Variant report

Variant	rs73416743
Chromosome Location	chr11:19243891-19243892
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:19185857..19188354-chr11:19242363..19244563,2	K562	blood:
2	chr11:19234188..19237761-chr11:19241094..19244305,3	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs57510083	1.00[AMR][1000 genomes]
rs59444364	1.00[AMR][1000 genomes]
rs59702670	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60728633	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7108302	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73416728	1.00[AFR][1000 genomes];1.00[AMR][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	nsv1040805	chr11:19037871-19892803	Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv540957	chr11:19037871-19892803	Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
3	nsv1041249	chr11:19229878-19248268	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers	TF binding region Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:19229400-19244800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr11:19229600-19245000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr11:19238600-19244600	Weak transcription	Fetal Thymus	thymus
4	chr11:19239000-19261800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:19239600-19259000	Weak transcription	Brain Germinal Matrix	brain
6	chr11:19240000-19249800	Weak transcription	HMEC	breast
7	chr11:19240800-19244800	Enhancers	Fetal Heart	heart
8	chr11:19240800-19246200	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr11:19240800-19253400	Weak transcription	Small Intestine	intestine
10	chr11:19240800-19261600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr11:19241000-19246200	Weak transcription	Fetal Stomach	stomach
12	chr11:19241000-19246800	Weak transcription	Esophagus	oesophagus
13	chr11:19241000-19251000	Weak transcription	Gastric	stomach
14	chr11:19241000-19254200	Weak transcription	Hela-S3	cervix
15	chr11:19241000-19254400	Weak transcription	HSMM	muscle
16	chr11:19241000-19256000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr11:19241000-19261800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr11:19241600-19244800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr11:19241800-19244600	Weak transcription	A549	lung
20	chr11:19241800-19261200	Weak transcription	Primary B cells from cord blood	blood
21	chr11:19242000-19245600	Weak transcription	Primary hematopoietic stem cells	blood
22	chr11:19242000-19246400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr11:19242200-19245000	Weak transcription	K562	blood
24	chr11:19242400-19244000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr11:19242400-19244800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr11:19242600-19244600	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr11:19242600-19244800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr11:19242600-19244800	Weak transcription	Dnd41	blood
29	chr11:19242800-19244000	Enhancers	Right Atrium	heart
30	chr11:19243000-19244200	Enhancers	Right Ventricle	heart
31	chr11:19243000-19244200	Enhancers	Stomach Mucosa	stomach
32	chr11:19243000-19244400	Enhancers	Fetal Intestine Large	intestine
33	chr11:19243000-19244800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr11:19243000-19244800	Weak transcription	Primary monocytes fromperipheralblood	blood
35	chr11:19243000-19244800	Enhancers	Skeletal Muscle Female	skeletal muscle
36	chr11:19243000-19244800	Weak transcription	GM12878-XiMat	blood
37	chr11:19243000-19244800	Weak transcription	Monocytes-CD14+_RO01746	blood
38	chr11:19243000-19245800	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr11:19243000-19246200	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr11:19243000-19254400	Weak transcription	NHDF-Ad	bronchial
41	chr11:19243200-19244600	Weak transcription	HUVEC	blood vessel
42	chr11:19243200-19254200	Weak transcription	Osteobl	bone
43	chr11:19243200-19261600	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr11:19243400-19244000	Weak transcription	Fetal Muscle Trunk	muscle
45	chr11:19243400-19244800	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr11:19243400-19245000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
47	chr11:19243400-19246200	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr11:19243400-19246400	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr11:19243400-19246400	Weak transcription	Psoas Muscle	Psoas
50	chr11:19243400-19246800	Weak transcription	Left Ventricle	heart

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