enhancers	HepG2	liver
14	chr11:73035200-73045800	Weak transcription	Fetal Brain Male	brain
15	chr11:73035400-73039200	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr11:73035400-73039200	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr11:73035400-73039400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr11:73035400-73040000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr11:73035400-73040000	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr11:73035400-73041600	Weak transcription	Brain Germinal Matrix	brain
21	chr11:73035600-73039200	Enhancers	Duodenum Smooth Muscle	Duodenum
22	chr11:73035600-73041800	Weak transcription	Gastric	stomach
23	chr11:73036000-73041600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr11:73036200-73039200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr11:73036400-73040000	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr11:73036400-73040000	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
27	chr11:73036400-73040000	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr11:73036600-73039800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr11:73036600-73040000	Genic enhancers	Fetal Muscle Trunk	muscle
30	chr11:73036600-73041400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr11:73036600-73041600	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr11:73036600-73041800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr11:73036600-73045000	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr11:73036800-73039400	Genic enhancers	NHLF	lung
35	chr11:73036800-73039600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr11:73036800-73040000	Enhancers	GM12878-XiMat	blood
37	chr11:73036800-73043600	Weak transcription	Stomach Mucosa	stomach
38	chr11:73037000-73040000	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr11:73037000-73041600	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr11:73037200-73039200	Enhancers	NH-A	brain
41	chr11:73037200-73039400	Enhancers	Osteobl	bone
42	chr11:73037200-73039800	Enhancers	Spleen	Spleen
43	chr11:73037200-73041600	Weak transcription	Colonic Mucosa	Colon
44	chr11:73037200-73041600	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr11:73037200-73042000	Weak transcription	HSMMtube	muscle
46	chr11:73037400-73040200	Enhancers	NHDF-Ad	bronchial
47	chr11:73037400-73040800	Weak transcription	Brain Hippocampus Middle	brain
48	chr11:73037400-73041800	Enhancers	Stomach Smooth Muscle	stomach
49	chr11:73037400-73046200	Weak transcription	Brain Angular Gyrus	brain
50	chr11:73037600-73040800	Enhancers	Left Ventricle	heart

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