Variant report

Variant	rs73050530
Chromosome Location	chr5:9337458-9337459
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	chr5:9335941..9338065-chr5:9339507..9341080,2	K562	blood:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs58453511	0.80[AFR][1000 genomes]
rs58779957	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73050525	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73050528	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73050534	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73050541	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73050547	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73050552	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73050560	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73050571	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73052647	0.80[AFR][1000 genomes]
rs73052649	0.94[AFR][1000 genomes]
rs73052657	0.82[AFR][1000 genomes]
rs805141	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv881438	chr5:8728874-9695667	Enhancers Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	21 gene(s)	inside rSNPs	diseases
2	nsv1016937	chr5:8824417-9402871	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
3	nsv537638	chr5:8824417-9402871	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
4	nsv918004	chr5:8824417-9402871	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
5	nsv1015378	chr5:9053542-9617963	Genic enhancers Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
6	nsv537640	chr5:9053542-9617963	Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
7	nsv1020815	chr5:9135207-9425649	Weak transcription Enhancers Strong transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv498044	chr5:9143754-9402870	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	nsv530183	chr5:9146506-9413373	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
10	nsv597071	chr5:9182376-9760599	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
11	nsv1032672	chr5:9182409-9843893	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
12	nsv1035075	chr5:9182584-9843723	Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
13	nsv537641	chr5:9182584-9843723	Flanking Active TSS Strong transcription Weak transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
14	nsv1034637	chr5:9182784-9741743	Genic enhancers Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
15	nsv537642	chr5:9182784-9741743	Enhancers Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent/Poised TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
16	nsv1028656	chr5:9196001-9837040	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
17	nsv1016885	chr5:9218932-9575594	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
18	nsv1026078	chr5:9222811-9591290	Enhancers ZNF genes & repeats Genic enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
19	nsv1022137	chr5:9225121-9745434	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
20	nsv537643	chr5:9225121-9745434	Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
21	nsv1022574	chr5:9314645-9647238	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:9308800-9346600	Weak transcription	Ovary	ovary
2	chr5:9329400-9337800	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr5:9331200-9346000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr5:9331600-9338000	Weak transcription	NH-A	brain
5	chr5:9332000-9339200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr5:9332600-9349000	Weak transcription	Right Ventricle	heart
7	chr5:9332800-9338000	Weak transcription	Brain Cingulate Gyrus	brain
8	chr5:9332800-9338000	Weak transcription	Fetal Kidney	kidney
9	chr5:9332800-9341000	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr5:9332800-9342400	Weak transcription	Pancreas	Pancrea
11	chr5:9332800-9346200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr5:9332800-9346200	Weak transcription	Fetal Intestine Small	intestine
13	chr5:9332800-9346600	Weak transcription	Fetal Muscle Trunk	muscle
14	chr5:9332800-9348000	Weak transcription	Duodenum Mucosa	Duodenum
15	chr5:9332800-9372400	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr5:9333000-9346400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr5:9335200-9338000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr5:9335200-9345000	Weak transcription	Left Ventricle	heart
19	chr5:9335400-9338400	Enhancers	NHDF-Ad	bronchial
20	chr5:9335800-9346200	Weak transcription	Fetal Stomach	stomach
21	chr5:9336000-9337800	Weak transcription	Fetal Muscle Leg	muscle
22	chr5:9336200-9341000	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr5:9336400-9338000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr5:9336600-9337600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr5:9336600-9337800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr5:9336600-9338000	Weak transcription	Osteobl	bone
27	chr5:9336800-9337800	Weak transcription	NHEK	skin
28	chr5:9336800-9338000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr5:9336800-9338000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr5:9336800-9342600	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr5:9336800-9343800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr5:9337000-9337600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr5:9337000-9337600	Weak transcription	Brain Substantia Nigra	brain
34	chr5:9337000-9337800	Enhancers	Fetal Heart	heart
35	chr5:9337000-9338000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr5:9337000-9338400	Enhancers	NHLF	lung
37	chr5:9337000-9342200	Weak transcription	Fetal Lung	lung
38	chr5:9337000-9348600	Weak transcription	Liver	Liver
39	chr5:9337200-9337600	Enhancers	Pancreatic Islets	Pancreatic Islet
40	chr5:9337200-9338200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr5:9337200-9341600	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr5:9337200-9347400	Weak transcription	Fetal Intestine Large	intestine
43	chr5:9337400-9338000	Weak transcription	Right Atrium	heart
44	chr5:9337400-9338200	Enhancers	Brain Anterior Caudate	brain
45	chr5:9337400-9339000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr5:9337400-9339000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr5:9337400-9339000	Enhancers	HMEC	breast
48	chr5:9337400-9339200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr5:9337400-9339400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr5:9337400-9339600	Enhancers	Muscle Satellite Cultured Cells	--

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