Variant report

Variant	rs73750951
Chromosome Location	chr5:37197529-37197530
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:37196006..37197813-chr5:37198667..37201494,2	K562	blood:

Extended variants
information (count: 51 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10491420	1.00[AMR][1000 genomes]
rs150619	0.83[AFR][1000 genomes]
rs177811	0.83[AFR][1000 genomes]
rs216373	0.83[AFR][1000 genomes]
rs216375	0.83[AFR][1000 genomes]
rs217775	0.83[AFR][1000 genomes]
rs217779	0.83[AFR][1000 genomes]
rs217783	0.83[AFR][1000 genomes]
rs217784	0.83[AFR][1000 genomes]
rs217785	0.83[AFR][1000 genomes]
rs217791	0.83[AFR][1000 genomes]
rs217792	0.83[AFR][1000 genomes]
rs217796	0.83[AFR][1000 genomes]
rs217798	0.83[AFR][1000 genomes]
rs2548041	0.83[AFR][1000 genomes]
rs53429	0.83[AFR][1000 genomes]
rs56401	0.83[AFR][1000 genomes]
rs56402	0.83[AFR][1000 genomes]
rs56762878	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59505293	1.00[AMR][1000 genomes]
rs61739227	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73750913	1.00[AMR][1000 genomes]
rs73750921	1.00[AMR][1000 genomes]
rs73750931	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73750941	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73750947	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73750949	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73750958	0.89[AFR][1000 genomes]
rs73750959	0.89[AFR][1000 genomes]
rs7706007	0.94[AFR][1000 genomes];1.00[AMR][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	nsv525478	chr5:36804225-37349895	Strong transcription Transcr. at gene 5' and 3' Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	esv1793961	chr5:36866835-37361728	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
3	nsv530225	chr5:36886635-37331912	Weak transcription Strong transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
4	nsv1024051	chr5:36899712-37303001	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv537725	chr5:36899712-37303001	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
6	nsv530226	chr5:36906377-37606367	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
7	esv1802391	chr5:36958598-37242600	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
8	nsv534064	chr5:37054962-37586210	Active TSS Strong transcription Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
9	nsv881511	chr5:37088627-37552852	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
10	nsv597823	chr5:37111565-37430365	Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
11	nsv1026554	chr5:37112133-37734859	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
12	nsv537726	chr5:37112133-37734859	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	45 gene(s)	inside rSNPs	diseases
13	nsv1025988	chr5:37115142-37586211	Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
14	nsv537727	chr5:37115142-37586211	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
15	nsv830265	chr5:37152221-37312233	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
16	nsv530227	chr5:37157106-37571999	Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
17	nsv968904	chr5:37170434-37231344	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
18	nsv880406	chr5:37173930-37345270	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
19	nsv880839	chr5:37173930-37465126	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
20	nsv948741	chr5:37179341-37582164	Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
21	nsv949716	chr5:37179341-37967352	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	58 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:37112200-37198200	Weak transcription	Small Intestine	intestine
2	chr5:37113600-37222200	Weak transcription	Psoas Muscle	Psoas
3	chr5:37147200-37200600	Strong transcription	HSMM	muscle
4	chr5:37161000-37207200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:37166400-37198400	Weak transcription	Stomach Mucosa	stomach
6	chr5:37166400-37213600	Weak transcription	HepG2	liver
7	chr5:37169600-37214600	Weak transcription	Fetal Heart	heart
8	chr5:37170400-37235600	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr5:37171400-37209000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr5:37171600-37208200	Weak transcription	Gastric	stomach
11	chr5:37171600-37249000	Weak transcription	Spleen	Spleen
12	chr5:37172200-37207600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr5:37172200-37225000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr5:37173400-37209200	Weak transcription	NHEK	skin
15	chr5:37174000-37229600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr5:37175400-37209000	Weak transcription	Colonic Mucosa	Colon
17	chr5:37175400-37209000	Weak transcription	Esophagus	oesophagus
18	chr5:37175600-37209000	Weak transcription	Right Ventricle	heart
19	chr5:37178000-37197600	Weak transcription	NHLF	lung
20	chr5:37178200-37203400	Weak transcription	Fetal Brain Male	brain
21	chr5:37178600-37209000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr5:37180800-37202800	Strong transcription	Fetal Muscle Trunk	muscle
23	chr5:37183400-37200200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr5:37183600-37214800	Weak transcription	A549	lung
25	chr5:37184200-37200400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr5:37184200-37200400	Strong transcription	Fetal Muscle Leg	muscle
27	chr5:37184400-37214600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
28	chr5:37185200-37226000	Weak transcription	HMEC	breast
29	chr5:37186400-37220600	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr5:37188000-37213400	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr5:37188400-37202800	Strong transcription	Fetal Stomach	stomach
32	chr5:37189400-37200400	Strong transcription	Fetal Lung	lung
33	chr5:37190000-37197600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr5:37190000-37199200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr5:37190200-37197600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr5:37190800-37221600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr5:37191600-37200400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr5:37191600-37200400	Strong transcription	Placenta	Placenta
39	chr5:37191800-37197600	Weak transcription	Right Atrium	heart
40	chr5:37192000-37212200	Weak transcription	Brain Substantia Nigra	brain
41	chr5:37192200-37197600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
42	chr5:37192200-37200000	Strong transcription	Brain Anterior Caudate	brain
43	chr5:37192600-37198400	Weak transcription	Aorta	Aorta
44	chr5:37193600-37209000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr5:37194000-37199000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr5:37194000-37200200	Strong transcription	Duodenum Smooth Muscle	Duodenum
47	chr5:37194400-37198200	Strong transcription	Rectal Mucosa Donor 29	rectum
48	chr5:37194400-37202000	Strong transcription	Skeletal Muscle Female	skeletal muscle
49	chr5:37194400-37202400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
50	chr5:37194400-37204000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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